This Founder is using Synbio to Revolutionize Genetic Medicine – Labiotech.eu (blog)

Posted on May 2, 2017 by ev1

Oxford Genetics founder and CEO Ryan Cawood told me about his companys improvements to DNA design for better biologicals.

Last month at Synbiobeta, I caught up with Ryan Cawood, who created one of the most successful synthetic biology companies around, Oxford Genetics. Our direction actually took off from this conference, he told me. We saw that the cost of DNA synthesis is going to be driven down, so this was not a market for us to compete in.

Instead of focusing on making DNA engineering cheaper, Cawood decided to explore how to improve the quality of its products. Specific inspiration came in the form of frustration as he was trying to finish his PhD in genetics at Oxford University

I was making gene therapy plasmids, and they were increasingly hard to test because we just couldnt make them. They were 50 to 100 kilobases for different viruses with no standardization one section camefrom Spain, one section from the US, and one from the back of the freezerit was a sort of genetic car crash, as my PI, Len Seymour, called it.

As a company, we set out to improve this by focusing on DNA design we now help other companies working on therapeutics develop them better with SnapFast, a lego-like core DNA system.

In 2011, I formed the company by taking out bank loan. Then I negotiated a lab bench from local company in return for gene engineering for them. Finally, I built a website. Ive since obtained seven grants and connected with solid investors. Mercia Technologies has invested three times now the first time was in 2013 and on this next round, someone else will probably come in as well.

Len, my former lab PI, is still on the board as one of the cofounders. He was actually involved in founding two biotech companies before hand, one for oncolytic viruses (PsiOxus Therapeutics) and one for protein expression (The Native Antigen Company).

Cawoods lightning talk at Synbiobeta: fromsynthetic biology, Oxford Genetics is building up to improve biological drugsto reachpersonalised versions.

Well, our trajectory and plan was to build better DNA tech for the design and synthesis to discover and manufacture biologicals better. Fundamentally, youre always trying to build a tool to develop these better.

What Id like to see from the field is a major advancement of human therapeutics. There are four major challenges in biological development that were working to address: discovery, design, production and delivery basically every step.

We think Snapfast DNA will improve all of them because DNA is an integral part of each. So, we can absolutely use synbio to improve cell and gene therapies and biologics.

People who work in the area think of synbio as making things in algae, or making new genetic circuits etc, but dont necessarily see consequences for human health. The field has a huge role to play in tying the genetics of an individual human to a therapeutic treatment based on DNA. At the moment, there is no such pairing were a long way from that, but with synbio well get there.

We take a sort of blunt hammer approach now: its very inefficient therapeutically, and its a very inefficient use of government funds. By funding a better understanding of people, youll see significant gains intreatmentefficiencies.

The current approach is far too retrospective at the moment: we give a drug and then try to figure out why it worked in some people afterwards, or we just carry on giving it everyone knowing only a few people will benefit, in the future I hope we can predict efficacy and act upon that calculation.

Im still very much motivated by the therapeutic side of synthetic biology. Not everyone working at the company has a background in human genetics some come from working on archaea, but they all are oriented towards working towards therapeutics. Even my PA has first class degree in genetics.

DNA foundries are all the rage in synbio now, but we were much more interested in biology than physical manufacture that is, were much more focused on end goal versus how you get there. This thinking has changed the company a lot: instead of just making things, were designing things.

Images from Oxford Genetics,author at Synbiobeta, 04 April 2017, Mercia, & Sergei Drozd, Saibarakova Ilona /shutterstock.com

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This Founder is using Synbio to Revolutionize Genetic Medicine - Labiotech.eu (blog)

Smoking-related heart disease tied to effects of a single gene – Medical Xpress

Posted on May 2, 2017 by Danzig

May 1, 2017 Credit: Vera Kratochvil/public domain

Researchers have found a genetic explanation for how smoking can lead to coronary heart disease (CHD). Many people have a protective gene type that reduces levels of an enzyme connected to artery-clogging fatty plaques and CHD. However, in people carrying this gene, smoking counteracts the protective effect.

"Our finding suggest that interventions to inhibit this enzyme would be particularly beneficial for smokers, and they may also prove useful for anyone at heightened risk of coronary heart disease," said study leader Muredach P. Reilly, MBBCH, MSCE, the Herbert and Florence Irving Professor of Medicine (in Cardiology) and director of the Irving Institute for Clinical and Translational Research at Columbia University Medical Center (CUMC).

The study, the largest of its kind, was published online today in the journal Circulation.

Cigarette smoking is known to cause about one in five cases of CHD, and is linked to approximately 1.6 million deaths worldwide each year. But the precise mechanisms by which smoking leads to CHD has not been clear. To learn more about how genetics affect the interplay between smoking and heart disease, the researchers pooled genetic data on more than 140,000 people from 29 previous studies. They analyzed 45 small regions of the genome that have been previously associated with a heightened risk of CHD. They hypothesized that for some of these regions, the associated heart risk would be different in smokers than in non-smokers.

The analysis showed that a change in a single DNA "letter" on chromosome 15, near the gene that expresses an enzyme (ADAMTS7) produced in blood vessels, was associated with a 12 percent reduction in heart risk in non-smokers. However, smokers with this same variation had only a 5 percent lower risk of CHDreducing by over half the protective effect of this genetic variation.

DNA variations located near a gene sometimes inhibit the gene's activity, causing below-normal levels of the protein it produces. In this case, the researchers discovered that the single-letter DNA variation that protected patients from CHD resulted in a significant decline in the production of ADAMTS7.

In a separate recent mouse study, Dr. Reilly's lab demonstrated that genetic deletion of ADAMTS7 reduced the buildup of fatty plaques in arteries, suggesting that blocking the production or function of this enzyme might be a way to lower the risk of CHD.

In the current study, when the researchers applied a liquid extract of cigarette smoke to coronary artery cells, the cells' production of ADAMTS7 more than doubled, supporting the conclusion that smoking may counteract the genetic protection from CHD by increasing the level of ADAMTS7 in the artery wall.

"This has been one of the first big steps towards solving the complex puzzle of gene-environment interactions that lead to CHD," said lead author Danish Saleheen, PhD, assistant professor of biostatistics and epidemiology at the Perelman School of Medicine at the University of Pennsylvania.

In future studies, the researchers hope to establish exactly how the ADAMTS7 variants protect against CHD, how cigarette smoking affects the activity of the gene that produces the enzyme, and whether reducing or inhibiting ADAMTS7 can slow the progression of atherosclerosis due to cigarette smoking.

"This study is an important example of the emerging field of precision medicine and precision public health," said Dr. Reilly. "Through these large-scale genetic studies, we're beginning to understand the genetic variations that drive risk in response to certain environmental exposures or lifestyle behaviors. Not everyone reacts the same to the same exposures or behaviors. For example, some people who don't exercise develop diabetes while others do not. So, instead of saying there are rules for everybody, we can specify which interventions will be especially beneficial for specific populations or individuals and focus our health resources more efficiently."

The study is titled, "Loss of Cardio-Protective Effects at the ADAMTS7 Locus Due to Gene-Smoking Interactions."

Explore further: Scientists identify new therapeutic target for coronary heart disease

More information: Danish Saleheen et al. Loss of Cardio-Protective Effects at theLocus Due to Gene-Smoking Interactions, Circulation (2017). DOI: 10.1161/CIRCULATIONAHA.116.022069 , circ.ahajournals.org/content/early/2017/04/20/CIRCULATIONAHA.116.022069

Scientists investigating how certain genes affect an individual's risk of developing coronary heart disease have identified a new therapeutic target, according to research published today in The American Journal of Human ...

Natural genetic changes can put some people at high risk of certain conditions, such as breast cancer, Alzheimer's disease or high blood pressure. But in rare cases, genetic errors also can have the opposite effect, protecting ...

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Increased relative risks for coronary heart disease (CHD) have long been associated with smoking, and traditionally they have been dependent on the number of cigarettes smoked a day, smoking intensities, and total exposure ...

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Novel gene editing approach to cancer treatment shows promise in mice – Medical Xpress

Posted on May 2, 2017 by ev1

May 1, 2017 Killer T cells surround a cancer cell. Credit: NIH

"This is the first time that gene editing has been used to specifically target cancer fusion genes. It is really exciting because it lays the groundwork for what could become a totally new approach to treating cancer," explained lead study author Jian-Hua Luo, M.D., Ph.D., professor of pathology at Pitt's School of Medicine and director of its High Throughput Genome Center.

Fusion genes, which often are associated with cancer, form when two previously separate genes become joined together and produce an abnormal protein that can cause or promote cancer.

Luo and his team had previously identified a panel of fusion genes responsible for recurrent and aggressive prostate cancer. In a study published earlier this year in the journal Gastroenterology, the team reported that one of these fusion genes, known as MAN2A1-FER, also is found in several other types of cancer, including that of the liver, lungs and ovaries, and is responsible for rapid tumor growth and invasiveness.

In the current study, the researchers employed the CRISPR-Cas9 genome editing technology to target unique DNA sequences formed because of the gene fusion. The team used viruses to deliver the gene editing tools that cut out the mutated DNA of the fusion gene and replaced it with a gene that leads to death of the cancer cells. Because the fusion gene is present only in cancer cells, not healthy ones, the gene therapy is highly specific. Such an approach could come with significantly fewer side effects when translated to the clinic, which is a major concern with other cancer treatments such as chemotherapy.

To conduct the study, the researchers used mouse models that had received transplants of human prostate and liver cancer cells. Editing the cancer fusion gene resulted in up to 30 percent reduction in tumor size. None of the mice exhibited metastasis and all survived during the eight-week observation period. In contrast, in control mice treated with viruses designed to cut out another fusion gene not present in their tumors, the tumors increased nearly 40-fold in size, metastasis was observed in most animals, and all died before the end of the study.

The new findings suggest a completely new way to combat cancer. "Other types of cancer treatments target the foot soldiers of the army. Our approach is to target the command center, so there is no chance for the enemy's soldiers to regroup in the battlefield for a comeback," said Luo.

Another advantage over traditional cancer treatment is that the new approach is very adaptive. A common problem that renders standard chemotherapies ineffective is that the cancer cells evolve to generate new mutations. Using genome editing, the new mutations could be targeted to continue fighting the disease, Luo noted.

In the future, the researchers plan to test whether this strategy could completely eradicate the disease rather than induce the partial remission observed in the current study.

Explore further: A new approach to target an 'undruggable' prostate cancer driver

More information: Targeting genomic rearrangements in tumor cells through Cas9-mediated insertion of a suicide gene, Nature Biotechnology (2017). nature.com/articles/doi:10.1038/nbt.3843

New research suggests a novel strategy to target a genetic anomaly that occurs in half of all prostate cancers.

Using the gene-editing system known as CRISPR, MIT researchers have shown in mice that they can generate colon tumors that very closely resemble human tumors. This advance should help scientists learn more about how the disease ...

Researchers from Memorial Sloan Kettering Cancer Center (MSK) have harnessed the power of CRISPR/Cas9 to create more-potent chimeric antigen receptor (CAR) T cells that enhance tumor rejection in mice. The unexpected findings, ...

Angiosarcoma is a malignant cancer of the endothelial cells of blood or lymphatic vessels. Cutaneous angiosarcoma, a form of skin cancer, commonly occurs on the scalp of elderly people and can rapidly metastasize to the liver, ...

A genetic discovery out of the University of Pittsburgh School of Medicine is leading to a highly accurate test for aggressive prostate cancer and identifies new avenues for treatment.

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Novel gene editing approach to cancer treatment shows promise in mice - Medical Xpress

First US success of nonhuman primate gene editing – Medical Xpress

Posted on May 2, 2017 by Danzig

May 1, 2017 Credit: CC0 Public Domain

Mice have been and will continue to be good base models for human medicinal advances. However, their size and some of their physiological differences leave them lacking in important areas of human medicine, including neurological and reproductive research.

In a study led by Michigan State University, scientists have shown that gene editing using CRISPR/Cas9 technology can be quite effective in rhesus monkey embryos - the first time this has been demonstrated in the U.S.

The results, published in the current issue of Human Molecular Genetics, open the door for pursuing gene editing in nonhuman primates as models for new therapies, including pharmacological, gene- and stem cell-based therapies, said Keith Latham, MSU animal science professor and lead author of the study.

"Our paper is the first in the U.S. to publish on the use of this technology in nonhuman primate embryos," he said. "Using nonhuman primate embryos is important because the closer we can approximate the human condition in the animal model, the better the chances of developing successful treatments as well as limiting risks that may be encountered in clinical trials."

While mice are mammals, they bear litters rather than individual offspring. Their anatomy and physiology differ in many respects from humans. While many advances in understanding diseases have been made first using mouse models, making the leap from a successful mouse study to clinical trials can be difficult or impossible for some areas of research.

"If scientists want to test drugs for dementia, Alzheimer's or autism, ideal models would react similarly to humans in regards to the reduction of symptoms, outbreak of side effects, such as enduring the same lesions as humans do, or exhibiting similar behavioral characteristics," said Latham, who's with the College of Agriculture and Natural Resources and an MSU AgBioResearch scientist.

"Nonhuman primates are much better models for such diseases. And in terms of some surgical procedures, implants, developing prosthetics, or other therapies, nonhuman primates can prove better suited than rodents."

CRISPR has opened the door to do gene editing in many species other than mice. Developing this technology in nonhuman primates in the U.S. would allow more scientists in this country to incorporate these models into their research, he added.

The advances will allow scientists to move forward and tackle some of the technical barriers related to the research. Other issues that may be later resolved are the commitment to increased costs and longer waiting times when using nonhuman primates.

Fruit flies, often used in genetic studies, reproduce in two weeks. Rodents, with pre-disposed genetic characteristics, can be easily ordered and shipped to laboratories within days. Committing to raising nonhuman primates can cost around $15,000 and can take as long as 4-6 years to have a mature monkey with the desired genetic characteristics.

The high-efficiency of gene editing that scientists are now able to achieve makes it worth the cost and the wait, Latham said.

To conduct the research, Latham partnered with the California National Primate Research Center, where the monkey embryos were produced, in collaboration with his co-investigator Dr. Catherine VandeVoort, an expert in nonhuman primate reproduction. Dr. Daniel Bauer, at Harvard Medical School, Boston Children's Hospital and Dana-Farber Cancer Institute also collaborated on the study.

The resources offered by the CNPRC were crucial for this work, Latham said.

"Extreme amounts of care go into maintaining the well-being of the monkeys," he said. "They follow strict protocols to ensure this is a priority. So being able to conduct the science here at Michigan State while partnering with the center is the best combination of science and animal welfare."

Explore further: First non-human primate model for severe combined immunodeficiency

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Many gene therapy-based approaches are in development to combat genetic and other causes of blindness and vision loss, and much can be learned about the safety and effectiveness of these promising new therapies by studying ...

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I saw a monkey video with 4' long tail. Similarly, there are monkeys with almost NO TAIL. So, They must Start with Changing Tail sizes of Rhesus Monkeys resembling those of different species! That will NOT hurt The Monkey & Will Tell us WHY we Don't have Tails! Laymen Too will Then Believe/Trust Gene Editing!

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2017 Global Gene Medicine Therapy Market in North America … – Edition Time

Posted on April 4, 2017 by ev1

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Gene sequencing at Yale finding personalized root of disease; new center opens in West Haven – New Haven Register

Posted on May 2, 2017 by Fredricko

WEST HAVEN >> Our genes define our individuality, including what diseases to which we may be susceptible.

In just a few days, gene-sequencing machines can map all of a persons genes, revealing the cause of a genetic illness and even suggesting the best possible treatment.

On Monday, the Yale School of Medicine, partnering with Yale New Haven Hospital, took the next step toward personalized medicine, cutting the ribbon on its Center for Genome Analysis on Yales West Campus.

Dr. Murat Gunel, professor of genetics and neuroscience in the medical school, gave a vivid example of how gene sequencing can save lives:

About three months ago a baby was born in New Haven with a really, really significant skin disease that we had to transfer him to the intensive care unit. And he was dying, and we didnt know what was wrong with him, Gunel said. In six days we were able to sequence his genome, understand his disease and he is at home playing with his mother now.

The baby suffered from dystrophic epidermolysis bullosa, which makes the skin extremely fragile, and its caused by a mutation in just one gene: COL7A1. Gunel said Dr. Keith Choate first saw the baby on a Saturday and by Friday had the diagnosis. This is a daily occurrence, Gunel said.

Choate said the genetic analysis showed the infant had a mild case of the disease, which was limited to the hands and feet. He is receiving advanced wound care, Choate said.

The pair of NovaSeq 6000 gene-sequencing machines that are churning out this information with three more on the way will help researchers find treatments and cures for cancers, prenatal diseases and others at a faster and faster pace.

Of 20,000 genes in the human genome, 57 have been identified for which preventive measures can be taken or treatment can be prescribed if an abnormality or mutation is found. For example, mutations in the BRCA1 or BRCA2 genes increase a womans risk of developing breast or uterine cancer.

We are sequencing every cancer at Smilow now, understanding what is specific for that cancer and giving treatment specific to that individual, Gunel said. We want to take from these specific diseases not only for prenatal, not only for newborn, not only for cancer, but [to] understand the health of an individual. We want to make Connecticut the healthiest state in the nation by sequencing and understanding the differences between all of us.

Dr. Robert Alpern, dean of the Yale School of Medicine, said, The idea is that you can know the total sequence of a patient and then follow their history, their health, what happens to them and then correlate them together so that someday we will be able to predict everything about ones health just from their DNA sequence.

Yale has done so much for New Haven, so much for New Haven County and now so much for this country, said Senate Republican President Pro Tem Len Fasano of North Haven.

Referring to the ability to map a persons genome within days, Fasano said, You can take that and figure out how the environment affects different lives by looking at different gene structure, comparing to different parts of the country or whether its an urban area versus a suburban area. The research that can stem from this is pretty amazing when you think of it.

The growing field also is a boon to the states economy. Senate Democratic President Pro Tem Martin Looney of New Haven said, This commitment to the advancement of health and medicine will have far-reaching and positive impacts on our economy and overall well-being for years to come. We know were going to need data scientists, health information specialists, clinical analysts, genomic counselors, to name just a few of the specialties that are going to create huge opportunities for new employment in our state.

Marna Borgstrom, CEO of Yale New Haven Health, which includes the hospital, said, Theres great work being done here and our interest has been, who does this apply to and how can we make this available to patients? And with our partners at the medical school were committed to providing unparalleled value to people we serve, and part of value is giving people outcomes that are meaningful to them.

And so you start to think about areas like prenatal diagnoses, like certain newborn diseases, difficult cancers and the ability to take all of the drugs and the treatments and the information thats out there but actually create a specialized plan for each patient as each patients going to respond differently, she said.

Call Ed Stannard at 203-680-9382.

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Gene sequencing at Yale finding personalized root of disease; new center opens in West Haven - New Haven Register

Gene Changes May Put Childhood Cancer Survivors at Risk – Montana Standard

Posted on April 4, 2017 by Danzig

MONDAY, April 3, 2017 (HealthDay News) -- Many survivors of childhood cancer have mutations in cancer-associated genes, possibly increasing their risk for cancers later in life, researchers report.

The new study included more than 3,000 people who survived childhood cancer for five years or more. More than 12 percent had changes in one of 156 genes linked to increased risk of cancer, the findings showed.

By age 45, more than one-quarter of the people had developed another cancer, most commonly meningioma (brain tumor), thyroid cancer, breast cancer and non-melanoma skin cancer, according to the study.

The report was scheduled for presentation Monday at an American Association for Cancer Research (AACR) meeting in Washington, D.C. Research presented at medical meetings should be considered preliminary until it is published in a peer-reviewed journal.

"The remarkable advances realized over the past four decades in the treatment and survival of pediatric cancer patients is one of the most notable success stories within the cancer field," co-senior study author Les Robison said in an AACR news release. Robison is chairman of St. Jude Children's Research Hospital's department of epidemiology and cancer control in Memphis, Tenn.

"However, childhood cancer survivors are at increased risk of [additional cancers], largely considered to be therapy-related," he added.

Many types of childhood cancer have cure rates of more than 80 percent, and there are now more than 400,000 long-term survivors of childhood cancer in the United States, Robison noted.

While radiation therapy puts them at risk of developing cancers in such areas as the brain, skin, breast, thyroid and connective tissue, this study shows that genetics independently increase the risk for breast cancer, thyroid cancer and sarcomas, Robison said. Sarcomas are tumors that commonly grow in connective tissue, such as the bones, muscles and tendons.

"Our findings have immediate implications for the growing population of long-term survivors of childhood cancer," he said.

The study authors recommend that people who develop specific types of abnormal tissue growth receive genetic counseling.

Robison said the researchers believe the study findings will lead to personalized treatment recommendations based on genetic profiles for children who are newly diagnosed with cancer.

Study co-lead author Zhaoming Wang said more research is needed to understand the possible links between genetic factors and exposure to cancer treatments. In addition, Wang, also with St. Jude's department of epidemiology and cancer control, suggested that further study is needed to replicate the new findings.

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Gene Changes May Put Childhood Cancer Survivors at Risk - Montana Standard

Genetic errors associated with heart health may guide drug development – Science Daily

Posted on April 4, 2017 by Fredricko

Genetic errors associated with heart health may guide drug development
Science Daily
A new study of such "beneficial" genetic mutations, led by Washington University School of Medicine in St. Louis, may provide guidance on the design of new therapies intended to reduce the risk of heart attacks. The study is published March 29 in the ...
Gene mutation could help develop drug to reduce heart attacksCardiovascular Business

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Genetic errors associated with heart health may guide drug development - Science Daily

Meningitis bacteria adapting to STI niche, genetic analysis shows – Medical Xpress

Posted on April 4, 2017 by Fredricko

April 3, 2017 The growth of Neisseria meningitidis colonies on New York City Medium Agar. Credit: Wikipedia

Neisseria meningitidis, a bacterium usually associated with meningitis and sepsis, is the cause of a recent cluster of sexually transmitted infections in Columbus, Ohio and in other US cities. The bacterium appears to be adapting to a urogenital environment, an analysis of the organism's DNA shows.

The DNA analysis helps doctors track the spread of this type of bacteria, distinguish it from others, anticipate which vaccines might be protective, and understand how it has evolved.

The findings are scheduled for publication in PNAS.

Genetic changes make this "clade" of N. meningitidis look more like relatives that are known to cause gonorrhea, says lead author Yih-Ling Tzeng, PhD, assistant professor of medicine (infectious diseases) at Emory University School of Medicine.

In particular, the bacteria have lost their outer coat-capsules, potentially enhancing their ability to stick to mucosal surfaces in the body, and have gained enzymes that promote growth in a low-oxygen environment.

Some good news is that the capsule-less organism is less likely to cause invasive diseases such as meningitis, because the capsule protects the bacteria against components of the immune system found in the blood, Tzeng says.

N. meningitidis is carried at the back of the nose and throat, without symptoms, in 5 to 10 percent of people. As its name suggests, when N. meningitidis invades other parts of the body, it can cause meningitis, an infection of the lining of the brain and spinal cord, as well as deadly bloodstream infections.

In 2015, N. meningitidis began to appear in heterosexual men coming to the Sexual Health Clinic in Columbus as the cause of urethritis: inflammation leading to painful urination. These infections were initially presumed to be gonorrhea, caused by N. gonorrhoeae. More than 100 cases have been reported in Columbus, and the same type of N. meningitidis infection has appeared in Michigan, Indiana and Georgia.

Jose Bazan, DO, the Clinic's medical director and assistant professor of medicine (infectious diseases) at Ohio State University and Abby Norris Turner PhD, assistant professor of medicine (infectious diseases) teamed up with Tzeng and David Stephens, MD, professor of medicine of Emory University School of Medicine, and colleagues from Indiana University School of Medicine and the Centers for Disease Control and Prevention (CDC) to investigate.

The Columbus clinic is part of the CDC's nationwide Gonococcal Isolate Surveillance Project (GISP), which monitors antibiotic resistance. Emory co-authors include Carlos del Rio, MD, professor of medicine and global health and director of the Atlanta GISP laboratory, and Timothy Read, PhD, associate professor of medicine and human genetics.

The scientists looked at the genomes of 52 N. meningitidis samples from Columbus, and two from Indianapolis and two from Atlanta. All 56 genomes had many common features, so they're closely related, but they are continuing to evolve.

N. meningitidis is usually classified by serogroups, based on the structure of the capsule. . Vaccines against the A, C, Y, and W serogroups have been available in the US for years, and vaccines against serogroup B were introduced in 2014.

Outbreaks of N. meningitidis serogroup C meningitis and sepsis have been observed in several countries among men who have sex with men. In contrast, the bacteria described in the PNAS paper could not be assigned to any serogroup based on initial screening tests.

The loss of several genes for synthesizing components of the capsule explains the blank result, Tzeng says. However, clues in the DNA of the capsule-less bacteria make them look like they were originally derived from a serogroup C ancestor.

It is possible that vaccines that were approved in the last few years against the B serogroup might still be effective against this meningococcal clade, because the capsule-less bacteria continue to produce other proteins targeted by those vaccines, the scientists found. A vaccine against gonorrhea has been a challenge, because repeat infections are common.

N. meningitidis doesn't usually encounter low-oxygen conditions, but this clade, linked to urethritis, has picked up genes that help them to grow in the environment of the urogenital tract. Based on their sequences, the genes appear to have come directly from N. gonorrhoeae, suggesting that on at least one occasion, the two types of bacteria were in the same place and exchanged DNA.

"All the urethritis patients responded to standard treatments for gonorrhea and there were no alarming resistance markers," Tzeng says. "However, as the gene conversion demonstrates, this clade can readily take up DNA from gonococci and it is not unthinkable that gonococcal antibiotic resistance genes could jump into this clade by gene transfer, if it is to its advantage."

Explore further: Harmless bacteria may be helpful against meningococcal outbreaks

More information: Emergence of a new Neisseria meningitidis clonal complex 11 lineage 11.2 clade as an effective urogenital pathogen, PNAS, http://www.pnas.org/cgi/doi/10.1073/pnas.1620971114

Nasal drops of harmless bacteria can inhibit a related bug that sometimes causes meningococcal disease, according to new findings published online in Clinical Infectious Diseases. The studyconducted among college students, ...

University of York scientists have shed new light on why teenagers and young adults are particularly susceptible to meningitis and septicaemia.

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Meningitis bacteria adapting to STI niche, genetic analysis shows - Medical Xpress

Study sheds light on dark side of tumor suppressor gene, p53 – Medical Xpress

Posted on April 4, 2017 by ev1

April 3, 2017 by Garth Sundem Tamara Terzian, Ph.D., and colleagues detail the genes that regulate p53. Credit: University of Colorado Cancer Center

The gene p53 is the most commonly mutated gene in cancer - it is p53's job to monitor cells for DNA damage and to mark damaged cells for destruction and so cancer cells with mutated DNA must disable p53 before it disables them. However, there is a second, darker side to p53. While intact or "wild type" p53 is a tumor suppressor, mutated p53 can itself become an oncogene, driving the progression of the disease. A University of Colorado Cancer Center study presented today at the American Association for Cancer Research (AACR) Annual Meeting 2017 picks apart the dark side of this gene, the mutated, oncogenic form of p53, to show that other genes, Mdm2 and now for the first time Mdm4, keep mutated p53 in check.

"Because p53 is the most frequently mutated gene in cancer, it has a tremendous impact on tumorigenesis. Anything that regulates the p53 pathway has an importance in tumor development - and potentially for therapy," says senior author Tamara Terzian, PhD, investigator at the CU Cancer Center and assistant professor at the Gates Center for Regenerative Medicine on the University of Colorado Anschutz Medical Campus.

In healthy cells, Mdm2 and Mdm4 keep p53 at low levels; studies have shown that nixing these proteins results in a spike in p53 and the destruction of the cell. Commonly, DNA damage - either oncogenic mutations or other non-cancer stressors - results in high p53 and cell death. And, also commonly, cancer evades this blockade by mutating p53, keeping its levels artificially low despite high DNA damage.

But there is another storyline to p53 and cancer. In this second story, cancer mutates p53 and uses this new form to drive its growth directly. Now cancer would like to turn up this mutated form of p53. And now doctors, instead of wishing that healthy p53 would spike in response to oncogenic DNA, wish that mutated p53 would go away.

"When you take out either of these two genes, Mdm2 or Mdm4, mutated p53 is elevated and mice die earlier of mutant-p53-driven cancers," Terzian says. However, Terzian's study also shows cooperation between 2 and 4. "When you knock down either, you boost the level of mutant p53, and when you take them both out, it kind of goes through the roof," she says.

Therapies now in clinical trials attempt to force cancer-causing mutant p53 back into the mold of cancer-killing healthy p53, for example, because many cells hold both mutant and wild type p53, "by activating the wild type or depleting the mutant or making the mutant into the wild type," Terzian says.

"We want to know both what regulates p53 and what are its target genes," Terzian says. "And in the case of mutant p53 we are not talking about a homogenous actor - we have multiple mutations and each one makes a protein of its own; each has a mind of its own. Wild type is just one form, but mutant proteins have endless possibilities. Asking questions about these possibilities expands the horizon."

The horizon is becoming clearer - wild type p53 kills cancer and mutant p53 causes cancer. Both types are suppressed by Mdm2 and Mdm4. The challenge is to manipulate these proteins or other actors in the chain of signaling that extends from these proteins, at the right time in the right patients.

"By understanding how mutant p53 proteins are regulated, we increase the likelihood of developing a successful therapeutic strategy to treat tumors," says Terzian.

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Screening genome’s ‘dark matter’ for risks – Durham Herald Sun

Posted on April 4, 2017 by ev1

Durham Herald Sun

Screening genome's 'dark matter' for risks
Durham Herald Sun
Researchers have developed a method to swiftly screen the non-coding DNA of the human genome for links to diseases that are driven by changes in gene regulation. The technique could revolutionize modern medicine's understanding of the genetically ...

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Screening genome's 'dark matter' for risks - Durham Herald Sun

Canopy acquires gene-editing technology license – St. Louis Business Journal

Posted on April 4, 2017 by ev1

St. Louis Business Journal

Canopy acquires gene-editing technology license
St. Louis Business Journal
Canopy Biosciences, a young startup looking to accelerate the commercialization of life science medical tools and services, has exclusively licensed a gene-editing technology from Washington University in St. Louis and Johns Hopkins University.

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Canopy acquires gene-editing technology license - St. Louis Business Journal

MSK Expertise on Precision Medicine Highlighted in American Association for Cancer Research Annual Meeting Press … – Memorial Sloan Kettering Cancer…

Posted on April 2, 2017 by ev1

David Hyman, MD, speaks to a patient.

Research findings from Memorial Sloan Kettering Cancer Center (MSK) will be featured in this years American Association for Cancer Research (AACR) Annual Meeting press program. The AACR is the oldest and largest professional organization dedicated to advancing cancer research, and the press program highlights cancer research that a panel of AACR experts considers the most significant of the year and deserving of media attention. Details of the presentation are as follows:

Who: David Hyman, MD, Director of Developmental Therapeutics, Memorial Sloan Kettering Cancer Center

What: Findings from the phase II SUMMIT trial, a second-generation basket trial testing the investigational pan-HER-targeted therapeutic neratinib in patients with HER2 and HER3 mutations in a variety of cancer types.

When: Press conference scheduled for April 2, 11:00 am.

Presentation will follow the press conference as part of the Clinical Trials Plenary Session, beginning at 12:45 .

Medical oncologist David Hyman discusses how clinical trials are evolving to focus on genetic alterations.

Dr. Hyman will share findings of the phase II SUMMIT clinical trial, testing the investigational pan-HER-targeted therapeutic neratinib in patients with HER2 and HER3 mutations in a wide variety of cancer types. This trial provides the largest body of clinical data to date on the use of a pan-HER inhibitor in patients with solid tumors with somatic HER2/HER3 mutations. Researchers found that the likelihood that a patients cancer responded was influenced by both the cancer type and the identity of the gene mutation present in the cancer.

Dr. Hyman and colleagues at MSK pioneered the concept of the basket trial, a type of research study that concentrates on a specific mutation found in the tumor. The team published the findings from the first basket trial in the New England Journal of Medicine in 2015. The phase II SUMMIT trial builds on previous basket trials by examining, for the first time, how both different mutations within a gene as well as various cancer types each influence likelihood of response to genomically targeted therapy. Setting itself apart from the first generation of basket trials, this new trial design looks at a genomic target that is not yet credentialed, while previous trials set out to broaden the use of approved treatments for a specific mutation across a number of cancer types.

What were doing here is accelerating the process of testing drugs in people, explained Dr. Hyman. As the field of precision medicine has progressed, clinical trial designs have evolved greatly. This work shows that second-generation basket trials will serve as a valuable trial design since we now know that we must assess both cancer type and specific mutation when identifying targeted therapies. This study also demonstrates the importance of enrolling a sufficient number of patients in molecularly driven studies for which we expect significant heterogeneity of response by tumor type and mutation. If we do not ensure sufficient study size, we could easily miss potential benefit in specific tumor types of mutations and therefore the opportunity to advance the standard of care for affected patients.

At interim data cutoff, which was December 16, 2016, 141 HER2 and HER3 patients had received neratinib as part of the clinical trial. Among these were patients with 21 unique types of cancer, 30 unique HER2 gene mutations, and 12 HER3 gene mutations. The most common types of cancer were bladder, breast, colorectal, and nonsmall cell lung cancer; the most common HER2 gene mutations included S310, L755, A755_G776insYVMA, and V777. When looking at the data by cancer type, the best response rate was seen for breast cancer; biliary and cervical showed an intermediate response rate; there were no responses seen for colorectal cancer. The researchers noted that while there are areas of promise in these findings, combination therapies with pan-HER inhibitors and other treatment modalities will likely need to be explored in order to obtain practice-changing response rates and durability of response.

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MSK Expertise on Precision Medicine Highlighted in American Association for Cancer Research Annual Meeting Press ... - Memorial Sloan Kettering Cancer...

Scarborough brother and sister, aged 11 and 12, with the genetic cholesterol condition FH are helped by new clinic – Whitby Gazette

Posted on March 15, 2020 by Danzig

The clinic helps children at risk of developing heart disease in the future due to high cholesterol.

They can now attend a ground-breaking clinic run by the familial hypercholesterolemia (FH) service at York Teaching Hospital NHS Foundation Trust.

FH is an inherited condition which can lead to extremely high cholesterol levels and is passed down through families in the genes.

The FH service, led by Dr Chandrajay, Consultant in Chemical Pathology and Metabolic Medicine, and Claire Tuson, Familial Hypercholesterolaemia Specialist Nurse, has recently extended their service to include children and adolescents.

Claire explained: Research has shown that children with FH start to develop a build-up of fatty plaque in their arteries before the age of 10. Once diagnosed, FH is easy to treat so it makes sense to work with families as soon as possible.

Last year, with the support of Consultant Paediatrician Dr Dominic Smith, we extended gene testing to all children aged 10 years old and over, who have a parent affected with FH. Testing children for FH could prevent a potentially fatal heart attack or stroke.

The first six children from York and Scarborough that were identified with FH have recently attended our new Yorkshire and Humber joint paediatric clinic for children and their families, which launched at the end of January.

FH is estimated to affect 1 in 250 people in the UK, including over 56,000 children.

It is an inherited disorder of cholesterol and lipid metabolism, caused by an alteration in a single gene where people have higher levels of bad cholesterol levels from birth. If left undetected and untreated FH can lead to the early development of heart and circulatory problems.

Kiera Pickering, aged 12, and her brother Connor, aged 11, from Scarborough, were two of the first children to attend the clinic.

Claire added: Its a real breakthrough to be able to identify and treat children with FH so early. Alongside dietary and lifestyle advice to maintain a healthy body weight, children can be considered for statin therapy from as young as 10 years old.

"Statin treatment can not only prevent, but potentially reverse, the build-up of cholesterol and allow children and young people to live a perfectly healthy life.

Despite the availability of genetic testing, more than 85 percent of people with FH in the UK are undiagnosed.

The British Heart Foundation estimates that currently only around 600 children in the UK have been diagnosed with FH, meaning that thousands more are not on treatment and remain unaware of their future risk of heart disease.

For more information about the FH clinics contact claire.tuson@york.nhs.uk

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Scarborough brother and sister, aged 11 and 12, with the genetic cholesterol condition FH are helped by new clinic - Whitby Gazette

Amicus Therapeutics Announces Full-Year 2019 Financial Results and 2020 Corporate Updates – BioSpace

Posted on March 2, 2020 by Danzig

CRANBURY, N.J., March 02, 2020 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq: FOLD), a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel medicines for rare diseases, today announced financial results for the full-year ended December 31, 2019. The Company also summarized recent program updates and reiterated its full-year 2020 guidance.

Corporate Highlights for Full-Year 2019 and Year-to-Date 2020

2020 Key Strategic Priorities

John F. Crowley, Chairman and Chief Executive Officer of Amicus Therapeutics, Inc. stated, Amicus has made great strides in our continued evolution as a leading global rare disease biotechnology company. We are on track and well-capitalized to achieve all our 2020 key strategic priorities including our global Fabry launch, Pompe late-stage development program, and gene therapy pipeline. With a very successful, commercial product in Fabry disease, a late stage program with Breakthrough Therapy Designation in late onset Pompe disease and 14 gene therapy programs for rare diseases in development, including two in the clinic, we are now, strongly positioned to achieve our vision of delivering groundbreaking new medicines and hopefully one day cures for people living with rare metabolic diseases.

Full-Year 2019 Financial Results

2020 Financial Guidance

Anticipated 2020 Milestones by Program

Amicus previously announced 2020 program milestones in early January 2020. All anticipated milestones remain on track as follows:

Galafold (migalastat) Oral Precision Medicine for Fabry Disease

AT-GAA for Pompe Disease

Gene Therapy Portfolio

Conference Call and WebcastAmicus Therapeutics will host a conference call and audio webcast today, March 2, 2020, at 8:30 a.m. ET to discuss the full-year 2019 financial results and corporate updates. Interested participants and investors may access the conference call by dialing 877-303-5859 (U.S./Canada) or 678-224-7784 (international), conference ID: 2782337.

A live audio webcast can also be accessed via the Investors section of the Amicus Therapeutics corporate website at http://ir.amicusrx.com/, and will be archived for 30 days. Web participants are encouraged to register on the website 15 minutes prior to the start of the call. A replay of the call will be available for seven days beginning at 11:30 a.m. ET on March 2, 2020. Access numbers for this replay are 855-859-2056 (U.S./Canada) and 404-537-3406 (international); conference ID: 2782337.

About GalafoldGalafold(migalastat) 123 mg capsules is an oral pharmacological chaperone of alpha-Galactosidase A (alpha-Gal A) for the treatment of Fabry disease in adults who have amenableGLAvariants. In these patients, Galafold works by stabilizing the bodys own dysfunctional enzyme so that it can clear the accumulation of disease substrate. Globally, Amicus Therapeutics estimates that approximately 35 to 50 percent of Fabry patients may have amenableGLAvariants, though amenability rates within this range vary by geography. Galafold is approved in over 40 countries around the world, including the U.S., EU, U.K, Japan and others.

U.S. Indications and UsageGalafold is indicated for the treatment of adults with a confirmed diagnosis of Fabry disease and an amenable galactosidase alpha gene (GLA) variant based oninvitroassay data.

This indication is approved under accelerated approval based on reduction in kidney interstitial capillary cell globotriaosylceramide (KIC GL-3) substrate. Continued approval for this indication may be contingent upon verification and description of clinical benefit in confirmatory trials.

U.S. Important Safety Information

Adverse ReactionsThe most common adverse reactions reported with Galafold (10%) were headache, nasopharyngitis, urinary tract infection, nausea and pyrexia.

Use in Specific PopulationsThere is insufficient clinical data on Galafold use in pregnant women to inform a drug-associated risk for major birth defects and miscarriage. Advise women of the potential risk to a fetus.

It is not known if Galafold is present in human milk. Therefore, the developmental and health benefits of breastfeeding should be considered along with the mothers clinical need for Galafold and any potential adverse effects on the breastfed child from Galafold or from the underlying maternal condition.

Galafold is not recommended for use in patients with severe renal impairment or end-stage renal disease requiring dialysis.

The safety and effectiveness of Galafold have not been established in pediatric patients.

To report Suspected Adverse Reactions, contact Amicus Therapeutics at 1-877-4AMICUS or FDA at1-800-FDA-1088 orwww.fda.gov/medwatch.

For additional information about Galafold, including the full U.S. Prescribing Information, please visithttps://www.amicusrx.com/pi/Galafold.pdf.

E.U. and U.K. Important Safety InformationTreatment with Galafold should be initiated and supervised by specialists experienced in the diagnosis and treatment of Fabry disease. Galafold is not recommended for use in patients with a nonamenable mutation.

For further important safety information for Galafold, including posology and method of administration, special warnings, drug interactions and adverse drug reactions, please see the European SmPC for Galafold available from the EMA website at http://www.ema.europa.eu.

About Amicus Therapeutics Amicus Therapeutics (Nasdaq: FOLD) is a global, patient-dedicated biotechnology company focused on discovering, developing and delivering novel high-quality medicines for people living with rare metabolic diseases. With extraordinary patient focus, Amicus Therapeutics is committed to advancing and expanding a robust pipeline of cutting-edge, first- or best-in-class medicines for rare metabolic diseases. For more information please visit the companys website at http://www.amicusrx.com, and follow on Twitter and LinkedIn.

Non-GAAP Financial Measures In addition to financial information prepared in accordance with U.S. GAAP, this press release also contains adjusted financial measures that we believe provide investors and management with supplemental information relating to operating performance and trends that facilitate comparisons between periods and with respect to projected information. These adjusted financial measures are non-GAAP measures and should be considered in addition to, but not as a substitute for, the information prepared in accordance with U.S. GAAP. We typically exclude certain GAAP items that management does not believe affect our basic operations and that do not meet the GAAP definition of unusual or non-recurring items. Other companies may define these measures in different ways. Full reconciliations of GAAP results to the comparable non-GAAP measures for the reported periods appear in the financial tables section of this press release. When we provide our expectation for non-GAAP operating expenses on a forward-looking basis, a reconciliation of the differences between the non-GAAP expectation and the corresponding GAAP measure generally is not available without unreasonable effort due to potentially high variability, complexity and low visibility as to the items that would be excluded from the GAAP measure in the relevant future period, such as unusual gains or losses. The variability of the excluded items may have a significant, and potentially unpredictable, impact on our future GAAP results.

Forward-Looking StatementsThis press release contains "forward-looking statements" within the meaning of the Private Securities Litigation Reform Act of 1995 relating to preclinical and clinical development of our product candidates, the timing and reporting of results from preclinical studies and clinical trials, the prospects and timing of the potential regulatory approval of our product candidates, commercialization plans, manufacturing and supply plans, financing plans, and the projected revenues and cash position for the Company. The inclusion of forward-looking statements should not be regarded as a representation by us that any of our plans will be achieved. Any or all of the forward-looking statements in this press release may turn out to be wrong and can be affected by inaccurate assumptions we might make or by known or unknown risks and uncertainties. For example, with respect to statements regarding the goals, progress, timing, and outcomes of discussions with regulatory authorities, and in particular the potential goals, progress, timing, and results of preclinical studies and clinical trials, actual results may differ materially from those set forth in this release due to the risks and uncertainties inherent in our business, including, without limitation: the potential that results of clinical or preclinical studies indicate that the product candidates are unsafe or ineffective; the potential that it may be difficult to enroll patients in our clinical trials; the potential that regulatory authorities, including the FDA, EMA, and PMDA, may not grant or may delay approval for our product candidates; the potential that we may not be successful in commercializing Galafold in Europe, Japan, the US and other geographies or our other product candidates if and when approved; the potential that preclinical and clinical studies could be delayed because we identify serious side effects or other safety issues; the potential that we may not be able to manufacture or supply sufficient clinical or commercial products; and the potential that we will need additional funding to complete all of our studies and manufacturing. Further, the results of earlier preclinical studies and/or clinical trials may not be predictive of future results. With respect to statements regarding projections of the Company's revenue and cash position, actual results may differ based on market factors and the Company's ability to execute its operational and budget plans. In addition, all forward-looking statements are subject to other risks detailed in our Annual Report on Form 10-K for the year ended December 31, 2019 to be filed today. You are cautioned not to place undue reliance on these forward-looking statements, which speak only as of the date hereof. All forward-looking statements are qualified in their entirety by this cautionary statement, and we undertake no obligation to revise or update this news release to reflect events or circumstances after the date hereof.

CONTACTS:

Investors:Andrew FaughnanDirector, Investor Relationsafaughnan@amicusrx.com(609) 662-3809

Media:Christopher ByrneExecutive Director, Corporate Communicationscbyrne@amicusrx.com(609) 662-2798

FOLDG

TABLE 1

Amicus Therapeutics,Inc.Consolidated Statements of Operations(in thousands, except share and per share amounts)

TABLE 2

Amicus Therapeutics,Inc.Consolidated Balance Sheets(in thousands, except share and per share amounts)

TABLE 3

Amicus Therapeutics,Inc.Reconciliation of Non-GAAP Financial Measures(in thousands)

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Amicus Therapeutics Announces Full-Year 2019 Financial Results and 2020 Corporate Updates - BioSpace

Research Roundup: Battery car testing, African killifish embryos and ocean organism extinctions – The Stanford Daily

Posted on February 25, 2020 by Danzig

Each week, The Dailys Science & Tech section produces a roundup of the most exciting and influential research happening on campus or otherwise related to Stanford. Heres our digest for the week of Feb. 16 Feb. 22.

Artificial intelligence decreases testing time for car batteries

An artificial intelligence (AI)-based method has decreased electric vehicle (EV) battery testing time from around two years to 16 days, a 98% reduction, according to a study published on Feb. 19 in Nature.

In battery testing, you have to try a massive number of things, because the performance you get will vary drastically, computer science assistant professor Stefano Ermon told Stanford News. With AI, were able to quickly identify the most promising approaches and cut out a lot of unnecessary experiments.

The researchers focused on finding the charging method for an EV battery that maximizes the batterys lifetime. The AI program efficiently tested battery protocols to figure out the best optimal protocols for charging.

It gave us this surprisingly simple charging protocol something we didnt expect, Ermon told Stanford News. Thats the difference between a human and a machine: The machine is not biased by human intuition, which is powerful but sometimes misleading.

Increased gene activity associated with fish embryo diapause

An increase in the activity of a specific gene has been identified in African killifish embryos that undergo a hibernation-like state, called diapause, during early development, found a study published on Feb. 21 in Science.

African killifish enter diapause to avoid the harsh conditions during the dry season, and exit diapause when conditions are optimal for development.

Diapause lasts around five months, about the same as an average African killifish lifespan, genetics professor Anne Brunet told Stanford Medicine News. But some killifish have stayed in diapause for 2.5 years. If you think about that in human terms, thats like if we were to exist, paused as an embryo, for some 400 years, only to resume natural development and live out a full life.

The findings suggested that during the diapause period, activity of the CBX7 gene increases. The gene is associated with regulating muscle maintenance, and African killifish embryos lacking CBX7 display muscle atrophy, which leads to exiting diapause too early.

As time passes, our organs progressively degenerate, especially in disease, Brunet told Stanford Medicine News. So identifying the general, fundamental mechanisms of organ preservation could be important to understanding how to counter the normal atrophy of organs over time or under disease conditions.

Extinctions of smaller ocean creatures throughout the past 485 million years

A fossil study indicated that the extinctions of smaller ocean organisms were more common than previously thought, according to a report published on Jan. 30 in Paleobiology.

Our findings suggest that the controls on extinction risk for marine animals across evolutionary time were quite different from those that are operating in the current extinction crisis, but were consistent across time and distantly related groups of animals, geological sciences Jonathan Payne told Stanford Earth News.

The researchers analyzed fossils related to the bivalve group Pectinida. The findings suggest that bivalve-related organisms, pancake-thin and smaller than a human palm, went extinct disproportionately more often than larger species. Larger bivalve-related organisms were more likely to survive.

The fossil record is our only archive of past extinction events, Payne told Stanford Earth News. This finding adds substantial urgency to our efforts to conserve species and ecosystems before extinction occurs.

Contact Derek Chen at derekc8 at stanford.edu.

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Research Roundup: Battery car testing, African killifish embryos and ocean organism extinctions - The Stanford Daily

Ahead of FDA decision on BTK drug, Amgen-partnered BeiGene is one step closer to China OK for PD-1 – Endpoints News

Posted on November 14, 2019 by Danzig

China is reportedly approving its 6th PD-1(L)1 drug in just over a year and Amgen will be pleased with this one.

The OK for tislelizumab would be the first marketed product to be developed by BeiGene, the eminent Beijing-based biotech that Amgen recently took a $2.7 billion stake in. Chinas Center for Drug Evaluation has completed technical review and sent the NDA to the National Medical Products Administration with a recommendation to approve, Chinese media outlet Jiemian reported.

BeiGene is all set to hit the ground running. Having partnered with Celgene to hawk Revlimid, Abraxane and Vidaza in China, the drugmaker has built a 700-strong commercialization team. The Amgen deal also puts them in charge of selling Xgeva (denosumab), Kyprolis (carfilzomib) and Blincyto (blinatumomab) provided the last two come through after Phase III development.

Following the initial indication of chronic Hodgkins lymphoma, BeiGene has already filed an sNDA to use tislelizumab in urothelial carcinoma.

While Celgene once held rights to the drug outside China, BeiGene regained global rights after its US partner broke off the pact in the wake of a buyout by Bristol-Myers Squibb, the maker of Opdivo.

The fast pace reflects just how rapidly the checkpoint market has evolved in China. Junshi and Innovent scored the first approvals for their homegrown therapies, Tuoyi and Tyvyt, though according to Jiemian its Mercks Keytruda that racked up the most sales: RMB$2 billion ($280 million) since last July. The numbers for Junshis Tuoyi and Innovents Tyvyt are RMB$332 million ($47 million) and RMB$308 million ($43 million), respectively.

Given that competitive some would say commoditized landscape, BeiGene is looking to make a name for itself through zanubrutinib, a BTK inhibitor positioned to challenge the dominance of Imbruvica. The drug is under review at the FDA after nabbing breakthrough status.

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Ahead of FDA decision on BTK drug, Amgen-partnered BeiGene is one step closer to China OK for PD-1 - Endpoints News

Researches at UCSD Health Sciences identify gene with functional role in aging of eye – A lengthy-named gene called Elongation of Very Long Chain…

Posted on February 4, 2020 by Danzig

Researches at UCSD Health Sciences identify gene with functional role in aging of eye

San Diego Community News Group

A lengthy-named gene called Elongation of Very Long Chain Fatty Acids Protein 2 or ELOVL2 is an established biomarker of age. In a new paper, published online Jan. 14, 2020 in the journal Aging Cell, researchers at the University of California San Diego School of Medicine say the gene appears to play a key role in age-associated functional and anatomical agingin vivoin mouse retinas, a finding that has direct relevance to age-related eye diseases.

Specifically, the research team, led by senior author Dorota Skowronska-Krawczyk, Ph.D., assistant professor in the Viterbi Family Department of Ophthalmology at UC San Diego Shiley Eye Institute, found that an age-related decrease in ELOVL2 gene expression was associated with increased DNA methylation of its promoter. Methylation is a simple biochemical process in which groups of carbon and hydrogen atoms are transferred from one substance to another. In the case of DNA, methylation of regulatory regions negatively impacts the expression of the gene.

When researchers reversed hypermethylationin vivo, they boosted EVOVL2 expression and rescued age-related decline in visual function in mice. These findings indicate that ELOVL2 actively regulates aging in mouse retina, provides a molecular link between polyunsaturated fatty acids elongation and visual functions, and suggests novel therapeutic strategies for treatment of age-related eye diseases, wrote the authors.

ELOVL2 is involved in production of long-chain omega-3 and omega-6 polyunsaturated fatty acids, which are used in several crucial biological functions, such as energy production, inflammation response and maintenance of cell membrane integrity. The gene is found in humans as well as mice.

In particular, ELOVL2 regulates levels of docosahexaenoic acid or DHA, a polyunsaturated omega-3 fatty acid abundantly found in the brain and retina. DHA is associated with a number of beneficial effects. Notably, its presence in photoreceptors in eyes promotes healthy retinal function, protects against damage from bright light or oxidative stress and has been linked to improving a variety of vision conditions, from age-related macular (AMD) degeneration to diabetic eye disease and dry eyes.

Skowronska-Krawczyk said the work demonstrated for the first time that a methylation clock gene had a functional role in the aging of an organ. In this case, the eye. DNA methylation is used throughout the human body, essentially turning biological switches on and off to maximize efficient operation. It has key regulatory roles in the bodys cardiovascular, neurological, reproductive and detoxification systems.

In recent years, there has been much work and progress in identifying possible biomarkers that predict the biological age (not chronological) of individuals. Such biomarkers would be useful in identifying risk and status of age-related diseases. ELOVL2 is among the genes attracting greatest interest.

I have been asked whether I think ELOVL2 istheaging gene, said Skowronska-Krawczyk. After thinking about it, it is not unreasonable to think that lower ELOVL2 expression might be at the basis for many age-related conditions. Future work in our lab will address that question.

For the full study, visithttps://onlinelibrary.wiley.com/doi/full/10.1111/acel.13100

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Researches at UCSD Health Sciences identify gene with functional role in aging of eye - A lengthy-named gene called Elongation of Very Long Chain...

This New Devices Rapid Pathogen Identification May Be Our Next Big Medical Breakthrough – Forbes

Posted on December 10, 2019 by Danzig

LexaGene's LX2 Genetic Analyzer

The U.S. is just finishing up an autumn full of scares around the country over the mosquito-borne EEE virus. During the Thanksgiving holiday, we had yet another large-scale lettuce recall. Now flu season is coming into full swing. So our concerns about pathogens disease-causing organisms are spiking right now.

What if we had a piece of technology that could quickly detect and identify those nasty little creatures that cause so much heartache, illness and death, allowing fast diagnoses for illness prevention and treatment? LexaGene, a start-up in Beverly, Massachusetts, may have just that.

The company was founded in 2016 and is publicly traded on the TSX Venture Exchange (TSX.V:LXG) and over the counter in the US (OTCQB:LXXGF). In a post-IPO capital round in October, LexaGene raised $5 million. Their parent company, LexaGene Holdings, Inc., has a market capitalization of over $35 million. The company is on the cusp of the commercial launch of its technology.

Dr. Jack Regan

First and foremost, its important to identify the problem, said Dr. Jack Regan, LexaGenes founder and CEO. Current diagnostics are failing us. We shouldnt be getting treatment based on the guess of a physician. Thats no knock on our doctors, who are doing the best with what they have. The problem is that todays state of the art diagnostic methods are too slow. Current testing involves culturing samples to allow any microorganisms to grow to a quantity large enough to analyze. This can take days to deliver results, and can often still be inexact.

LexaGene says its LX2 Genetic Analyzer is the answer. It delivers exact results in about an hour. What makes us so fast versus culturing? We directly amplify the genetic material, explained Regan. The instrument amplifies bacterial genetic targets roughly one trillion-fold for easy optical detection. Our technology allows for gold standard testing in both performance and speed. The technology arose out of work Regan did previously at Lawrence Livermore National Laboratory. Its the next generation instrument of what I worked on there, he said. The government used it for bio-threat detection anthrax, plague, and smallpox, for example. In contrast, our instrument can be used across many applications, including clinical diagnostics, food safety, and pandemic prevention. The technology automates a very powerful detection chemistry, making complex testing easy.You essentially load a sample with a cartridge, enter a sample ID, and press Go.

Of those multiple applications of the technology, the most obvious is disease detection. We enable rapid diagnostics, giving physicians the ability to determine the best way to treat their patients, Regan said. That allows for immediate treatment of the known illness.

It can help with current antibiotic challenges. The CDC [U.S. Centers for Disease Control and Prevention] sees antibiotic resistance as one of the biggest health challenges of our time, Regan said. Better diagnoses will eliminate antibiotic overuse. Right now physicians prophylactically prescribe antibiotics, not knowing whether the symptoms are due to an infection or other medical concern, or whether any prescribed drugs are going to be effective.As a result, patients can spend days on an ineffective antibiotic. If the doctor can quickly detect whether an infection is present and whether drug-resistance factors are present, he or she can prescribe the correct treatment right away. This offers a better avenue to antibiotic stewardship.

Preventing a pandemic of any kind is another opportunity. Our technology is perfectly suited to this, said Regan. We can configure it for rapid detection of different strains. The flu is an obvious application. I did my doctoral work on influenza, he added. Its very deadly. Every year about 30,000 people die, but thats a drop in the bucket compared with a pandemic, where 33 million might die in the first six months. Each years flu shot can be less than effective if it treats for strains other than the most prevalent one. LexaGene can screen for known strains, then add testing for new strains as they appear, potentially allowing for corrections to the vaccine.

Image courtesy LexaGene

With next generation sequencing, we can identify the pathogen that causes death early on, Regan said. We can then get a test out in two or three days that will provide a rapid way to triage and quarantine those affected.

Food safety is a big potential application as well. There, producers working to prevent foodborne illnesses rely on laboratory testing that can take days to deliver results. LexaGenes quick pathogen identification can help reduce the potential for contaminated products reaching consumers, and related illnesses and deaths. They can also help food processors avoid costly product recalls. (Heres one of my related articles that goes into greater detail on this.)

When it comes to a breakthrough new diagnostic device, of course, one concern is sure to pop up: how can we be confident this isnt the next Theranos? How do we set readers at ease regarding our technology? Look at the founders and the members of our Board, said Regan. Theranos had big names with no experience in diagnostics. At LexaGene, Ive focused on building our scientific integrity, with Board members who have backgrounds in diagnostics, science and industry work. Personally, I have an intensive background in this particular science from my doctoral studies, work at Lawrence Livermore, and experience in successful startups and larger life science companies. Furthermore, Ive published numerous times and have numerous issued patents. And we have outside companies already using our technology independently. In contrast, Theranos had none of that. One of the other things that frustrated me about Theranos was that their claims were so unrealistic. They said they could run 200 accurate tests from a single drop of blood, but published studies have shown that the chances of detecting a single pathogen in one drop of blood are less than 50% because bacteria dont grow to high concentrations in the blood. Theres simply no way they could do what they claimed.

Regan is focused on the positives of his technology. Weve completed numerous beta tests at potential customer locations, and which shows investors that the technology works exceptionally well and is now nearly ready for commercial sales, he said. Right now, were working on hiring a sales team and in discussions with contract manufacturers. The wheels are in motion for us to hit the ground running.Were addressing a desperate need, he added. Were perfectly poised to make the transition into sales in mid-2020 and we look forward to sharing stories of our technology saving lives. Its not that far away.

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This New Devices Rapid Pathogen Identification May Be Our Next Big Medical Breakthrough - Forbes

Stanford Center Hopes to Take Stem Cell and Gene Therapies to a New Level – Sickle Cell Anemia News

Posted on August 25, 2017 by Danzig

The new Stanford Center for Definitive and Curative Medicine will fosterthe development ofstem cell and gene therapies for genetic diseases, including sickle cell anemia.

More than280 million people around the world have diseases with genetic causes, experts estimate. While research has identified the underlying causes of several, scientists have developed few therapies that can address the causes or cure the diseases.

Treatments have been developed thatsignificantly improve patients health, however. They include public health initiatives, targeted therapies and surgery.

Scientists believe stem cell and gene therapy can cure some genetic diseases. They would likely do this either by rewiring cells to fight a disease more efficiently or by correcting a genetic errorin a patients DNA.

Stanford not only does excellent research in disease mechanisms, cell and stem cell biology, but also promotes collaboration between its medical schools and hospitals.

The initiative is a joint venture of theStanford University School of Medicine,Stanford Health CareandStanford Childrens Health.

Dean Predicts Center Will Be Major Force in the Precision-health Revolution

The Center for Definitive and Curative Medicine is going to be a major force in theprecision-health revolution, Dr. Lloyd Minor, dean of the School of Medicine, said in a press release. Our hope is that stem cell and gene-based therapeutics will enable Stanford Medicine to not just manage illness but cure it decisively and keep people healthy over a lifetime.

We are entering a new era in medicine, one in which we will put healthy genes into stem cells and transplant them into patients,said Christopher Dawes, the president and CEO of Stanford Childrens Health. And with the Stanford Center for Definitive and Curative Medicine, we will be able to bring these therapies to patients more quickly than ever before.

The work of the center is not being done anywhere else in the country only at Stanford, said David Entwistle, president and CEO of Stanford Health Care. We have a pipeline of clinical translational therapies that the center is now driving forward, enabling us to translate basic science discoveries into state-of-the-art therapies for diseases which up until now have been considered incurable.

Dr. Maria Grazia Roncarolo will direct the center,which will be in the Department of Pediatrics.The renowned medical doctor and scientist is the George D. Smith Professor of Stem Cell and Regenerative Medicine.

It is a privilege to lead the center and to leverage my previous experience to build Stanfords preeminence in stem cell and gene therapies, said Roncarolo, who is also chief of pediatric stem cell transplantation and regenerative medicine, co-director of theBass Center for Childhood Cancer and Blood Diseases,and co-director of theStanford Institute for Stem Cell Biology and Regenerative Medicine.

Main Mission Will Be to Turn Scientific Discoveries Into Treatments

Stanford Medicines unique environment brings together scientific discovery, translational medicine and clinical treatment, Roncarolo added. We will accelerate Stanfords fundamental discoveries toward novel stem cell and gene therapies to transform the field and to bring cures to hundreds of diseases affecting millions of children worldwide.

The centers main mission will be to turn scientific discoveries into treatments. A world-classinterdisciplinary team of scientists should help it deliver on that promise.

Leaders of the team will include Dr. Matthew Porteus, an associate professor of pediatrics, and Dr. Anthony Oro, the Eugene and Gloria Bauer Professor of dermatology. Dr. Sandeep Soni will direct the centers stem cell clinical trial office.

The center will provide novel therapies that can prevent irreversible damage in children, and allow them to live normal, healthy lives, said Dr. Mary Leonard, chair of pediatrics at Stanford Childrens Health. The stem cell and gene therapy efforts within the center are aligned with the strategic vision of the Department of Pediatrics and Stanfordsprecision-healthvision, where we go beyond simply providing treatment for children to instead cure them definitively for their entire lives.

A unique feature of the center will be a close association with the Stanford Laboratory for Cell and Gene Medicine, which is working on new cell and gene therapies.

The lab has already developed genetically corrected bone marrow cells as a treatment for sickle cell anemia. Other genetically modified cells it has created include skin grafts for children with the genetic disease epidermolysis bullosa and lymphocytes for children with leukemia.

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Stanford Center Hopes to Take Stem Cell and Gene Therapies to a New Level - Sickle Cell Anemia News

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This New Devices Rapid Pathogen Identification May Be Our Next Big Medical Breakthrough – Forbes

Stanford Center Hopes to Take Stem Cell and Gene Therapies to a New Level – Sickle Cell Anemia News