Heres a batch of fresh news and announcements from across Imperial.

From a study showing a genetic link for obesity, to a new centre for wildfire research, here is some quick-read news from across the College.

An international team has discovered a new genetic link for a type of obesity which affects pathways in the brain as well as in the pancreas.

Caused by mutations in a single gene called MRAP2, the condition is associated with excessive hunger and linked to early onset diabetes and high blood pressure.

Professor Philippe Froguel, who worked with French researchers in Lille on the discovery, hopes the findings could lead to new treatments targeting the MRAP2 protein. He said: Discoveries such as these could help to tackle genetic forms of obesity. Finding the genetic basis is the key to targeting excessive hunger.

Froguels team previously identified the MC4R gene and a treatment to activate the protein and affect appetite. The treatment is expected to become available from next year.

Read more in Nature Medicine: Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

When it comes to asthma, neutrophilsmay not be the bad guys people thought they were.

Severe asthma is caused, in part, by inflammation of the branching airways inside the lungs which makes it hard to breathe. White blood cells called neutrophils are a major component of this inflammation, and researchers previously thought these cells were driving much of the lung damage and ensuing symptoms.

But new research fromDr Robert SnelgroveandDr Dhiren Patel, from Imperials National Heart and Lung Institute,hasfound that neutrophils are not all bad in the context of asthma. They show targeting neutrophils can also have a negative effect, as they have a regulatory role over other inflammatory cells in the lung.

Read the full paper in Science Immunology: Neutrophils restrain allergic airway inflammation by limiting ILC2 function and monocytedendritic cell antigen presentation

Professor Ricardo Martinez-Botas, from the Department of Mechanical Engineering, has received an Honorary Doctorate in Engineering from Universiti Teknologi Malaysia (UTM).

Professor Martinez-Botas is the co-Director of UTMs Centre for Low Carbon Transport (LoCARtic) and has supervised more than ten PhD students from UTM and other institutions in Malaysia.

In 2018, the Prime Minister of Malaysia Tun Dr Mahathir bin Mohamad visited Imperial and toured Professor Martinez-Botass Turbo Group lab, learning about the latest developments in low-carbon transport and electric motors, as well as major collaborations with UTM.

Matoha Instrumentation, founded by Imperial scientists and entrepreneurs, has won an Institute of Physics Business Start-Up Award.

The company make technologies that quickly and cheaply analyse the chemical composition of materials that visually look the same, allowing them to be more easily sorted for recycling. They have made two platforms: one that identifies and analyses plastics, and one that works with fabrics.

The technology uses a combination of near-infrared spectroscopy and machine-learning algorithms to continuously improve performance. The small and low-cost nature of the technology means it can also be used where larger, automatic detectors are not feasible, instead providing a better pair of eyes to manual sorters. The team behind Matoha Instrumentation previously won the Faculty of Natural Sciences Make-A-Difference competition.

Read more on the Institute of Physics website

The Equality, Diversity and Inclusion Centre marked the end of Black History Month and six years of the IMPACT talent development programme for Black, Asian and Minority Ethnic (BAME) staff with a special reunion event. Delegates and mentors, old and new, gathered at the event to reflect on and celebrate their time on the programme.

Gabriella Gordon-Kerr, Equality, Diversity and Inclusion Coordinator, has been at the helm of the IMPACT programme since it started in 2014. She said: It was great to gather our delegates and mentors in one room, and to reflect on the success of the IMPACT programme. At our reunion event, we looked at the history of the programme and heard stories of progression from delegates.

We asked delegates to sign a guest book on the day, and one of the quotes that resonated with us said: IMPACT has left an ever-lasting impact on my life in more ways than one. Heres hoping to another great six years.

BBC Security Correspondent Gordon Corera presented the 10th Vincent Briscoe Lecture of Imperials Institute for Security Science and Technology this week.

He spoke of the intertwining history of technology and espionage over the last century, from the most classified heart of the national security state. From Bletchley Park through the Cold War to Google and Huawei he explored how data, encryption and computers transformed what we think of as secret and what this means for us.

This marks the tenth anniversary of the lecture, which was named in honour of Professor Vincent Briscoe, a distinguished inorganic chemist at Imperials Department of Chemistry.

Dr Jackie Bell has won the Rising Star Award from WISE a campaign that promotes the work of women in STEM.

The annual awards recognise inspiring individuals who actively promote these subjects to girls and women. Dedicated to raising aspirations and changing peoples beliefs that science isnt for them, Dr Bell has given talks to schools and community groups across the UK, and helps Imperial and other institutions develop inclusive community outreach approaches.

Jackie is currently developing the Department of Computings outreach strategy, committing to at least 50 per cent female participation for all activities. Jackie said: Im a strong supporter of the WISE Campaign and all that is being done to achieve gender balance. To have my work recognised like this is an honour and winning the Rising Star award has given me a greater platform to bring about positive change.

Imperial held the launch of a new research centre studying the science and impact of wildfires. Speakers from the Leverhulme Centre for Wildfires, Environment and Society were joined by Marc Castellnou, a Strategic Fire Analyst working with Bombers de Catalunya (Firefighters of Catalonia), who warned that warm and wet winters, followed by extremely hot summers are a perfect storm for the most dangerous wildfires.

Historically common in Mediterranean countries, evidence shows these conditions have arrived in the United Kingdom, Ireland and Scandinavia as a result of climate change. The Centres new Director, Imperials Professor Colin Prentice, said, We need a better understanding of how and why wildfires occur, knowledge to make seasonal forecasts, and an urgent need to understand how to live with wildfires.

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Gene targets for obesity and wildfire research: News from the College | Imperial News - Imperial College London

LEXINGTON, Ky. If youve just never been able to wrap your mind around how people eat vegetables like broccoli or brussels sprouts and actually enjoy the taste, it turns out you may be experiencing an entirely different taste when you bite into a forkful of greens. According to a new set of preliminary research, some people carry a specific gene that makes certain foods, including most heart healthy vegetables, taste especially bitter.

Those carrying this taste gene are much more likely to have a harder time incorporating vegetables into their daily diets.

Your genetics affect the way you taste, and taste is an important factor in food choice, says study author Jennifer L. Smith, a postdoctoral fellow in cardiovascular science at the University of Kentucky School of Medicine in Lexington, in a release. You have to consider how things taste if you really want your patient to follow nutrition guidelines.

Every single human is born with two copies of a taste gene called TAS2R38.However, some people inherit two versions of the gene called AVI,while others inherit just one copy of AVI and another variation of the gene called PAV.People with two AVI genes arent particularly sensitive to bitter tastes from certain compounds, but those with one PAV variant experience mild bitter sensations from certain foods.

Then, there is another group of people who inherit two PAV variant genes. This group, often referred to as super tasters, find certain foods extremely bitter.

Were talking a ruin-your-day level of bitter when they tasted the test compound. These people are likely to find broccoli, brussels sprouts and cabbage unpleasantly bitter; and they may also react negatively to dark chocolate, coffee and sometimes beer, Smith explains.

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It is estimated that roughly 50% of humans inherit both a PAV and AVI gene variant, while 25% are born with two PAV variants, and another 25% inherit two AVI variants.

Researchers went through food-questionnaire responses from 175 participants, and found that people with two copies of the PAV form of the gene (super tasters) were over two and a half times more likely to be in the bottom half of participants regarding number of vegetables consumed. The average age of the participant group was 52, and over 70% were females.

Interestingly, bitter sensitivity did not seem to influence the amount of salt, sugar, or fat that participants were eating.

We thought they might take in more sugar and salt as flavor enhancers to offset the bitter taste of other foods, but that wasnt the case. Down the road we hope we can use genetic information to figure out which vegetables people may be better able to accept and to find out which spices appeal to super tasters so we can make it easier for them to eat more vegetables, Smith concludes.

The study is set to be presented at the American Heart Associations Scientific Sessions 2019.

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Hate The Taste Of Vegetables? Your Genes May Be To Blame, Study Finds - Study Finds

Getting an earful from mum everyday for not eating green vegetables is a routine. Because most of us dont like eating vegetables and we keep thinking of excuses to escape the wrath of moms over veggies, of course.

As per the experts from the University of Kentucky School of Medicine, every person inherits two copies of a taste gene called TAS2R38 which encodes a protein that allows us to taste bitterness. Those who inherit two copies of a variant of this gene called AVI are not sensitive to bitter tastes while those who inherit one copy of AVI and another called PAV perceive bitter tastes.

So that [bitter] vegetable is disliked, and because people generalize, soon all vegetables are disliked, Duffy said. If you ask people, Do you like vegetables? They dont usually say, Oh yeah, I dont like this, but I like these others. People tend to either like vegetables or not, she added.

So, the next time your mother scolds you for not eating greenvegetables, you could always blame it on genes or on your forefathers! * wink *

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Hate Karela, Palak & Tinda? Your Genes May Be The Reason, Says Study - Storypick

Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med. 2004 Nov 4;351(19):1972-7.

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Clark LN, Kartsaklis LA, Wolf Gilbert R, Dorado B, Ross BM, Kisselev S, Verbitsky M, Mejia-Santana H, Cote LJ, Andrews H, Vonsattel JP, Fahn S, Mayeux R, Honig LS, Marder K. Association of glucocerebrosidase mutations with dementia with lewy bodies. Arch Neurol. 2009 May;66(5):578-83. doi: 10.1001/archneurol.2009.54.

Clark LN, Ross BM, Wang Y, Mejia-Santana H, Harris J, Louis ED, Cote LJ, Andrews H, Fahn S, Waters C, Ford B, Frucht S, Ottman R, Marder K. Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease. Neurology. 2007 Sep 18;69(12):1270-7.

Cox TM. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis. 2001;24 Suppl 2:106-21; discussion 87-8. Review.

Germain DP. Gaucher's disease: a paradigm for interventional genetics. Clin Genet. 2004 Feb;65(2):77-86. Review.

Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology. 2006 Sep 12;67(5):908-10. Epub 2006 Jun 21.

Jmoudiak M, Futerman AH. Gaucher disease: pathological mechanisms and modern management. Br J Haematol. 2005 Apr;129(2):178-88. Review.

Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, Schellenberg GD, Sidransky E, Bird TD, Leverenz JB, Tsuang D, Zabetian CP. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol. 2008 Mar;65(3):379-82. doi: 10.1001/archneurol.2007.68.

Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, Chinnery PF, Morris CM, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn PP, Van Broeckhoven C, Mann DM, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin UM, Bras J, Hardy J, Clark L, Marder K, Honig LS, Berg D, Maetzler W, Brockmann K, Gasser T, Novellino F, Quattrone A, Annesi G, De Marco EV, Rogaeva E, Masellis M, Black SE, Bilbao JM, Foroud T, Ghetti B, Nichols WC, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson BI, Trojanowski JQ, Hurtig HI, Tayebi N, Landazabal C, Knight MA, Keller M, Singleton AB, Wolfsberg TG, Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies. JAMA Neurol. 2013 Jun;70(6):727-35. doi: 10.1001/jamaneurol.2013.1925.

Orvisky E, Park JK, Parker A, Walker JM, Martin BM, Stubblefield BK, Uyama E, Tayebi N, Sidransky E. The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. Hum Mutat. 2002 Apr;19(4):458-9.

Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, Sidransky E, Schiffmann R, Futerman AH. Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis. 2005 Feb;18(1):83-8.

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Drr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281.

Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab. 2004 Sep-Oct;83(1-2):6-15. Review.

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GBA gene - Genetics Home Reference - NIH

Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. One mutation has been found in everyone diagnosed with classic, or type 1, Timothy syndrome. This mutation changes one protein building block (amino acid) used to build the channel. Specifically, the mutation replaces the amino acid glycine with the amino acid arginine at position 406 (written as Gly406Arg or G406R).

The mutation that causes classic Timothy syndrome occurs in exon 8A, and is present only in the version of the CaV1.2 channel made with this segment. Therefore, in the brain and heart, the mutation affects about 20 percent of all CaV1.2 channels.

Two mutations in the CACNA1C gene cause a more severe, atypical form of Timothy syndrome called type 2. These mutations occur in the version of the CaV1.2 channel made with exon 8. One of these genetic changes, G406R, is the same mutation that causes classic Timothy syndrome when it occurs in exon 8A. The other mutation replaces the amino acid glycine with the amino acid serine at position 402 (written as Gly402Ser or G402S).

Because the mutations responsible for atypical Timothy syndrome occur in exon 8, they are present only in versions of the CaV1.2 gene that contain this segment. In the brain and heart, this version accounts for about 80 percent of all CaV1.2 channels. Researchers believe that the more severe features of atypical Timothy syndrome result from the higher percentage of mutated channels in heart and brain cells.

Mutations in the CACNA1C gene change the structure of CaV1.2 channels throughout the body. The altered channels stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause arrhythmia. Researchers are working to determine how an increase in calcium ion transport in other tissues, including cells in the brain, underlies the other features of Timothy syndrome.

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CACNA1C gene - Genetics Home Reference - NIH

June 28, 2017 Disruption of a region in chromosome 6 or epigenetic modifications of the DNA block Sestrin1 expression and these contribute to the development of follicular lymphoma. Credit: Elisa Oricchio/Natalya Katanayeva/EPFL

Follicular lymphoma is an incurable cancer that affects over 200,000 people worldwide every year. A form of non-Hodgkin lymphoma, follicular lymphoma develops when the body starts making abnormal B-cells, which are white blood cells that in normal conditions fight infections. This cancer is associated with several alterations of the cell's DNA, but it has been unclear which gene or genes are involved in its development. EPFL scientists have now analyzed the genomes of more than 200 patients with follicular lymphoma, and they discover that a gene, Sestrin1, is frequently missing or malfunctioning in FL patients. The discovery opens to new treatment options and it is now published in Science Translational Medicine.

One of the common features of follicular lymphoma is a genetic abnormality between two chromosomes (14 and 18). In an event known as "chromosomal translocation" the two chromosomes "swap" certain parts with each other. This triggers the activation of a gene that protects cells from dying, making cells virtually immortalthe hallmark of a tumor.

Moreover, approximately 30% of follicular lymphoma patients lose also a portion of chromosome 6, affecting multiple genes involved in suppressing the emergence of a tumor. These patients typically have poor prognosis. Another 20 % of patients have alterations causing chromosomal disorganization and the consequent malfunctioning of several genes and proteins. The bottom line is that for both group of patients it is very difficult to pinpoint which of all the affected genes are actually causing the disease.

The lab of Elisa Oricchio at EPFL, with colleagues from the US and Canada, analyzed the genomes of over 200 follicular lymphoma patients. Their analyses revealed that a specific gene, Sestrin1, can be harmed by both loss of chromosome 6 and silenced in patients.

Sestrin1 helps the cell defending itself against DNA damagefor example after exposure to radiationand oxidative stress. In fact, Sestrin1 is part of the cell's anti-tumor mechanism that stops potentially cancerous cells from growing.

Disruption of a region in chromosome 6 or epigenetic modifications of the DNA block Sestrin1 expression and these contribute to the development of Follicular Lymphoma.

Beyond identifying the Sestrin1 gene as frequently altered in FL patients, the scientists demonstrated that Sestrin1 is able to suppress tumors in vivo. They showed that Sestrin1 exerts its anti-tumor effects by blocking the activity of a protein complex called mTORC1, which is well known for controlling protein synthesis as well as acting as a sensor for nutrient or energy changes in the cell.

Finally, the identification of loss of Sestrin1 as a key event behind the development of follicular lymphoma is particular important because it helps identifying patients that will benefit from new therapies. Indeed, this study shows that the therapeutic efficacy of a new drug that is currently in clinical trial depends on Sestrin1. Importantly, this dependency can be extended beyond follicular lymphoma to other tumor types.

Explore further: Combination therapy may help patients with follicular lymphoma

More information: E. Oricchio el al., "Genetic and epigenetic inactivation of SESTRIN1 controls mTORC1 and response to EZH2 inhibition in follicular lymphoma," Science Translational Medicine (2017). stm.sciencemag.org/lookup/doi/10.1126/scitranslmed.aak9969

A new study in The Journal of Experimental Medicine reveals that a high-risk group of patients with follicular lymphoma could benefit from a novel drug combination.

Mutations present in a blood cancer known as follicular lymphoma have revealed new molecular targets for potential treatments, according to researchers at Queen Mary University of London (QMUL) together with collaborators ...

Immune cellular therapy is a promising new area of cancer treatment. Anti-cancer therapeutics, such as chimeric antigen receptor (CAR) modified T cells, can be engineered to target tumor-associated antigens to attack and ...

Follicular lymphoma (FL), the second most common form of non-Hodgkin lymphoma, is a largely incurable disease of B cells, yet in many cases, because of its indolent nature, survival can extend to well beyond 10 years following ...

The goal for many cancer patients is to reach the five-year, disease-free mark, but new research from UR Medicine's Wilmot Cancer Institute suggests that two years might be a more practical survival goal for people with follicular ...

(HealthDay)An initial watch-and-wait strategy does not have a detrimental effect on the freedom from treatment failure (FFTF) or overall survival rate in selected patients with low-tumor burden follicular lymphoma compared ...

Follicular lymphoma is an incurable cancer that affects over 200,000 people worldwide every year. A form of non-Hodgkin lymphoma, follicular lymphoma develops when the body starts making abnormal B-cells, which are white ...

Adding an investigational antibody to the chemotherapy rituximab appears to restore its cancer-killing properties in certain leukemia patients with a natural resistance to the drug, according to a small, proof-of-concept ...

Leukemia researchers led by Dr. John Dick have traced the origins of relapse in acute myeloid leukemia (AML) to rare therapy-resistant leukemia stem cells that are already present at diagnosis and before chemotherapy begins.

Cancerous tumors are formidable enemies, recruiting blood vessels to aid their voracious growth, damaging nearby tissues, and deploying numerous strategies to evade the body's defense systems. But even more malicious are ...

A study by the University of Aberdeen has found that a higher concentration of the molecules that breakdown omega-3 fatty acids is associated with a higher chance of survival from bowel cancer.

Scientists from the Biotech Research & Innovation Centre (BRIC) at the University of Copenhagen have developed a groundbreaking method to reveal the structure of tissues and tumours with unprecedented detail, by completely ...

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The gene behind follicular lymphoma - Medical Xpress

The common cold is a regular nuisance for most of us. The average healthy adult has two to three colds per year. Cold viruses usually cause mild symptomssuch as a sore throat, runny nose, and coughand are quickly removed by the immune system. But for some people, particularly children and older adults with underlying health problems, cold viruses can lead to more severe health problems.

Human rhinovirus (HRV) is the main cause of the common cold, making up over half of the cases. Despite the prevalence of colds, the immune response to these viruses isnt well understood. A better understanding could help researchers develop effective therapies against HRV and other cold viruses.

A case study by researchers at NIHs National Institute of Allergy and Infectious Diseases (NIAID) revealed an important mechanism by which the immune system responds to HRV. The case involved a child who, several weeks after birth, started getting life-threatening respiratory infections. Her doctors at National Jewish Health and NIH suspected she might have a genetic abnormality affecting her immune system. Led by NIAIDs Dr. Helen Su, they performed a genetic analysis on the child and her immediate family. The study appeared online on June 12, 2017, in the Journal of Experimental Medicine.

The analysis identified a rare mutation in the IFIH1 gene, which codes for a protein called MDA5. Animal studies had found that MDA5 plays an important role in detecting viruses and initiating an immune response. The researchers showed that the childs mutant MDA5 didnt recognize HRV, and cells from her nasal passages werent able to suppress the virus.

The team confirmed that human MDA5 normally recognizes HRV. However, the protein isnt needed to recognize and control infections by another common cold virus, respiratory syncytial virus (RSV), or flu virus. The researchers speculate that lung damage, a weakened immune system due to HRV infections, or other unknown factors may have contributed to the childs increased infections with these other viruses.

To explore whether other people might be affected by similar mutations, the researchers analyzed a database of over 60,000 volunteers genomes. They found multiple rare variations in IFIH1 that could lead to less effective MDA5. Interestingly, most people with these variations lived a normal lifespan and had healthy children. Other genetic factors may have compensated for the abnormality, or people with frequent HRV infections may not have reported them.

With intensive care, the child survived numerous bouts of illness. Her health improved as her immune system matured and formed protective antibodies against various infectious agents.

This study has led to a better understanding of the human response to the common cold. Using this information, researchers hope to find a more direct way to fight HRV infections. When people have other disease factors, HRV infection can become a tipping point and lead to severe illness, disability, or even death, Su says. Now that we better understand the pathway, we can investigate more targeted ways to intervene.

The human immune response to common cold viruses is poorly understood, says NIAID Director Dr. Anthony S. Fauci. By investigating this unique case, our researchers not only helped this child but also helped answer some important scientific questions about these ubiquitous infections that affect nearly everyone.

This article has been republished frommaterialsprovided by NIH. Note: material may have been edited for length and content. For further information, please contact the cited source.

Reference

Lamborn, I. T., Jing, H., Zhang, Y., Drutman, S. B., Abbott, J. K., Munir, S., ... & Masutani, E. (2017). Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. Journal of Experimental Medicine, jem-20161759.

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Rare Gene Mutation Reveals How the Body Responds to the Common Cold - Technology Networks

LogicBio Therapeutics has got off a $45 million series B funding round as it eyes the cash for disease-modifying gene therapies in rare childhood diseases.

London-based investment firm Arix Bioscience led the oversubscribed round in the semi-stealth biotech, with new investors OrbiMed, Edmond De Rothschild Investment Partners, Pontifax, and SBI, along with previous investors OrbiMed Israel Partners, also stumping up cash.

Arix Bioscience's investment manager, Daniel OConnell, M.D., Ph.D, will join Cambridge, Massachusetts-based LogicBios board as part of the raise. This brings its total raised to $50 million, much of which will be put toward finishing off preclinical work and moving them into human tests.

The biotech sets itself up as a breakthrough gene therapy company targeting lifelong cures for serious, early-onset rare diseases by combining the best of gene therapy and gene editing in a one-time treatment.

It was founded in 2014 with platform technologies discovered by Adi Barzel, Tel Aviv University, Dr Leszek Lisowski, Childrens Medical Research Institute, Australia, and Professor Mark Kay at Stanford University School of Medicine.

The first platform, GeneRide, is a technology that uses homologous recombination that is designed to allow site-specific transfer of therapeutic genetic material without the use of promoters or nucleases. The company says it also has access to a library of synthetic, non-pathogenic, recombinant adeno-associated viral (rAAV) vectors developed at Stanford that allows for better predictability of vector performance in clinical trials.

Joe Anderson, CEO of Arix Bioscience, said: Early intervention for rare genetic disorders in children is important and LogicBio is uniquely positioned at the forefront of this research area with its proprietary genetic therapy technology to deliver a durable cure for young patients with life-threatening genetic diseases and otherwise limited options. LogicBio has huge potential and, alongside its excellent team and investors, we look forward to supporting the company to achieve continued success in this area.

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Arix leads $45M series B for gene therapy biotech LogicBio - FierceBiotech

Canopy's NanoString service offers a simple, web-based ordering tool. Researchers are able to choose from one of NanoString's pre-made gene panels or design their own custom panel. Each panel enables the simultaneous measurement of over 700 genes.

Edward Weinstein, PhD, CEO of Canopy Biosciences, said "Canopy is excited to be able to offer NanoString services. NanoString instruments are costly, which has limited the access to this powerful technology for many researchers. Not only can we now offer the technology to all researchers, but we've also simplified the complex ordering process and can provide complete data analysis for our customers."

Canopy's NanoString service can be ordered directly from its website, http://www.canopybiosciences.com

About Canopy Biosciences

Canopy Biosciences was formed in 2016, partnering with leading research institutions to turn their discoveries into tangible products and make them available to the entire research community. Canopy Biosciences was formed with investment from BioGenerator, an evergreen investor in the St. Louis region. A complete list of products and services can be found at http://www.canopybiosciences.com.

Canopy Biosciences is trademarked by Canopy Biosciences, LLC.

To view the original version on PR Newswire, visit:http://www.prnewswire.com/news-releases/canopy-biosciences-launches-service-to-simultaneously-analyze-700-genes-in-a-single-sample-300475087.html

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http://www.canopybiosciences.com

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Canopy Biosciences Launches Service to Simultaneously Analyze >700 Genes in a Single Sample - PR Newswire (press release)

June 26, 2017 Credit: CC0 Public Domain

Between 15 and 20 percent of black people carry a genetic mutation that puts them at risk for certain chronic kidney disease, but only about half of them develop the illness - a variance that long has puzzled researchers. Now a study has found that the gene mutation's toxic effects require higher than normal levels of a protein called suPAR to trigger the onset and progression of the disease.

The results of the study, published in a research article in the journal Nature Medicine today, could lead soon to new treatments for chronic kidney disease that target these risk factors, according to Dr. Jochen Reiser, the senior author of the paper. Reiser is the chairperson of the Department of Internal Medicine and Ralph C. Brown MD Professor of Medicine at Rush University Medical Center, Chicago.

Chronic kidney disease - or CKD for short - is a progressive failure of function that prevents kidneys from fulfilling their role filtering waste from the blood stream. Nearly 17 percent of people in the U.S. have chronic kidney disease, and approximately 4 percent require dialysis and/or a kidney transplant due to kidney failure. Currently, there are no drugs that can treat CKD in an effective way.

Study analyzed samples from more than 1,000 people with genetic risk for CKD

For the study recounted in the Nature Medicine paper, Reiser worked with a team that included researchers at Emory University, Harvard University, Johns Hopkins University, the National Institute of Health, Ruprecht Karls University of Heidelberg, the Israel Institute of Technology and others. Together, they looked at two well-known genetic risk factors for CKD in black people, the mutated G1 or G2 variations in the gene known as apolipoprotein L1 (APOL1). To be at risk for developing CKD, an individual must have inherited two of these gene variants, one from each parent.

The study analyzed blood samples for suPAR levels, screened for APOL1 gene mutations and measured kidney function from two separate cohorts of black patients - 487 people from the Emory Cardiovascular Biobank, 15 percent of whom had a high-risk APOL1 genotype; and 607 from the multi-center African American Study of Kidney Disease and Hypertension, including 24 percent with the high-risk mutation.

Using these two large, unrelated cohorts, the researchers found that plasma suPAR levelsindependently predict renal function decline in individuals with two copies of APOL1 risk variants. APOL1-related risk is reduced by lower levels of plasma suPAR and strengthened by higher levels.

The team then went on and used purified proteins to study if suPAR and APOL1 bind to each other. They found that the mutated G1 and G2 variant did so particularly well on what's known as a receptor on the surface of kidney cells, in this case the suPAR activated receptor alphavbeta3 integrin. "This binding appears to be a key step in the disease onset" adds Dr. Kwi Hye Ko, a scientist at Rush and the study's co-first author.

This binding causes kidney cells to change their structure and function, permitting disease onset. Using cell models and genetically engineered mice, the authors then could reproduce kidney disease changes upon expression of APOL1 gene variants, but the disease required the presence suPAR.

Without elevated suPAR levels, genetic mutation much less likely to trigger disease

Everybody has suPAR, which is produced by bone marrow cells, in their blood, with normal levels around 2400 picogram per milliliter (pg/ml). As levels of suPAR rise, risk for kidney disease rises in turn.

Patients with levels above 3000 picogram per milliliter carry a much higher risk for kidney disease in the general population. Black people are particularly at risk, given the study's finding that suPAR activates its receptor on kidney cells that then attract the APOL1 risk proteins. Over time, these assaults can damage and eventually destroy the kidney.

On the other hand, without high levels of suPAR, the ability of the genetic mutation of APOL1 to exert its damaging effects is impaired, which helps identify patients in most need of suPAR lowering or future anti-suPAR therapy.

"Patients with APOL1 mutations who don't get kidney disease have more commonly low suPAR levels," said Dr. Salim Hayek, co-first author of the paper and a cardiologist at Emory University School of Medicine. "The suPAR level needs to be high to activate the mechanism in the kidney that enables APOL1 proteins" and set off the chain of events the genetic mutation can trigger.

suPAR 'is to the kidneys as cholesterol is to the heart'

Like some other pathological gene mutations, the APOL1 variations may have persisted in the population, in this case in Africa, because they could protect people from infection with the parasites known as trypanosome. explained Sanja Sever, PhD, co-correspondent author of the paper and associate professor of medicine at Harvard Medical School. In the United States, however, fighting parasitic trypanosomes isn't a significant concern, while lifestyle and environmental pressures such as obesity promote the rise in suPAR levels. This scenario sets up people for high risk of kidney disease.

Reiser has spent his career studying a scarring type of chronic kidney disease, focal segmental glomerulosclerosis. In past studies, he discovered that suPAR not only is a marker for kidney disease, but also a likely cause.

"What we are learning today is that suPAR in a general way is to kidneys what cholesterol is to the heart, a substance that can cause damage if levels rise too high, or a substance that can likely make many forms of kidney disease worse," Reiser says. "Based on these fundamental insights, suPAR level testing may become a routine test at many institutions around the world."

Like cholesterol, suPAR levels vary from person to person. Some environmental factors can contribute significantly to elevated suPAR levels. "Lifestyle is a big factor, bigger than we thought," Reiser says.

Smoking, weight gain and even frequent infections can add up and send suPAR to dangerous heights. Weight loss and smoking cessation can help bring levels down, but once elevated, suPAR may not recede to a healthy level again, said Dr. Melissa Tracy, co-author of the study and an associate professor of cardiology at Rush. People at genetic risk for kidney disease should aim to live a healthy life to keep suPAR levels low.

Explore further: Circulating blood factor linked with a leading cause of kidney failure

More information: A tripartite complex of suPAR, APOL1 risk variants and v3 integrin on podocytes mediates chronic kidney disease, Nature Medicine (2017). DOI: 10.1038/nm.4362

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Catalyst for genetic kidney disease in black people identified - Medical Xpress

June 26, 2017 New DNA-based LASSO molecule probe can bind target genome regions for functional cloning and analysis. Credit: Jennifer E. Fairman/Johns Hopkins University

Discovering the function of a gene requires cloning a DNA sequence and expressing it. Until now, this was performed on a one-gene-at-a-time basis, causing a bottleneck. Scientists at Rutgers University-New Brunswick in collaboration with Johns Hopkins University and Harvard Medical School have invented a technology to clone thousands of genes simultaneously and create massive libraries of proteins from DNA samples, potentially ushering in a new era of functional genomics.

"We think that the rapid, affordable, and high-throughput cloning of proteins and other genetic elements will greatly accelerate biological research to discover functions of molecules encoded by genomes and match the pace at which new genome sequencing data is coming out," said Biju Parekkadan, an associate professor in the Department of Biomedical Engineering at Rutgers University-New Brunswick.

In a study published online today in the journal Nature Biomedical Engineering, the researchers showed that their technologyLASSO (long-adapter single-strand oligonucleotide) probescan capture and clone thousands of long DNA fragments at once.

As a proof-of-concept, the researchers cloned more than 3,000 DNA fragments from E. coli bacteria, commonly used as a model organism with a catalogued genome sequence available.

"We captured about 95 percent of the gene targets we set out to capture, many of which were very large in DNA length, which has been challenging in the past," Parekkadan said. "I think there will certainly be more improvements over time."

They can now take a genome sequence (or many of them) and make a protein library for screening with unprecedented speed, cost-effectiveness and precision, allowing rapid discovery of potentially beneficial biomolecules from a genome.

In conducting their research, they coincidentally solved a longstanding problem in the genome sequencing field. When it comes to genetic sequencing of individual genomes, today's gold standard is to sequence small pieces of DNA one by one and overlay them to map out the full genome code. But short reads can be hard to interpret during the overlaying process and there hasn't been a way to sequence long fragments of DNA in a targeted and more efficient way. LASSO probes can do just this, capturing DNA targets of more than 1,000 base pairs in length where the current format captures about 100 base pairs.

The team also reported the capture and cloning of the first protein library, or suite of proteins, from a human microbiome sample. Shedding light on the human microbiome at a molecular level is a first step toward improving precision medicine efforts that affect the microbial communities that colonize our gut, skin and lungs, Parekkadan added. Precision medicine requires a deep and functional understanding, at a molecular level, of the drivers of healthy and disease-forming microbiota.

Today, the pharmaceutical industry screens synthetic chemical libraries of thousands of molecules to find one that may have a medicinal effect, said Parekkadan, who joined Rutgers' School of Engineering in January.

"Our vision is to apply the same approach but rapidly screen non-synthetic, biological or 'natural' molecules cloned from human or other genomes, including those of plants, animals and microbes," he said. "This could transform pharmaceutical drug discovery into biopharmaceutical drug discovery with much more effort."

The next phase, which is underway, is to improve the cloning process, build libraries and discover therapeutic proteins found in our genomes, Parekkadan said.

Explore further: Technical advances in reading long DNA sequences have ramifications in understanding primate evolution, human disease

More information: Long-adapter single-strand oligonucleotide probes for the massively multiplexed cloning of kilobase genome regions, Nature Biomedical Engineering (2017). DOI: 10.1038/s41551-017-0092

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Cloning thousands of genes for massive protein libraries - Phys.Org

June 26, 2017 Credit: CC0 Public Domain

The first results from a functional genetic catalogue of the laboratory mouse has been shared with the biomedical research community, revealing new insights into a range of rare diseases and the possibility of accelerating development of new treatments and precision medicine.

The research, which generated over 20 million pieces of data, has found 360 new disease models and provides 28,406 new descriptions of the genes' effects on mouse biology and disease. The new disease models are being made available to the biomedical community to aid their research.

The International Mouse Phenotyping Consortium (IMPC) is aiming to produce a complete catalogue of mammalian gene function across all genes. Their initial results, now published in Nature Genetics, is based on an analysis of the first 3,328 genes (15 per cent of the mouse genome coding for proteins).

Lead author Dr Damian Smedley from Queen Mary University of London (QMUL) and a Monarch Initiative Principal Investigator, said: "Although next generation sequencing has revolutionised the identification of new disease genes, there is still a lack of understanding of how these genes actually cause disease.

"These 360 new disease models that we've identified in mice represent the first steps of a hugely important international project. We hope researchers will be able to use this knowledge to develop new therapies for patients, which is ultimately what we're all striving to achieve."

With its similarity to human biology and ease of genetic modification, the laboratory mouse is arguably the preferred model organism for studying human genetic disease. However, the vast majority of the mouse genome remains poorly understood, as scientists tend to focus their research on a few specific areas of the genome linked to the most common inherited diseases.

Development of therapies for rare disease lags far behind, with over half of diagnosed rare diseases still having no known causative gene. This is why the IMPC is aiming to build a complete database that systematically details the functions of all areas of the mouse genome, including neurological, metabolic, cardiovascular, respiratory and immunological systems.

Terry Meehan, IMPC Project Coordinator at European Bioinformatics Institute (EMBL-EBI) said: "Mouse models allow us to speed up patient diagnosis and develop new therapies. But before that can work, we need to understand exactly what each gene does, and what diseases it is associated with. This is a significant effort in data collection and curation that goes well beyond the capabilities of individual labs. IMPC is creating a data resource that will benefit the entire biomedical community."

The project involves going through the mouse genome systematically and knocking out a particular gene, one by one, in different mice. By looking at the mouse's resulting characteristics in a variety of standardised tests, the team then see if and how the gene knockout manifests itself as a disease, and link their findings to what is already known about the human version of the disease. The 'one by one' knockout approach lends itself to rare gene discovery, as often these diseases are caused by variants of a single gene.

More than half of the 3,328 genes characterised have never been investigated in a mouse before, and for 1,092 genes, no molecular function or biological process were previously known from direct experimental evidence. These include genes that have now been found to be involved in the formation of blood components (potentially involved in a type of anaemia), cell proliferation and stem cell maintenance.

For the first time, human disease traits were seen in mouse models for forms of Bernard-Soulier syndrome (a blood clotting disorder), Bardet-Biedl syndrome (causing vision loss, obesity and extra fingers or toes) and Gordon Holmes syndrome (a neurodegenerative disorder with delayed puberty and lack of secondary sex characteristics).

The team also identified new candidate genes for diseases with an unknown molecular mechanism, including an inherited heart disease called 'Arrhythmogenic Right Ventricular Dysplasia' that affects the heart muscle, and Charcot-Marie-Tooth disease, which is characterised by nerve damage leading to muscle weakness and an awkward way of walking.

Dr Smedley added: "In addition to a better understanding of the disease mechanism and new treatments for rare disease patients, many of the lessons we learn here will also be of value to precision medicine, where the goal is to improve treatment through the customisation of healthcare based on a patient's genomic information."

Explore further: Major mouse study reveals the role of genes in disease

More information: 'Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium' by Meehan et al., Nature Genetics. DOI: 10.1038/ng.3901

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Characterizing the mouse genome reveals new gene functions and their role in human disease - Medical Xpress

June 26, 2017 In this image of neurons in the cerebellum of the brain, the yellow cells are Purkinje cells in which the channelrhodopsin-2 gene is being produced. Credit: Horwitz Lab/UW Medicine Seattle

UW Medicine researchers have developed a technique for inserting a gene into specific cell types in the adult brain in an animal model.

Recent work shows that the approach can be used to alter the function of brain circuits and change behavior. The study appears in the journal Neuron in the NeuroResources section.

Gregory Horwitz, associate professor of physiology and biophysics at the University of Washington School of Medicine in Seattle, led the research team. He said that the approach will allow scientists to better understand what roles select cell types play in the brain's complex circuitry.

Researchers hope that the approach might someday lead to developing treatments for conditions, such as epilepsy, that might be curable by activating a small group of cells.

"The brain is made up of a mix of many cell types performing different functions. One of the big challenges for neuroscience is finding ways to study the function of specific cell types selectively without affecting the function of other cell types nearby," Horwitz said. "Our study shows it is possible to selectively target a specific cell type in an adult brain using this technique and affect behavior nearly instantly."

In their study, Horowitz and his colleagues at the Washington National Primate Research Center in Seattle inserted a gene into cells in the cerebellum, a small structure located at the back of the brain and tucked under the brain's larger cerebrum.

The cerebellum's primary function is controlling motor movements. Disorders of the cerebellum generally lead to often disabling loss of coordination. Recent research suggests the cerebellum may also be important in learning and may be involved in such conditions as autism and schizophrenia.

The cells the scientists selected to study are called Purkinje cells. These cells, named after their discoverer, Czech anatomist Jan Evangelista Purkinje, are some of the largest in the human brain. They typically make connections with hundreds of other brain cells.

"The Purkinje cell is a mysterious cell," said Horwitz. "It's one of the biggest and most elaborate neurons and it processes signals from hundreds of thousands of other brain cells. We know it plays a critical role in movement and coordination. We just don't know how."

The gene they inserted, called channelrhodopsin-2, encodes for a light-sensitive protein that inserts itself into the brain cell's membrane. When exposed to light, it allows ions - tiny charged particles - to pass through the membrane. This triggers the brain cell to fire.

The technique, called optogenetics, is commonly used to study brain function in mice. But in these studies, the gene must be introduced into the embryonic mouse cell.

"This 'transgenic' approach has proved invaluable in the study of the brain," Horwitz said. "But if we are someday going to use it to treat disease, we need to find a way to introduce the gene later in life, when most neurological disorders appear."

The challenge for his research team was how to introduce channelrhodopsin-2 into a specific cell type in an adult animal. To achieve this, they used a modified virus that carried the gene for channelrhodopsin-2 along with segment of DNA called a promoter. The promoter stimulates the cell to start expressing the gene and make the channelrhodopsin-2 membrane protein. To make sure the gene was expressed only by Purkinje cells, the researchers used a promoter that is strongly active in Purkinje cells, called L7/Pcp2."

In their paper, the researchers reported that by painlessly injecting the modified virus into a small area of the cerebellum of rhesus macaque monkeys, the channelrhodopsin-2 was taken up exclusively by the targeted Purkinje cells. The researchers then showed that when they exposed the treated cells to light through a fine optical fiber, they were able stimulate the cells to fire at different rates and affect the animals' motor control.

Horwitz said that it was the fact that Purkinje cells express L7/Pcp2 promoter at a higher rate than other cells that made them more likely to produce the channelrhodopsin-2 membrane protein.

"This experiment demonstrates that you can engineer a viral vector with this specific promoter sequence and target a specific cell type," he said. "The promoter is the magic. Next, we want to use other promoters to target other cell types involved in other types of behaviors."

Explore further: New insights into control of neuronal circuitry could lead to treatments for an inherited motor disorder

More information: Yasmine El-Shamayleh et al, Selective Optogenetic Control of Purkinje Cells in Monkey Cerebellum, Neuron (2017). DOI: 10.1016/j.neuron.2017.06.002

Journal reference: Neuron

Provided by: University of Washington

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Study shines light on brain cells that coordinate movement - Medical Xpress

Friday, May 1, 2020

At least 2 billion people around the world have vision problems but how do you know if and when your pet is struggling with its own eyesight? Its a good question, especially in a year numbered 2020.

Dr. Wendy Townsend, associate professor of ophthalmology in Purdue Veterinary Medicines Department of Veterinary Clinical Sciences, has focused her career and research in veterinary medicine on diagnosing and treating eye conditions in animals. The most common question I get is if we fit animals with glasses, Dr. Townsend says. While thats not what we do, our goal is to help animals see better and improve their quality of life if theyre having issues.

Although her patients span a variety of species, her research is focused on a particular breed of dog that reigns as one of the most popular dog breeds in America: golden retrievers. Golden retriever pigmentary uveitis is a disease almost exclusively found in purebred golden retrievers. Its an inherited form of uveitis (inflammation of the uveal tract, which includes the iris). And though the disease is inherited, the onset and diagnosis usually occurs when the dogs are older.

The disease can often result in blindness due to cataracts and glaucoma, and there are no current methods to prevent or reverse it. Mild symptoms, such as redness and drainage, usually dont appear until the dog is around eight years old and can progress to an advanced stage before dogs see a veterinarian, Dr. Townsend says. The disease affects about 10% of senior golden retrievers.

Dr. Townsend is leading a study that is trying to identify the gene that causes the disease. If the gene can be identified, the disease can be detected earlier, and breeders will be able to identify which of their dogs might be carriers and how they can keep the disease from being passed on to future generations.

The problem breeders are facing right now is that even if theyre being responsible and making good decisions, they dont know their dog is affected, Dr. Townsend says. They can be several generations down their pedigree before they know theres a problem.

Dr. Townsend grew up owning golden retrievers and was completing her residency in veterinary ophthalmology when the disease was first recognized. It was bizarre because nobody could understand why it was happening in this specific breed, Dr. Townsend says. But since I loved golden retrievers and had a passion for ophthalmology, it seemed like a natural fit.

And although the disease presents itself primarily in purebred golden retrievers, Dr. Townsend explains that it can appear in some crossbreeds especially Labrador and golden retriever crosses. That becomes a concern because Labrador and golden crosses are frequently used as seeing-eye dogs, Dr. Townsend says. And because the disease doesnt show symptoms until these dogs are older, they could be struggling with their own vision and you might not even know.

Thats why Dr. Townsend says having dogs screened especially service dogs is critical. The earlier you can catch something, the better, Dr. Townsend says. That goes for all vision problems with any animal.

As a veterinary ophthalmologist, Dr. Townsend says its not uncommon for her to see dogs from across the country affected by golden retriever pigmentary uveitis. In addition to those patients, she commonly sees animals with corneal ulcers (scratches on the eye), cataracts, and glaucoma. Her patients include mostly dogs, horses, and cats but she also has treated penguins, tigers, and other exotic species.

And although she doesnt fit animals with glasses, she has fitted a dog or two with contact lenses. Theyre usually dogs that participate in agility and have trouble focusing or struggle with nearsightedness.

Sometimes animals struggle with the same eye problems that people do. Theyre just not as good at telling us when something is wrong, Dr. Townsend says. She consistently encourages pet owners to be cognizant of their pets eye health for that very reason.

Animals are good at compensating when something isnt working right. So if one eye is bothering them, theyll just rely more heavily on the other eye, Dr. Townsend says. And most of our pets dont need to have super-sharp vision to lead normal everyday lives. But in some cases like with dogs that participate in agility being able to focus both near and far is important.

As Dr. Townsend continues her mission to solve the mystery behind golden retriever pigmentary uveitis in addition to seeing her patients she hopes she can build some awareness around the field of ophthalmology. The eye might be small, but its a powerful organ that we all use and it allows me to work across a wide variety of species, Dr. Townsend explains. I frequently have clients tell me, I had no idea this was an option, or, I didnt know there were eye doctors for dogs. The impact this field can have on our patients and their quality of life can be significant.

Dr. Townsends work is supported by the American Kennel Clubs Canine Health Foundation.

Writer(s): Abbey Nickel, Purdue News Service, and Kevin Doerr | pvmnews@purdue.edu

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More Than Meets the Eye: Veterinary Ophthalmologist Wendy Townsend Focuses on Animal Eye Conditions - Purdue Veterinary News

Newswise MORGANTOWN, W.Va. Engineers in the Benjamin M. Statler College of Engineering and Mineral Resources at West Virginia University are using their expertise and equipment in a campus-wide effort to create personal protective equipment to keep up with the needs of health care providers in the fight against the COVID-19 pandemic.

Josh Bintrim and Kelsey Crawford, both Statler College graduates and Innovation Hub shop managers, have worked in collaboration with Hub Director Gene Cilento, Assistant Director Kolin Brownand health care professionals at WVU Health Sciences Center to design surgical mask extenders, face shields and intubation boxes for use in medical facilities.

Since initial production began two weeks ago, the Innovation Hub, a new prototyping center in development in the Statler College, has gone through multiple design iterations of products with input from physicians on the front lines of the pandemic.

The team has distributed more than 3,000 surgical mask extenders to local medical facilities, with calls coming in from California to Massachusetts, and even Ireland, requesting supplies and templates to create the mask extenders.

Now that medical professionals are required to wear surgical masks throughout their entire shift, there have been numerous reports of the masks causing irritation to the skin behind the ears. The mask extenders created in the Innovation Hub reduce the pressure behind the ears, affording the user an increased measure of comfort.

As long as supplies last, Bintrim and Crawford can use a laser cutter to create 300 extenders every hour.

Sourcing materials has been a big challenge, Crawford said. The response from the maker community has been great, but it has led to a shortage on clear, thin plastics. We have reached out to various companies and are adjusting previous designs to fit the materials that are available.

To maintain production of the face shields, the team is in need of 4 feet by 8 feet sheets of 0.03, 0.04 and .125 inch polycarbonate and 0.5 inch spools of elastic fabric, at least 6 inches long.

The team hopes to have an additional 3,000 surgical mask extenders, approximately 2,000 face shields and 40 intubation boxes completed and distributed to WVU Health Sciences Center and J.W. Ruby Memorial Hospital by the end of the week.

Parsing through all of the ideas and narrowing our focus on what we could do the fastest was a big challenge, Bintrim said. We went from 3D printing a face shield visor in five hours to completely redesigning the entire system to make an entire face shield in three minutes.

The Innovation Hub has made the directions for creating the face shields publicly available. The downloadable(231KB .zip) fileincludesface shield, visor and visor insert templates. See assembly video and materials required at bottom of article.

While the facility is not a manufacturing center, the team hopes that the templates will be used by companies who have the capacity to undergo mass distribution.

Obviously we wish that we could do everything, but we only have limited equipment and man hours, Bintrim said. I have always said that we are the college of engineering and that we should be the engineers for WVU. We now have a major collaboration between ourselves, HSC, Davis College and Eberly College and it allows us to do and be just that.

Now that the mask extenders and face shields have been in use for several days, Bintrim and Crawford explained that the feedback from health care workers has been very positive.

Everyone has been extremely grateful for the efforts that everyone is doing at WVU, Crawford said. We have had nurses and doctors almost in tears as they thank us.

The responses have been overwhelmingly positive, and people are incredibly thankful, Bintrim said. The hardest part is trying to tell everyone that we are the ones that are thankful for what they do and the risks they take every day by just going to work. We are just trying our best to support them in the fight.

To make donations of materials, questions regarding templates or distribution, contact Gene Cilento atGene.Cilento@mail.wvu.edu or by phone at 304-293-4088.

Downloadable templates, required materials and assembly video:

-WVU-

om/04/09/20

Call 1-855-WVU-NEWS for the latest West Virginia University news and information from WVUToday.

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West Virginia University partnerships help WVU Medicine community and beyond amidst personal protective equipment shortage - Newswise

Indians have some genetic advantage, but these are still early days to come to any conclusion

The fewer-than-expected cases positive to the novel coronavirus (SARS-CoV-2) in Indiahave spawned severaltheories, one of them being,Indians being immune to the virus.

It is theoretically possible as Indians are constantly exposed to microbes that keep the immune system primed, destroying pathogens attempting to attack. This is why children in very clean environments fall sick at the slightest exposure to a pathogen a concept known as the hygiene hypothesis.

Indians have some genetic advantage as well: Theyhave evolved to gain more genes that protect against viral infections, according to Rajalingam Raja, director of Immunogenetics and Transplantation Laboratory at the University of California in San Francisco, US. He said:

These genes enable natural killer (NK) cells, a type of white blood cells in our body that provide a first line of defense against viral infections

Two families of genes KIR genes and HLA genes playa part in this protective function. Indians have more KIR genes than the Chinese and caucasians. This could makeIndians more immune to the virus, according to Raja.

A similar mechanismprotectsbats from viruses like Ebola and SARS. Bats are immune since they have expanded gene families that enhance NK cell function, said Raja, who first wrote about NK cells in 2008 in journal Genes and Immunity.

This alone is, however, not enough to guide Indias strategy to fight the disease or even suggest that strict measures are not needed. A team of researchers from India and the US studied umbilical cord blood of children in the two countries and found differences. The findings were published in journal PLoS One in 2018.

We interpreted our study to suggest that Indian babies could be more susceptible to early-life infections if they had lower frequencies of certain immune cells, said Holden Maecker, director of the Human Immune Monitoring Center at Stanford University School of Medicine.

Persistent pathogen assault especially early in life is almost certainly detrimental. Thisisseen in the phenomenon of environmental enteropathy, where kids with poor sanitation and high enteric pathogen loadsdevelop malnutrition and stunting, Maecker said. But he agreed exposure to pathogens could equip the immune system better to fight new assaults like Zika or coronavirus, to an extent.

This was similar to the protective effect provided by latent tuberculosis. It was certainly possible that there was increasing resistance if not specific immunity to COVID-19 in certain genetic groups. It is difficult, however, to extrapolate this to all Indians who are a diverse collection of ethnic groups.

It is a balance and my guess is that its too soon to say where Indians as a whole will fall on this balance in terms of their sensitivity to COVID-19, hesaid.

Arguments about the Indian immune systemsare mostly speculative, according to Satyajit Rath of the National Institute of Immunology. He co-authored the 2018 study with Maecker.

I am yet to see any indication that COVID-19 will, in fact, turn out to be less prevalent and/or milder in India, since the epidemic is still in its early stages in the subcontinent, he said.

There are no publications, as of now, on the differential prevalence or outcome of COVID-19 among Indians and those of other ancestries worldwide.

Good nutrition, exercise and sleep can improve the immune system.

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COVID-19: Do Indians have higher immunity to novel coronavirus - Down To Earth Magazine

A rare disease is defined as any disease that affects a small percentage of the population. In the United States, a disease is classified as rare when fewer than 200,000 individuals are affected by it. According to the National Institutes of Health, there are approximately 6,500 to 7,000 known rare diseases affecting an estimated 25 million Americans.

One of these is Loeys-Dietz Syndrome (LDS), a disorder of connective tissue that can affect blood vessels, including the aorta, as well as bones, joints, cognitive ability and internal organs.

Here, Michigan Medicine cardiologist Marion Hofmann, M.D., who typically treats 10 to 15 Loeys-Dietz patients each year, sheds some light on this complex rare disease.

LDS is caused by a mutation in the TGFBR1, TGFBR2, SMAD3, TGFB2 or TGFB3 genes, as we know today. More could be identified in the future.

Loeys-Dietz Syndrome is a genetic condition, but not always inherited. In patients with the condition, we usually recommend genetic testing of the parents and siblings to see if it is inherited or if it is a new mutation. If the parent or siblings of a patient diagnosed with LDS do not test positive for the genetic variant, we assume the variant is present for the first time in one family member. This occurs in approximately 75% of LDS cases. There is a 50% chance the gene will be passed on regardless of whether LDS was inherited or a first time mutation.

Because relatively common symptoms can camouflage LDS, the condition may go undiagnosed until a serious complication occurs. Patients might be diagnosed with Loeys-Dietz after an aortic aneurysm (a weakened or bulging area on the wall of the aorta) is found on a CT scan or echocardiogram, or after experiencing a life-threatening aortic dissection (a tear in the inner layer of the aorta) or a dissection in other arteries. If a patient experiences either of these vascular conditions, we would likely suggest genetic testing to determine if Loeys-Dietz Syndrome was the cause.

In approximately 20% of patients experiencing an unexplained aortic dissection, we find gene abnormalities, including LDS, that predispose to aortic disease.

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Some patients, but not all, are diagnosed because of certain skeletal characteristics that point to Loeys-Dietz. These include a chest wall deformity in which the chest wall pushes outward or appears sunken, scoliosis, long and slender fingers, flexible joints, flat feet, translucent skin, abnormal scarring of the skin and a bulging or widening of the spinal sac surrounding the spinal cord. However, the spectrum of the disease is very broad and were finding that not all LDS patients exhibit these characteristics.

Genetic testing confirms a suspected LDS diagnosis. Other similar disorders such as Marfan Syndrome and Ehlers-Danlos Syndrome can present similar characteristics, so genetic testing is important to differentiate these disorders. In recent years weve realized just how complex LDS is. As clinical genetic testing is more commonly used, diagnostic accuracy for LDS has improved and were learning more about how LDS presents. For example, were finding that family members carrying the same mutation are affected differently. Cardiac and genetic evaluation of all family members is important for patients with LDS to identify other relatives at risk for the condition.

Patients with Loeys-Dietz need regular checkups and vascular imaging to identify high-risk situations that could lead to aortic dissection. We recommend medication to avoid high blood pressure, which puts stress on weakened areas of the aortic wall, lifestyle modifications and preventive surgery to treat aortic aneurysms deemed to be at high risk for dissection. Patients with LDS are typically prescribed beta blockers or angiotensin receptor blockers.

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Anyone experiencing an aortic dissection or an aneurysm requires lifelong care as they are more likely to have a future event. Patients with LDS require special counseling for family planning and during pregnancy.

Additional information comes from nationwide patient support groups and their symposiums. The U-M Frankel Cardiovascular Center, in collaboration with the Marfan Foundation, is hosting the Detroit regional symposium for Marfan Syndrome and related disorders on April 25, 2020.

Weve been able to gain important knowledge about LDS and other aortic-related conditions through worldwide collaboration of researchers interested in LDS and aortic dissection in general. The International Registry on Aortic Dissection was launched in 1996 and the Montalcino Aortic Consortium was formed in 2013 to collect and share information about the genetic causes of aortic dissection. The next GenTAC Aortic Summit, which is committed to advancing research, education and treatment of heritable aortic diseases, will be held October 10 and 11, 2020, in Ann Arbor, Michigan, and will be hosted by Michigan Medicine cardiologist Kim Eagle, M.D. Through these resources, were learning more about the condition and gaining insight into diagnosis and treatment advancements.

Importantly, 10-20% of patients with a history of what was thought to be sporadic or unexplained aortic dissections actually have an identifiable genetic cause, including LDS. Being able to pinpoint the genetic causes of disease is very powerful. It allows health care providers to use a gene-based medical management strategy, which is the goal of personalized medicine. Genetic counseling and potentially genetic testing is very important for family members of patients with unexplained aortic dissections as well as with Loeys-Dietz Syndrome.

Read more:
Loeys-Dietz Syndrome A Rare and Complex Heart Disease - University of Michigan Health System News

Some 100,000 Americans are placed on kidney dialysis and the transplant list every year in the U.S.

Rich Pedroncelli | AP

Medical experts are hoping 2020 will mark a turning point in the fight against kidney disease in America, thanks to advancing technology. Currently, the U.S. spends about $100 billion annually to treat the nearly 40 million Americans suffering from chronic kidney disease who need dialysis and organ transplants. The public health crisis, exacerbated by the rise in obesity and type 2 diabetes, is now the ninth leading cause of death in the nation, according to the Centers for Disease Control and Prevention.

President Donald Trump'sAdvancing American Kidney Health Initiative, launched in July, was a nod that this is one area of medicine in urgent need of innovation. The new plan calls for the CDC to improve kidney disease tracking and detection nationwide. It also calls for a change in Medicare provider payment models to prioritize preventive care from doctors, develop effective home-care dialysis and find ways to boost organ supply including encouraging the development of an artificial kidney.

President Donald Trump displays an executive order he has just signed during an event on kidney health at the Ronald Reagan Building and International Trade Center on July 10, 2019, in Washington, DC.

Alex Wong | Getty Images

One company making inroads in the field is RenalytixAI, an AI clinical diagnostics company for kidney disease. It has received an FDA breakthrough device designation for its KidneyIntelX, an AI-powered diagnostic product for kidney disease that is expected to launch in the second quarter of this year in the U.S.

The diagnostic developed in collaboration with the Mount Sinai Health System in New York City, which has 3 million patient health records and 52,000 biobank participants uses machine learning algorithms to assess the combination of blood-based biomarkers and electronic health records information and other genomic information to identify progressive kidney disease in patients. From this collection of data, the company aims to build new models to predict kidney disease progression and how a given patient might respond to a treatment.

In addition, it has developed FractalDX, a lab-based AI tool that can predict the risk of adverse transplant outcomes, including early kidney rejection.

"This is an epidemic, and it is a silent killer, since symptoms don't appear until the disease is in the final stages and a patient needs dialysis and transplantation," says James McCullough, CEO of RenalytixAI. "Just look at the numbers they are staggering. Some 100,000 Americans get put on kidney dialysis and the transplant list each year."

Despite the rising trend, there is an organ donor shortage in the U.S. Last year there were only about 21,000 donor organs available for transplant, according to The Kidney Project, at the University of California in San Francisco.

As a result, reveals data from Mount Sinai, 23% of people on kidney dialysis die every year.

Kidney transplant surgery.

BSIP | Universal Images Group | Getty Images

"Unfortunately, the disease is disproportionately hitting African and Hispanic Americans for two reasons," points out Dr. Girish Nadkarni, co-founder of RenalytixAI and an assistant professor of nephrology at Mount Sinai. "Many people in these populations have a genetic mutation of the APOL1 gene. In addition, because of socioeconomics, many don't have access to healthy food, and other poor socioeconomic conditions."

This is an epidemic, and it is a silent killer, since symptoms don't appear until the disease is in the final stages and a patient needs dialysis and transplantation.

James McCullough

CEO of RenalytixAI

Recognizing this problem, the Centers for Medicare and Medicaid Services has set a national price and reimbursement code for the KidneyIntelX test at $950, effective until December 2022, and the American Medical Association has provided a CPT reimbursement code. This should accelerate private insurers to provide coverage for the test.

Dr. Chirag Parikh, chief of nephrology at Johns Hopkins and a board member of RenalytixAI, is excited by the prospects of the new technology and other innovations in the field that are beginning to bubble up in the community. "In my 25-year career, I have never seen such a confluence of factors converging to bring about advances in the field." He pointed to public-private partnerships such as the KidneyX incubator a partnership between HHS and the American Society of Nephrology that's trying to reinvent kidney dialysis treatment.

Globally, kidney disease affects more than 850 million people, making its early detection crucial. It's a huge market that needs disruption, and companies such as Google are looking at finding ways to use AI to tackle the problem.

Last yearDeepMind, now part of Google Health, unveiled an algorithm that predicts acute kidney injuries in patients who would end up needing dialysis 48 hours before many symptoms can be recognized by doctors. The work was the result of a project with the U.S. Department of Veteran Affairs.

More here:
A major breakthrough for the millions of Americans on the brink of kidney failure and dialysis - CNBC

In 2018, Pfizer initiated a Phase Ib clinical trial of its gene therapy treatment for Duchenne muscular dystrophy (DMD). The AAV9 gene therapy, PF-06939926, is designed to provide DMD patients with a form of the dystrophin gene at the root of the condition, thereby countering the progressive muscle degeneration and weakness that characterizes the disease.

Pfizer planned to dose 15 patients with the gene therapy, which must be stored at -70C. In light of those factors, Pfizer opted for a patient-led supply model that would only ship product once a subject was enrolled and ready for treatment.

The model made the lag between a site requesting and receiving product critical, as during that time patients with a progressive disease would be waiting for a potentially beneficial treatment. Pfizers goal was to package and ship the gene therapy to patients within two weeks.

That goal created challenges. Typically, the lag between the ordering and shipment of trial materials is six to eight weeks. Almac had already reduced that lead time by applying LEAN packaging and labelling principles but needed to shave a further two weeks off to meet Pfizers demands.

To do so, Almacs clinical services unit developed a dedicated packaging and labelling process. The process, which Almac executed at its US facility in Souderton, Pennsylvania, resulted in a 12-day lead time for the first patient enrolled in the trial.

Almac provided the packaging specification within two business days. Pfizer granted approval in one working day. Packaging and labelling took place four to five days after receipt of the initial request.

The case study presented by Almac covers the shipment of a gene therapy to a single patient. Yet, the process it describes has broader relevance for drug developers and contract packagers in an era defined by therapies targeting small patient populations.

In the four years preceding late 2019, the number of clinical trials of advanced therapy medicinal products (ATMP), such as cell and gene therapies, increased by two thirds, according to data tracked by the Alliance for Regenerative Medicine. Many ATMPs place new pressures on supply chains, which are adapting to quickly get medicines to patients.

See the article here:
Almac and Pfizer slash gene therapy labeling times - OutSourcing-Pharma.com

REDWOOD CITY, Calif., Jan. 28, 2020 (GLOBE NEWSWIRE) -- Adverum Biotechnologies, Inc. (Nasdaq: ADVM), a clinical-stage gene therapy company targeting unmet medical needs in ocular and rare diseases, today announced the presentation of 24-week data from the second cohort of patients (n=6; 2 x 1011 vg/eye) as well as an update from the first cohort of patients (n=6; 6 x 1011 vg/eye) in the OPTIC Phase1 clinical trial of ADVM-022 intravitreal gene therapy in wet AMD at the Angiogenesis, Exudation, and Degeneration 2020 Meeting.

Adverum plans to issue a press release relating to the presentation and post the presentation on Adverums website at http://www.adverum.com in the Investors section under the Events and Presentations page at the beginning of the data presentation at Angiogenesis.

KOL Event Details:In addition, Adverum will host an event with expert retinal specialists to discuss the OPTIC data presented at Angiogenesis and the potential opportunity for ADVM-022. The discussion will be held on Sunday, February 9, 2020 beginning at 10:00 am EST. The event will be webcast live from Adverums website at http://www.adverum.com in the Investors section under the Events and Presentations page. A replay of the webcast will be archived and available for replay following the event.

About Adverum BiotechnologiesAdverum Biotechnologies (Nasdaq: ADVM) is a clinical-stage gene therapy company targeting unmet medical needs in serious ocular and rare diseases. Adverum is evaluating its novel gene therapy candidate, ADVM-022, as a one-time, intravitreal injection for the treatment of its lead indication, wet age-related macular degeneration. For more information, please visit http://www.adverum.com.

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Adverum Biotechnologies to Present Additional Data from the OPTIC Phase 1 Trial with ADVM-022 Intravitreal Gene Therapy in Wet AMD at the...