Category Archives: Human Genetics

Researchers from Germanys Max Planck Institute of Molecular Cell Biology and Genetics in Germany and Japans Central Institute for Experimental Animals introduced a specifically human gene,ARHGAP11B, into the fetus of a common marmoset monkey, causing the enlargement of its brains neocortex. The scientistsreported their findings in Science.

The neocortex is the newest part of the brain to evolve. Its in the nameneo meaning new, and cortex meaning, well, the bark of a tree. This outer shell makes up more than 75 percent of the human brain and is responsible for many of the perks and quirks that make us uniquely human, including reasoning and complex language.

The scientists call these human-monkey hybrids transgenic non-human primates, which may be enough to ring the alarm of any doomsdayer. It certainly raises a lot of ethical questions when doing experiments on primates, let alone when introducing human genes into other animals.

For this reason, the researchers limited their study to monkey fetuses, which were taken out by C-section after growing for 100 days. Allowing the experiment to go past the fetal phase and let the human gene-carrying monkeys to be born would beirresponsible and unethical, study coauthor Wieland Huttner said in the press release.

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Planet of the Apes redux? Human brain gene inserted into monkey fetuses enlarged their brains, raising ethical concerns - Genetic Literacy Project

Results presented at Foundation for Angelman Syndrome Therapeutics (FAST) Global Summit

Additional data, including EEG findings, support prior initial indications of activity and there were no new adverse events

SARASOTA, Fla. and NOVATO, Calif., Dec. 05, 2020 (GLOBE NEWSWIRE) -- GeneTx Biotherapeutics LLC and Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE), companies partnered in the development of intrathecally administered GTX-102, an investigational treatment for Angelman syndrome, today announced the presentation of data from the Phase 1/2 study of GTX-102 at the Foundation for Angelman Syndrome Therapeutics (FAST) Global Summit. Details regarding the scientific basis for GTX-102 targeting in Angelman syndrome were presented along with additional supportive clinical data on EEG and other endpoints, along with further description of the safety events. Additional nonclinical study data were included showing substantial silencing activity at low repeat doses along with chronic nonclinical safety data at higher doses compared to dosing in the human study. Presentations were made by Scott Stromatt, M.D., Chief Medical Officer of GeneTx and Elizabeth M. Berry-Kravis, M.D., Ph.D. Professor of Pediatrics, Neurological Sciences and Biochemistry at Rush University on Friday December 4th, and by Emil D. Kakkis, M.D., Ph.D., Chief Executive Officer and President of Ultragenyx, on Saturday, December 5th.

I am excited by the preliminary findings presented at the FAST scientific symposium. A tremendous amount of work was put into understanding the UBE3A-AS transcript and developing GTX-102, so it is great to see how those efforts have translated into initial indications of effect in the clinical study in patients with Angelman syndrome, said Scott V. Dindot, Ph.D., Associate Professor, Texas A&M University, and Executive Director, Molecular Genetics at Ultragenyx. I am grateful to be a part of this endeavor, and I look forward to seeing what the future holds for the Angelman syndrome community.

GTX-102 demonstrates a paternal UBE3A gene targeting strategy can result in substantial clinical activity and in a more rapid time frame than we expected, stated Dr. Scott Stromatt. We better understand the serious adverse events reported with GTX-102 at higher doses and we see a way forward to redose patients and to enroll new patients into the clinical trial. We are working with FDA to reach agreement on a modified trial design.

Study Design and Dosing

Five patients in three dose cohorts were enrolled who all had deletions in the UBE3A locus as the cause of Angelman syndrome and were treated with a monthly intrathecal dose of GTX-102 that increased for each of the first four doses provided to each patient. Two patients in cohort 1 received a monthly ascending dose sequence of 3.3 mg, 10 mg, 20 mg, and 36 mg, with the first patient receiving one additional fifth dose in an extension amendment at the 36 mg level. Two patients in cohort 2 received three sequential monthly doses of 10 mg, 20 mg, and 36 mg. One patient in cohort 3 received a single dose of 20 mg. Further dosing was stopped once the first serious adverse event occurred, as previously described.

Pharmacokinetic results indicate that plasma levels of GTX-102 were dose proportional. GTX-102 was not detectable in the blood or cerebrospinal fluid (CSF) in samples taken one month after the last dose and prior to subsequent monthly doses, indicating that the drug did not accumulate in the blood or CSF.

Interim Efficacy Results

Previously disclosed improvements in the Clinical Global Impression of Improvement Scale for Angelman Syndrome (CGI-I-AS) were presented along with detailed individual results for both global scores and individual domains. The mean change was +2.4 in the CGI-I-AS global score and all patients had at least 3 domains of improvement and 2 domains of much improved or very much improved at this interim assessment.

CommunicationCommunication was one of the most impaired functions in these five patients based on baseline scores and is the most important disease domain for families according to a recently published disease concept model1. Detailed scores from the communication domain of the CGI-I-AS showed much improved or very much improved scores in four of five subjects along with supportive detailed data from other scores. In the Bayley Scales of Infant and Toddler Development (Bayley-4), multiple patients improved on receptive or expressive communication sub-scales. In the Observed Reported Communication Ability (ORCA) measure of expressive, receptive, and pragmatic communication, three patients, ages 5, 10, and 15, demonstrated clinically relevant increases at day 128 and two patients did not have notable changes.

EEG and SeizuresAt baseline, all patients had stable seizure control per protocol requirements and did not have reports of seizures as adverse events during the study. Blinded independent central electroencephalogram (EEG) readings were conducted at baseline and day 128 (day 86 for patient 5) for four of five treated patients to assess delta waves and epileptiform discharges among other findings common in Angelman syndrome. Qualitative readings of the EEGs indicate decreases in the prevalence of notched delta waves in three of the four evaluated patients with patient 1 showing minimal change or a slight increase. Decreases in the prevalence of epileptiform discharges were also observed in three of the four evaluated patients with patient 5 showing minimal change or a slight increase. Quantitative analysis of the EEGs completed to date in the first two patients showed decreases in relative delta power (2-4 Hz) in both evaluated patients after beginning GTX-102. These are preliminary findings and, due to normal variability in EEG tracings, the assessments will be repeated after longer-term treatment with GTX-102.

Gross Motor and Fine MotorPreliminary readings from the ActiMyo device that measures hourly distance walked, stride length, and stride speed, support the utility of this functional measure. One patient, who initially had a decrease in distance walked due to the lower extremity weakness SAE, later was able to exhibit a meaningful increase from baseline as the SAE resolved. Other improvements in fine motor function previously disclosed were presented.

Length of EffectThe clinical changes observed appear to last at least 3 to 5 months from the last dose. To date, most of the subjects have retained many caregiver-reported clinical changes observed but some patients are observed to be experiencing some loss of effect. The long period of observed clinical response post-dose would support use of a maintenance dosing regimen of every 3 months, if an appropriate and safe dosing regimen is identified.

Additional Interim Safety Results

As previously reported, all patients had a grade 1 or 2 serious adverse event (SAE) of lower extremity weakness associated with local inflammation in the region of intrathecal administration in the lower back at the higher doses of GTX-102. The SAE has fully resolved in all five patients.

The SAE occurred between 6 and 30 days after the last infusion of 36 mg in four patients and 20 mg in one patient. In patient 1, the SAE was not observed until after the second dose at the 36 mg level. Clinical improvements observed in the study have been sustained beyond resolution of the SAE and the negative impact of the SAE on gross motor function in certain patients has recovered with resolution of the SAE.

No new adverse events have been reported since the last update. No patients have withdrawn from the study.

Additional Nonclinical Data

Results from additional non-human primate (NHP) studies were also reported including both single dose and repeat dose studies conducted for as long as six months. Toxicology assessments indicated acute clinical observations including sporadic transient lower limb weakness generally resolving by 24 hours after dosing. There was no observation throughout these studies of delayed-onset weakness similar to the human study SAE, which included single doses as high as 10 mg (equivalent to a dose in humans of approximately 110 mg) or at repeat monthly doses as high as 5 mg (human equivalent of approximately 56 mg per dose). No kidney or platelet toxicities were observed in the NHP studies.

The NHP studies also assessed knockdown of the UBE3A-antisense (UBE3A-AS) transcript, the RNA that inhibits expression of the paternal UBE3A allele in Angelman syndrome. Monthly dosing of GTX-102 showed substantial reduction of the UBE3A-AS transcript at monthly doses of 1, 2, and 3 mg. UBE3A-AS reduction occurred in multiple brain regions relevant to Angelman syndrome.

Scientific Detail on GTX-102 Targeting

Detail was presented on the GTX-102 target region in the UBE3A-AS transcript. Dr. Dindots work on understanding the molecular genetics of the antisense transcripts allowed the discovery of a more potent place to target an antisense oligonucleotide (ASO) for the knockdown of the repressive antisense RNA transcripts to induce more UBE3A expression. The manuscript describing the work performed by Dr. Dindots laboratory is currently under review.

Update on Clinical Study Next Steps

The companies will propose a plan to the FDA to resume enrollment and dosing in the study which is currently on hold. The proposed plan is to amend the dosing and titration regimen to start at a low dose and titrate individually, based on patient age and response to GTX-102. The maximum dose will be below 20 mg, which is the lowest dose at which the lower extremity weakness SAE was observed. Also, a new administration procedure will be used to minimize duration of exposure at the injection site. The companies aim to resume enrollment as soon as possible following receipt of guidance and approval from the FDA.

1: Willgoss, T.et al.Measuring What Matters to Individuals with Angelman Syndrome and Their Families: Development of a Patient-Centered Disease Concept Model.Child Psychiatry Hum Dev(2020). https://doi.org/10.1007/s10578-020-01051-z

About Angelman Syndrome

Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene. The maternal-specific inheritance pattern of Angelman syndrome is due to genomic imprinting of UBE3A in neurons of the central nervous system, a naturally occurring phenomenon in which the maternal UBE3A allele is expressed and the paternal UBE3A is not. Silencing of the paternal UBE3A allele is regulated by the UBE3A antisense transcript (UBE3A-AS), the intended target of GTX-102. In almost all cases of Angelman syndrome, the maternal UBE3A allele is either missing or mutated, resulting in limited to no protein expression. This condition is typically not inherited but instead occurs spontaneously. It is estimated to affect 1 in 12,000 to 1 in 20,000 people globally.

Individuals with Angelman syndrome have developmental delay, balance issues, motor impairment, and debilitating seizures. Some individuals with Angelman syndrome are unable to walk and most do not speak. Anxiety and disturbed sleep can be serious challenges in individuals with Angelman syndrome. While individuals with Angelman syndrome have a normal lifespan, they require continuous care and are unable to live independently. Angelman syndrome is not a degenerative disorder, but the loss of the UBE3A protein expression in neurons results in abnormal communications between neurons. Angelman syndrome is often misdiagnosed as autism or cerebral palsy. There are no currently approved therapies for Angelman syndrome; however, several symptoms of this disorder can be reversed in adult animal models of Angelman syndrome suggesting that improvement of symptoms can potentially be achieved at any age.

About GTX-102

GTX-102 is an investigational antisense oligonucleotide designed to target and inhibit expression of UBE3A-AS. Nonclinical studies show that GTX-102 reduces the levels of UBE3A-AS and reactivates expression of the paternal UBE3A allele in neurons of the CNS. Reactivation of paternal UBE3A expression in animal models of Angelman syndrome has been associated with improvements in some of the neurological symptoms associated with the condition. GTX-102 has been granted Orphan Drug Designation, Rare Pediatric Disease Designation, and Fast Track Designation from the U.S. Food and Drug Administration (FDA). In August 2019, GeneTx and Ultragenyx announced a partnership to develop GTX-102, with Ultragenyx receiving an exclusive option to acquire GeneTx.

About GeneTx Biotherapeutics

GeneTx Biotherapeutics LLC is a startup biotechnology company singularly focused on developing and commercializing a safe and effective antisense therapeutic for the treatment of Angelman syndrome. GeneTx was launched by FAST, a patient advocacy organization and the largest non-governmental funder of Angelman syndrome research. GeneTx licensed the rights to antisense technology intellectual property from the Texas A&M University System in December 2017.

About Ultragenyx

Ultragenyx is a biopharmaceutical company committed to bringing novel products to patients for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are typically no approved therapies treating the underlying disease.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyxs strategy is predicated upon time- and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the companys website at http://www.ultragenyx.com.

Forward-Looking Statements

Except for the historical information contained herein, the matters set forth in this press release, including statements related to Ultragenyx's expectations and projections regarding its business plans and objectives for GTX-102, the therapeutic potential and clinical benefits of GTX-102, expectations regarding the safety and tolerability of GTX-102, and future clinical developments for GTX-102 are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements involve substantial risks and uncertainties that could cause our clinical development programs, collaboration with third parties, future results, performance or achievements to differ significantly from those expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the Companys ability to successfully develop GTX-102 at lower doses, including the resolution of adverse events that were seen at higher doses, whether lower doses of GTX-102 are sufficiently effective to support the continued development of the program, the effects from the COVID-19 pandemic on the companys commercialization activities, business and operating results, smaller than anticipated market opportunities for the companys products and product candidates, manufacturing risks, competition from other therapies or products, uncertainties related to insurance coverage and reimbursement status of the companys newly approved products, the companys evolving integrated commercial organization, and other matters that could affect sufficiency of existing cash, cash equivalents and short-term investments to fund operations, the companys future operating results and financial performance, the timing of clinical trial activities and reporting results from same, and the availability or commercial potential of Ultragenyxs products and drug candidates. Ultragenyx undertakes no obligation to update or revise any forward-looking statements. For a further description of the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to the business of Ultragenyx in general, see Ultragenyx's Quarterly Report on Form 10-Q filed with theSecurities and Exchange CommissiononOctober 27, 2020, and its subsequent periodic reports filed with theSecurities and Exchange Commission.

ContactsUltragenyx Pharmaceutical Inc.Investors & MediaJoshua Higa415-660-0951

GeneTxPaula Evans630-639-7271Paula.Evans@GeneTxBio.com

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GeneTx and Ultragenyx Announce Presentation of Phase 1/2 Data on Investigational GTX-102 in Patients with Angelman Syndrome - GlobeNewswire

A study presented at the American Society of Human Genetics 2020 Virtual Meeting provided estimates of prevalence and breast cancer risks associated with pathogenic variants (PVs) in known breast cancer predisposition genes for the US population in women over the age of 65.1

Women with onset of breast cancer over age 65 typically do not qualify for genetic testing, however this study demonstrated that frequency of PVs and risk of breast cancer is not negligible in this patient population.

The median age of diagnosis for BC is 62 years, yet little is known about the frequency of pathogenic variants (PVs) in BC cancer predisposition genes in women over the age of 65, who represent a large percentage of women with BC, but often do not qualify for genetic testing, the investigators wrote in an abstract. The purpose of this study was to investigate the frequency of PVs in predisposition genes and to estimate residual risk of [breast cancer] in women over the age of 65.

In this study, research sequenced germline DNA from women over the age of 65 from population-based studies in the CARRIERS consortium to identify PVs in cancer predisposition genes using a custom multigene amplicon-based panel. In total, 26,707 women over the age of 65 were included in this study, with 13,762 (51.5%) cases and 12,945 (48.5%) controls. Notably, family history of breast cancer was present for 26% of cases and 18% of controls.

The frequency of PVs in 12 established breast cancer predisposition genes was found to be 3.18% for cases and 1.48% for controls. Genes with the highest frequencies observed includedATM(0.48%),BRCA1(0.18%),BRCA2 (0.49%),CHEK2(0.67%), andPALB2(0.23%).

This shows that a large number of women in this age category are predisposed to breast and other cancers, Nicholas Boddicker, PhD, a research associate at the Mayo Clinic, explained in a press release.2

Moreover, genes revealed to be associated with moderate risk of breast cancer included BRCA1 (OR, 3.37; 95% I, 1.68-7.51), BRCA2 (OR, 2.64; 95% CI, 1.78-4.02), PALB2 (OR, 3.09; 95% CI, 1.71-5.98), and CHEK2 (OR, 2.13; 95% CI, 1.53-3.02). However, ATM(OR, 1.38; 95% CI, 0.96-2.00) was not significantly associated with risk of breast cancer (P = .086).

Further, investigators found that the residual risk of breast cancer between the ages of 66 and 85 was 9.8% (95% CI, 6.8%-14.4%) forATM, 18.3% (95% CI, 9.5%-35.7%) forBRCA1, 18.6% (95% CI, 12.5%-28.0%) forBRCA2, 14.9% (95% CI, 10.8%-20.6%) forCHEK2, and 15.8% (95% CI, 9.0%-28.3%) forPALB2. For the general population, residual risk of breast cancer was 6.8%.

According to Boddicker, the frequency of disease-causing variants and the risks presented in this study can be used to inform cancer screening, risk management, and possibly clinical testing guidelines for women over 65.

In this study, women over 65 with no prior breast cancer found to have pathogenic variants in one of several genes would have remaining risk of breast cancer nearing 20% and could qualify for MRI surveillance in addition to mammography, he said. Without genetic testing, many of these women would not normally be screened this way.

Moving forward, the investigators indicated there are further areas which need to be explored, including combining other factors and measurements of risk with genetic testing to help better personalize risk estimates for women. In addition, more efforts to characterize these effects in other racial and ethnic groups are also still needed.

References:

1. Boddicker NJ, Hart S, Yadav S, et al. Residual breast cancer risk in genetically predisposed women diagnosed over age 65. Presented at the American Society of Human Genetics 2020 Virtual Meeting. Abstract #: 2412.

2. Breast Cancer Risk and Disease-Causing Mutations in Women Over Age 65 [news release]. Rockville, Maryland. Published October 26, 2020. Accessed November 17, 2020. https://www.ashg.org/publications-news/press-releases/breast-cancer-risk-disease-causing-mutations-women-over-age-65/

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Study Identifies Breast Cancer Risk and Disease-Causing Mutations in Women Over 65 - Cancer Network

Africa is the cradle of humankind. All humans are descendants from this common pool of ancestors. Africa and its multitude of ethnolinguistic groups are therefore fundamental to learning more about humankind and our origins.

A human genome refers to the complete set of genetic information found in a human cell. We inherit our genomes from our parents. Studying the variations in different peoples genomes gives important clues to how genetic information influences peoples appearance and health. It can also tell us about our ancestry. To date, very few African individuals have been included in studies looking at genetic variation. Studying African genomes not only fills a gap in the current understanding of human genetic variation, but also reveals new insights into the history of African populations.

My colleagues and I, who are all members of the Human Heredity and Health (H3Africa) consortium, contributed to a landmark genetics study. This study focused on 426 individuals from 13 African countries. More than 50 different ethnolinguistic groups were represented in the studyone of the most diverse groups of Africans ever to be included in such an investigation. We sequenced the whole genome of each of these individualsthis means we could read every part of the genome to look for variation.

We were able to show that Zambia was most probably an intermediate site on the likely route of migration from West Africa to east and southern Africa.

This study contributes a major, new source of African genomic data, which showcases the complex and vast diversity of African genetic variation. And it will support research for decades to come.

Our findings have broad relevance, from learning more about African history and migration, to clinical research into the impact of specific variants on health outcomes.

One of the key outcomes was the discovery of more than 3 million new genetic variants. This is significant because we are learning more about human genetic diversity in general, and discovering more differences that could be linked to disease or traits in the future.

This study also adds details to what is known about the migration and expansion of groups across the continent. We were able to show that Zambia was most probably an intermediate site on the likely route of migration from West Africa to east and south Africa. Evidence supporting movement from east Africa to central Nigeria between 1,500 and 2,000 years ago was also revealed, through the identification of a substantial amount of east African ancestry in a central Nigerian ethnolinguistic group, the Berom.

The study also enabled us to reclassify certain variants that were previously suspected to cause disease. Variants that cause serious genetic diseases are often rare in the general population, mostly because their effect is so severe that a person with such a variant often does not reach adulthood. But we observed many of these variants at quite common levels in the studied populations. One wouldnt expect that these types of disease-causing variants would be this common in healthy adults. This finding helps to reclassify these variants for clinical interpretation.

Finally, we found a surprising number of regions with signatures of natural selection that have not been previously reported. Selection means that when individuals are exposed to environmental factors like a viral infection, or a drastic new dietary component, some gene variants may confer an added adaptive advantage to the humans that bear them in their genome.

Our best interpretation of these findings is that as humans across Africa were exposed to different environmentssometimes as a result of migrationthese variants were likely important to surviving in those new conditions. This has left an imprint on the genome and contributes to genomic diversity across the continent.

Our data has shown that we have not yet found all the variation in the human genome. There is more to learn by adding new, unstudied population groups. We know that less than a quarter of participants in genomics research are of non-European ancestry. Most available genetic data come from just three countriesthe UK (40%), the US (19%) and Iceland (12%).

It is essential to keep adding more genomic data from all global populationsincluding Africa. This will ensure that everyone can benefit from the advances in health that precision medicine offers. Precision medicine refers to the customization of healthcare to fit the individual. Including personal genetic information could radically change the nature and scope of healthcare options that would work best for that individual.

The Human Heredity and Health consortium is now in its eighth year of existence, and supports more than 51 diverse projects. These include studies focusing on diseases like diabetes, HIV, and tuberculosis. The reference data generated through our study are already being put to use by many of the consortiums studies.

Next, we are planning to take an even deeper look at the data to better understand what other types of genetic variation exist. We are also hoping to add further unstudied populations to grow and enrich this data set.

Building capacity for genomics research on the African continent is a key goal of Human Heredity and Health. An important aspect of this study is that it was driven and conducted by researchers and scientists from the African continent. Researchers from 24 institutions across Africa participated and led this investigation. This study showcases the availability of both infrastructure and skills for large-scale genomics research on the continent. It also highlights the prospect of future world-class research on this topic from Africa.

Zan Lombard, Principal Medical Scientist, Associate Professor, University of the Witwatersrand

This article is republished from The Conversation under a Creative Commons license. Read the original article.

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Scientists say West Africans originally migrated to East Africa - Quartz Africa

Despite the projected growth in market applications and abundant investment capital, there is a danger that legal and ethical concerns related to genetic research could put the brakes on gene editing technologies and product programs emanating therefrom.

As society adjusts to a new world of social distance and remote everything, rapid advancements in the digital, physical, and biological spheres are accelerating fundamental changes to the way we live, work, and relate to one another. What Klaus Schwab prophesized in his 2015 book, The Fourth Industrial Revolution, is playing out before our very eyes. Quantum computing power, a network architecture that is moving function closer to the edge of our interconnected devices, bandwidth speeds of 5G and beyond, natural language processing, artificial intelligence, and machine learning are all working together to accelerate innovation in fundamental ways. Given the global pandemic, in the biological sphere, government industrial policy drives the public sector to work hand-in-glove with private industry and academia to develop new therapies and vaccines to treat and prevent COVID-19 and other lethal diseases. This post will envision the future of gene editing technologies and the legal and ethical challenges that could imperil their mission of saving lives.

There are thousands of diseases occurring in humans, animals, and plants caused by aberrant DNA sequences. Traditional small molecule and biologic therapies have only had minimal success in treating many of these diseases because they mitigate symptoms while failing to address the underlying genetic causes. While human understanding of genetic diseases has increased tremendously since the mapping of the human genome in the late 1990s, our ability to treat them effectively has been limited by our historical inability to alter genetic sequences.

The science of gene editing was born in the 1990s, as scientists developed tools such as zinc-finger nucleases (ZFNs) and TALE nucleases (TALENs) to study the genome and attempt to alter sequences that caused disease. While these systems were an essential first step to demonstrate the potential of gene editing, their development was challenging in practice due to the complexity of engineering protein-DNA interactions.

Then, in 2011, Dr. Emmanuelle Charpentier, a French professor of microbiology, genetics, and biochemistry, and Jennifer Doudna, an American professor of biochemistry, pioneered a revolutionary new gene-editing technology called CRISPR/Cas9. Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) and Cas9 stands for CRISPR-associated protein 9. In 2020, the revolutionary work of Drs. Charpentier and Doudna developing CRISPR/Cas9 were recognized with the Nobel Prize for Chemistry. The technology was also the source of a long-running and high-profile patent battle between two groups of scientsists.

CRISPR/Cas9 for gene editing came about from a naturally occurring viral defense mechanism in bacteria. The system is cheaper and easier to use than previous technologies. It delivers the Cas9 nuclease complexed with a synthetic guide RNA (gRNA) into a cell, cutting the cells genome at the desired location, allowing existing genes to be removed and new ones added to a living organisms genome. The technique is essential in biotechnology and medicine as it provides for the genomes to be edited in vivo with extremely high precision, efficiently, and with comparative ease. It can create new drugs, agricultural products, and genetically modified organisms or control pathogens and pests. More possibilities include the treatment of inherited genetic diseases and diseases arising from somatic mutations such as cancer. However, its use in human germline genetic modification is highly controversial.

The following diagram from CRISPR Therapeutics AG, a Swiss company, illustrates how it functions:

In the 1990s, nanotechnology and gene editing were necessary plot points for science fiction films. In 2020, developments like nano-sensors and CRISPR gene editing technology have moved these technologies directly into the mainstream, opening a new frontier of novel market applications. According to The Business Research Company, the global CRISPR technology market reached a value of nearly $700 million in 2019, is expected to more than double in 2020, and reach $6.7 billion by 2030. Market applications target all forms of life, from animals to plants to humans.

Gene editings primary market applications are for the treatment of genetically-defined diseases. CRISPR/Cas9 gene editing promises to enable the engineering of genomes of cell-based therapies and make them safer and available to a broader group of patients. Cell therapies have already begun to make a meaningful impact on specific diseases, and gene editing helps to accelerate that progress across diverse disease areas, including oncology and diabetes.

In the area of human therapy, millions of people worldwide suffer from genetic conditions. Gene-editing technologies like CRISPR-Cas9 have introduced a way to address the cause of debilitating illnesses like cystic fibrosis and create better interventions and therapies. They also have promising market applications for agriculture, food safety, supply, and distribution. For example, grocery retailers are even looking at how gene editing could impact the products they sell. Scientists have created gene-edited crops like non-browning mushrooms and mildew-resistant grapes experiments that are part of an effort to prevent spoilage, which could ultimately change the way food is sold.

Despite the inability to travel and conduct face-to-face meetings, attend industry conferences or conduct business other than remotely or with social distance, the investment markets for venture, growth, and private equity capital, as well as corporate R&D budgets, have remained buoyant through 2020 to date. Indeed, the third quarter of 2020 was the second strongest quarter ever for VC-backed companies, with 88 companies raising rounds worth $100 million or more according to the latest PwC/Moneytree report. Healthcare startups raised over $8 billion in the quarter in the United States alone. Gene-editing company Mammouth Biosciences raised a $45 million round of Series B capital in the second quarter of 2020. CRISPR Therapeutics AG raised more in the public markets in primary and secondary capital.

Bayer, Humboldt Fund and Leaps are co-leading a $65 million Series A round for Metagenomi, a biotech startup launched by UC Berkeley scientists. Metagenomi, which will be run by Berkeleys Brian Thomas, is developing a toolbox of CRISPR- and non-CRISPR-based gene-editing systems beyond the Cas9 protein. The goal is to apply machine learning to search through the genomes of these microorganisms, finding new nucleases that can be used in gene therapies. Other investors in the Series A include Sozo Ventures, Agent Capital, InCube Ventures and HOF Capital. Given the focus on new therapies and vaccines to treat the novel coronavirus, we expect continued wind in the sails for gene-editing companies, particularly those with strong product portfolios that leverage the technology.

Despite the projected growth in market applications and abundant investment capital, there is a danger that legal and ethical concerns related to genetic research could put the brakes on gene-editing technologies and product programs emanating therefrom. The possibility of off-target effects, lack of informed consent for germline therapy, and other ethical concerns could cause government regulators to put a stop on important research and development required to cure disease and regenerate human health.

Gene-editing companies can only make money by developing products that involve editing the human genome. The clinical and commercial success of these product candidates depends on public acceptance of gene-editing therapies for the treatment of human diseases. Public attitudes could be influenced by claims that gene editing is unsafe, unethical, or immoral. Consequently, products created through gene editing may not gain the acceptance of the government, the public, or the medical community. Adverse public reaction to gene therapy, in general, could result in greater government regulation and stricter labeling requirements of gene-editing products. Stakeholders in government, third-party payors, the medical community, and private industry must work to create standards that are both safe and comply with prevailing ethical norms.

The most significant danger to growth in gene-editing technologies lies in ethical concerns about their application to human embryos or the human germline. In 2016, a group of scientists edited the genome of human embryos to modify the gene for hemoglobin beta, the gene in which a mutation occurs in patients with the inherited blood disorder beta thalassemia. Although conducted in non-viable embryos, it shocked the public that scientists could be experimenting with human eggs, sperm, and embryos to alter human life at creation. Then, in 2018, a biophysics researcher in China created the first human genetically edited babies, twin girls, causing public outcry (and triggering government sanctioning of the researcher). In response, the World Health Organization established a committee to advise on the creation of standards for gene editing oversight and governance standards on a global basis.

Some influential non-governmental agencies have called for a moratorium on gene editing, particularly as applied to altering the creation or editing of human life. Other have set forth guidelines on how to use gene-editing technologies in therapeutic applications. In the United States, the National Institute of Health has stated that it will not fund gene-editing studies in human embryos. A U.S. statute called The Dickey-Wicker Amendment prohibits the use of federal funds for research projects that would create or destroy human life. Laws in the United Kingdom prohibit genetically modified embryos from being implanted into women. Still, embryos can be altered in research labs under license from the Human Fertilisation and Embryology Authority.

Regulations must keep pace with the change that CRISPR-Cas9 has brought to research labs worldwide. Developing international guidelines could be a step towards establishing cohesive national frameworks. The U.S. National Academy of Sciences recommended seven principles for the governance of human genome editing, including promoting well-being, transparency, due care, responsible science, respect for persons, fairness, and transnational co-operation. In the United Kingdom, a non-governmental organization formed in 1991 called The Nuffield Council has proposed two principles for the ethical acceptability of genome editing in the context of reproduction. First, the intervention intends to secure the welfare of the individual born due to such technology. Second, social justice and solidarity principles are upheld, and the intervention should not result in an intensifying of social divides or marginalizing of disadvantaged groups in society. In 2016, in application of the same, the Crick Institute in London was approved to use CRISPR-Cas9 in human embryos to study early development. In response to a cacophony of conflicting national frameworks, the International Summit on Human Gene Editing was formed in 2015 by NGOs in the United States, the United Kingdom and China, and is working to harmonize regulations global from both the ethical and safety perspectives. As CRISPR co-inventor Jennifer Doudna has written in a now infamous editorial in SCIENCE, stakeholders must engage in thoughtfully crafting regulations of the technology without stifling it.

The COVID-19 pandemic has forced us to rely more on new technologies to keep us healthy, adapt to working from home, and more. The pandemic makes us more reliant on innovative digital, biological, and physical solutions. It has created a united sense of urgency among the public and private industry (together with government and academia) to be more creative about using technology to regenerate health. With continued advances in computing power, network architecture, communications bandwidths, artificial intelligence, machine learning, and gene editing, society will undoubtedly find more cures for debilitating disease and succeed in regenerating human health. As science advances, it inevitably intersects with legal and ethical norms, both for individuals and civil society, and there are new externalities to consider. Legal and ethical norms will adapt, rebalancing the interests of each. The fourth industrial revolution is accelerating, and hopefully towards curing disease.

Continued here:
Future Visioning the Role of CRISPR Gene Editing: Navigating Law and Ethics to Regenerate Health and Cure Disease - IPWatchdog.com

"Despite the projected growth in market applications andabundant investment capital, there is a danger that legal andethical concerns related to genetic research could put the brakeson gene editing technologies and product programs emanatingtherefrom."

There are thousands of diseases occurring in humans, animals,and plants caused by aberrant DNA sequences. Traditional smallmolecule and biologic therapies have only had minimal success intreating many of these diseases because they mitigate symptomswhile failing to address the underlying genetic causes. While humanunderstanding of genetic diseases has increased tremendously sincethe mapping of the human genome in the late 1990s, our ability totreat them effectively has been limited by our historical inabilityto alter genetic sequences.

The science of gene editing was born in the 1990s, as scientistsdeveloped tools such as zinc-finger nucleases (ZFNs) and TALEnucleases (TALENs) to study the genome and attempt to altersequences that caused disease. While these systems were anessential first step to demonstrate the potential of gene editing,their development was challenging in practice due to the complexityof engineering protein-DNA interactions.

Then, in 2011, Dr. Emmanuelle Charpentier, a French professor ofmicrobiology, genetics, and biochemistry, and Jennifer Doudna, anAmerican professor of biochemistry, pioneered a revolutionary newgene-editing technology called CRISPR/Cas9. Clustered Regularly InterspacedShort Palindromic Repeats (CRISPR) and Cas9 stands forCRISPR-associated protein 9. In 2020, the revolutionary work ofDrs. Charpentier and Doudna developing CRISPR/Cas9 were recognizedwith the Nobel Prize for Chemistry. The technology was also thesource of a long-running and high-profile patent battle between two groups ofscientsists.

CRISPR/Cas9 for gene editing came about from a naturallyoccurring viral defense mechanism in bacteria. The system ischeaper and easier to use than previous technologies. It deliversthe Cas9 nuclease complexed with a synthetic guide RNA (gRNA) intoa cell, cutting the 'cell's genome at the desired location,allowing existing genes to be removed and new ones added to aliving organism's genome. The technique is essential inbiotechnology and medicine as it provides for the genomes to beedited in vivo with extremely high precision, efficiently, and withcomparative ease. It can create new drugs, agricultural products,and genetically modified organisms or control pathogens and pests.More possibilities include the treatment of inherited geneticdiseases and diseases arising from somatic mutations such ascancer. However, its use in human germline genetic modification ishighly controversial.

The following diagram from CRISPR Therapeutics AG, a Swisscompany, illustrates how it functions:

In the 1990s, nanotechnology and gene editing were necessaryplot points for science fiction films. In 2020, developments likenano-sensors and CRISPR gene editing technology have moved thesetechnologies directly into the mainstream, opening a new frontierof novel market applications. According to The Business ResearchCompany, the global CRISPR technology market reached a value ofnearly $700 million in 2019, is expected to more than double in2020, and reach $6.7 billion by 2030. Market applications targetall forms of life, from animals to plants to humans.

Gene editing's primary market applications are for thetreatment of genetically-defined diseases. CRISPR/Cas9 gene editingpromises to enable the engineering of genomes of cell-basedtherapies and make them safer and available to a broader group ofpatients. Cell therapies have already begun to make a meaningfulimpact on specific diseases, and gene editing helps to acceleratethat progress across diverse disease areas, including oncology anddiabetes.

In the area of human therapy, millions of people worldwidesuffer from genetic conditions. Gene-editing technologies likeCRISPR-Cas9 have introduced a way to address the cause ofdebilitating illnesses like cystic fibrosis and create betterinterventions and therapies. They also have promising marketapplications for agriculture, food safety, supply, anddistribution. For example, grocery retailers are even looking athow gene editing could impact the products they sell. Scientistshave created gene-edited crops like non-browning mushrooms andmildew-resistant grapes - experiments that are part of an effort toprevent spoilage, which could ultimately change the way food issold.

Despite the inability to travel and conduct face-to-facemeetings, attend industry conferences or conduct business otherthan remotely or with social distance, the investment markets forventure, growth, and private equity capital, as well as corporateR&D budgets, have remained buoyant through 2020 to date.Indeed, the third quarter of 2020 was the second strongest quarterever for VC-backed companies, with 88 companies raising roundsworth $100 million or more according to the latest PwC/Moneytreereport. Healthcare startups raised over $8 billion in the quarterin the United States alone. Gene-editing company MammouthBiosciences raised a $45 million round of Series B capital in thesecond quarter of 2020. CRISPR Therapeutics AG raised more in thepublic markets in primary and secondary capital.

Bayer, Humboldt Fund and Leaps are co-leading a $65 million Series A round for Metagenomi, abiotech startup launched by UC Berkeley scientists. Metagenomi,which will be run by Berkeley's Brian Thomas, is developing atoolbox of CRISPR- and non-CRISPR-based gene-editing systems beyondthe Cas9 protein. The goal is to apply machine learning to searchthrough the genomes of these microorganisms, finding new nucleasesthat can be used in gene therapies. Other investors in the Series Ainclude Sozo Ventures, Agent Capital, InCube Ventures and HOFCapital. Given the focus on new therapies and vaccines to treat thenovel coronavirus, we expect continued wind in the sails forgene-editing companies, particularly those with strong productportfolios that leverage the technology.

Despite the projected growth in market applications and abundantinvestment capital, there is a danger that legal and ethicalconcerns related to genetic research could put the brakes ongene-editing technologies and product programs emanating therefrom.The possibility of off-target effects, lack of informed consent forgermline therapy, and other ethical concerns could cause governmentregulators to put a stop on important research and developmentrequired to cure disease and regenerate human health.

Gene-editing companies can only make money by developingproducts that involve editing the human genome. The clinical andcommercial success of these product candidates depends on publicacceptance of gene-editing therapies for the treatment of humandiseases. Public attitudes could be influenced by claims that geneediting is unsafe, unethical, or immoral. Consequently, productscreated through gene editing may not gain the acceptance of thegovernment, the public, or the medical community. Adverse publicreaction to gene therapy, in general, could result in greatergovernment regulation and stricter labeling requirements ofgene-editing products. Stakeholders in government, third-partypayors, the medical community, and private industry must work tocreate standards that are both safe and comply with prevailingethical norms.

The most significant danger to growth in gene-editingtechnologies lies in ethical concerns about their application tohuman embryos or the human germline. In 2016, a group of scientistsedited the genome of human embryos to modify the gene forhemoglobin beta, the gene in which a mutation occurs in patientswith the inherited blood disorder beta thalassemia. Althoughconducted in non-viable embryos, it shocked the public thatscientists could be experimenting with human eggs, sperm, andembryos to alter human life at creation. Then, in 2018, abiophysics researcher in China created the first human geneticallyedited babies, twin girls, causing public outcry (and triggeringgovernment sanctioning of the researcher). In response, the WorldHealth Organization established a committee to advise on thecreation of standards for gene editing oversight and governancestandards on a global basis.

Some influential non-governmental agencies have called for amoratorium on gene editing, particularly as applied to altering thecreation or editing of human life. Other have set forth guidelineson how to use gene-editing technologies in therapeuticapplications. In the United States, the National Institute ofHealth has stated that it will not fund gene-editing studies inhuman embryos. A U.S. statute called "The Dickey-WickerAmendment" prohibits the use of federal funds for researchprojects that would create or destroy human life. Laws in theUnited Kingdom prohibit genetically modified embryos from beingimplanted into women. Still, embryos can be altered in researchlabs under license from the Human Fertilisation and EmbryologyAuthority.

Regulations must keep pace with the change that CRISPR-Cas9 hasbrought to research labs worldwide. Developing international guidelines could be a steptowards establishing cohesive national frameworks. The U.S.National Academy of Sciences recommended seven principles for thegovernance of human genome editing, including promoting well-being,transparency, due care, responsible science, respect for persons,fairness, and transnational co-operation. In the United Kingdom, anon-governmental organization formed in 1991 called The NuffieldCouncil has proposed two principles for the ethical acceptabilityof genome editing in the context of reproduction. First, theintervention intends to secure the welfare of the individual borndue to such technology. Second, social justice and solidarityprinciples are upheld, and the intervention should not result in anintensifying of social divides or marginalizing of disadvantagedgroups in society. In 2016, in application of the same, the CrickInstitute in London was approved to use CRISPR-Cas9 in humanembryos to study early development. In response to a cacophony ofconflicting national frameworks, the International Summit on HumanGene Editing was formed in 2015 by NGOs in the United States, theUnited Kingdom and China, and is working to harmonize regulationsglobal from both the ethical and safety perspectives. As CRISPRco-inventor Jennifer Doudna has written in a now infamous editorialin SCIENCE, "stakeholders must engage in thoughtfullycrafting regulations of the technology without stiflingit."

The COVID-19 pandemic has forced us to rely more on newtechnologies to keep us healthy, adapt to working from home, andmore. The pandemic makes us more reliant on innovative digital,biological, and physical solutions. It has created a united senseof urgency among the public and private industry (together withgovernment and academia) to be more creative about using technologyto regenerate health. With continued advances in computing power, networkarchitecture, communications bandwidths, artificial intelligence,machine learning, and gene editing, society will undoubtedly findmore cures for debilitating disease and succeed in regeneratinghuman health. As science advances, it inevitably intersects withlegal and ethical norms, both for individuals and civil society,and there are new externalities to consider. Legal and ethicalnorms will adapt, rebalancing the interests of each. The fourthindustrial revolution is accelerating, and hopefully towards curingdisease.

Originally published by IPWatchdog.com, November 24,2020.

The content of this article is intended to provide a generalguide to the subject matter. Specialist advice should be soughtabout your specific circumstances.

The rest is here:
Future Visioning The Role Of CRISPR Gene Editing: Navigating Law And Ethics To Regenerate Health And Cure Disease - Technology - United States -...

Watch this on-demand webinar with Dr. Petter Brodin to learn about new insights into the immune response to SARS-CoV-2

A popular SelectScience webinar that provides important new insights into the immune system responses to SARS-CoV-2 infection is now available on demand. The studies, conducted by Dr. Petter Brodin's group at Karolinska Institute in Stockholm, took a systems-level approach to analyze both the cellular and protein components involved, using methodologies including mass cytometry, flow cytometry and high-multiplex proteomics.

A longitudinal study of severe COVID-19 patients identified distinct patterns of immune cell coregulation in four different stages of the disease and demonstrated a shared trajectory of immunological recovery that may provide future biomarkers of disease progression. In an investigation of multisystem inflammatory syndrome in children (MIS-C), a relatively rare complication of SARS-CoV-2 infection in children, important differences in inflammatory response were seen between MIS-C and severe COVID-19 in adults. Moreover, while some similarities were observed between inflammatory responses in MIS-C and Kawasaki disease, important differences were also apparent, particularly in the T cell subsets involved.

Read on for highlights from the live Q&A discussion with Dr. Brodin or register to watch the full webinar on demand >>

PB: If we start with MIS-C and Kawasaki disease, then Kawasaki disease occurs in young children 2-4 years of age in the wintertime. It's a viral infection of a different kind and the thing about Kawasaki disease is that children present with a rash and sometimes heart involvement. Initially, when this MIS-C presentation started to occur, people mistook them for Kawasaki Disease. However, we've now learned that Kawasaki disease and MIS-C often involve different populations of children. MIS-C typically involves older kids, children of teenage years and often much more severe in presentation than the typical Kawasaki disease. They often have abdominal involvement with vomiting, stomach ache, and so on, which is not typical in Kawasaki disease. There are clearly clinical differences between MIS-C and Kawasaki disease.

When it comes to acute COVID and these other post-infectious conditions, they are quite distinct. Acute COVID typically begins with a respiratory infection, coughing, fever, and then, later on, might develop into a hyperinflammatory disease. At that time, during the hyperinflammatory later phases of the infection, then there can be similarities between MIS-C and acute COVID, but that is sort of in the later stages.

PB: This has been probably the most important issue to sort out since we started to learn about this new virus because what's pretty evident is that for the majority of patients and people infected with SARS-CoV-2, the infection is rather mild. A lot of people have fevers and a cough, and so on. Young children more frequently are asymptomatic, but then in all age groups, some individuals develop very severe disease. Most commonly, of course, men more than women, and older people more than young people. There is a very big variation in presentation with patients with COVID-19.

We've learned quite a bit over these past 10 months, with 30,000 papers published. There has been an extraordinary development in understanding both the virus, but also the immune response to the virus. We know now that men suffer often more severe disease than women when it comes to acute COVID, are more likely to end up in intensive care units and more likely to die. We think that this is related to differences in the immune system between men and women because the infection rate, the likelihood of being infected, is not different in men and women, as far as we know.

What are those immune system differences? There have been a couple of reports, and we know from other people's work that, for example, vaccine responses differ between men and women. We also know that many autoimmune diseases, particularly diseases such as lupus, which involves interferon responses, are much more prominent in women than in men, more common in women than in men. A lot of evidence points towards differences in men and women with respect to innate, initial antiviral immune responses, both before COVID-19 but also now.

I think that is probably the best determinant we have to date, to explain the differences in COVID-19 severity. It has to do with the ability to mount a robust early immune response to the virus, involving type 1 interferons but also other factors probably.

PB: I think that relates to the MIS-C work, which was done in children. The question implies that there are genetic differences when it comes to the likelihood of getting the infection. That particular question we have not studied. It's very difficult to study whether people are resistant to a particular virus. Those people are very difficult to find. We are looking into genetic host factors that would explain both why some children develop MIS-C, while most children obviously don't, and also those factors, genetics and other things, that might determine why an individual develops severe COVID versus a milder COVID. There has been some progress made in that area by researchers such as Jean-Laurent Casanovas Lab at the Rockefeller Institute, Helen Su at the NIH, leading a large consortium called Human Genetic Effort. Their patients with rare immunodeficiencies involving viral sensing and interferon responses have been reported and those are individuals that are very rare, but they presented with life-threatening COVID-19. That's related in general to the infection, not specifically children.

PB: My guess is that it might involve prior coronaviruses, but that remains to be determined. I believe, and I think quite a few people believe, that the coronaviruses are so abundant that not only children would carry immunity to such viruses but probably also quite a few adults. Therefore, it does not entirely, in my opinion, explain why children are so able to manage this infection without severe disease in general. I think probably this points more to differences in the immune system. If you think about it from an evolutionary point of view, or life history point of view, children are experts at responding to new pathogens because the younger a child is, the less experience that child would have, and the more able the child must be to respond to a new infection. While adult people, and especially older people, they can get by quite well by relying on their memory responses of prior exposures. Typically, older people might be less equipped to respond to new pathogens. This can be explained by many different factors, the lower number of naive cells in the adaptive immune system, thymic involution, and then lack of production of naive T cells, and so on. I think there are many different pieces to this puzzle, and we only know a little bit of that at the moment.

Q: What do you see are the biggest advantages of combining the two platforms used in your studies?

PB: Sometimes people say that immune responses don't occur in the blood, and so there's no point in looking in the blood. Instead, all the relevant responses occur in tissues. Obviously, it's true that the blood is not the main siteof immune activity; it is definitely tissue, specific responses that we cannot see in the blood. Given the fact that we can sample the blood so easily and we can collect non-determinable samples, there is real potential in detecting important signals in the blood, even if the immune response is actually going on primarily in a distal tissue, like the lung.What do we do to study the blood in the best possible way? My group has reasoned that by looking at the various components of blood and the immune cells and proteins that make up the blood immune system, and the circulating immune system, and doing that in the most comprehensive way that we can, we believe this gives us a very strong potential, sort of an ability to actually look at the immune response in younger children, or over time in a patient. This combination of technologies, the Olink platform for plasma protein measurements which gives very reproducible signals with very low background signal, and then the mass cytometry assay, which gives us very broad coverage of the immune cell components, we think it's a very strong combination of features.

Watch this on-demand webinar to find out more in-depth insights about the immune responses of COVID-19>>

Read more:
Understanding the immunology of COVID-19 - SelectScience

Thirteen researchers from the Technical University of Munich (TUM) are among the most cited in their respective fields. This is shown by the current edition of the ranking Highly Cited Researchers.In their publications, scientists cite the most important papers previously published on the respective topic. The frequency of citations is therefore a good indicator of the quality and worldwide recognition of a research work and its authors. Using the Web of Science database, which records scientific publications from a wide range of disciplines, the US company Clarivate Analytics once a year identifies the Highly Cited Researchers.

The current edition of the ranking lists the scientists who were cited most frequently in their respective fields from 2009 to 2019. Researchers who were cited frequently in various fields are listed in the Cross-Field category. In total, the list includes about 6,400 persons in no particular order, including the following researchers from TUM:

Agricultural Sciences:

Chemistry:

Clinical Medicine:

Psychiatry and Psychology:

Environment and Ecology:

Cross-Field:

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Thirteen TUM researchers among the most cited worldwide - India Education Diary

From Popular Mechanics:

Researchers from Germany's Max Planck Institute of Molecular Cell Biology and Genetics in Germany and Japan's Central Institute for Experimental Animals introduced a specifically human gene,ARHGAP11B, into the fetus of a common marmoset monkey, causing the enlargement of its brain's neocortex. The scientistsreported their findings in Science.

Those findings include a good indication that the ARHGAP11B gene played a key role in the development of the human neocortex, and, by extension, human evolution overall. (A 2015 study saw similar results with ARHGAP11B implanted in mice embryos, which "produced many more neural progenitor cells and could even undergo folding of their normally unfolded neocortex.")

In a press alert, the scientists behind the study were careful to specifically refer to their subjects as "transgenic non-human primates," which differentiates them from transgenic common marmosets, or humans (we're not given a cool classification for the sake of objectivity). They also included this ethical caveat:

We confined our analyses to marmoset fetuses, because we anticipated that the expression of this human-specific gene would affect the neocortex development in the marmoset. In light of potential unforeseeable consequences with regard to postnatal brain function, we considered it a prerequisite and mandatory from an ethical point of view to first determine the effects of ARHGAP11B on the development of fetal marmoset neocortex.

So, we're still a little ways away from a horrible interactive Planet of the Apes remix. That's good.

Somewhat related: I re-read Karen Joy Fowler's award-winning fiction-about-science novel We Are All Completely Beside Ourselves this summer, which I think every human being should read if they have not yet.

Uh-Oh, Scientists Used Human Genes to Make Monkey Brains Bigger [Tim Childers / Popular Mechanics]

Human-specific ARHGAP11B increases size and folding of primate neocortex in the fetal marmoset [Michael Heide, Christiane Haffner, Ayako Murayama, Yoko Kurotaki, Haruka Shinohara, Hideyuki Okano, Erika Sasaki, and Wieland B. Huttner]

Human brain size gene triggers bigger brain in monkeys [EurekaAlert!]

Image: Public Domain via Wikimedia Commons

Read more from the original source:
Scientists successfully implanted human genes into monkeys to increase their brain mass - Boing Boing

The Global Gaucher Disease Treatment Market report provides a holistic evaluation of the market for the forecast period (20182026). The report comprises of various segments as well an analysis of the trends and factors that are playing a substantial role in the market. These factors; the market dynamics involve the drivers, restraints, opportunities and challenges through which the impact of these factors in the market are outlined. The drivers and restraints are intrinsic factors whereas opportunities and challenges are extrinsic factors of the market. The Global Gaucher Disease Treatment Market study provides an outlook on the development of the market in terms of revenue throughout the prognosis period. Major Players included in this report are as follows Genzyme Corporation, Pfizer, Inc., Shire Human Genetics Therapies, Inc., and Actelion Pharmaceuticals Ltd. (acquired by Johnson & Johnson in June 2017). There are various drugs in pipeline of companies such as Lixte Biotechnology Holdings Inc, JCR Pharmaceuticals Co Ltd, Pharming Group NV and Orphazyme ApS, for Gaucher disease treatment.

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Global Gaucher Disease Treatment Market: Scope of the Report

This report provides an all-inclusive environment of the analysis for the Global Gaucher Disease Treatment Market. The market estimates provided in the report are the result of in-depth secondary research, primary interviews and in-house expert reviews. These market estimates have been considered by studying the impact of various social, political and economic factors along with the current market dynamics affecting the Global Gaucher Disease Treatment Market growth.

Global Gaucher Disease Treatment Market: Competitive Landscape

The market analysis entails a section solely dedicated for major players in the Global Gaucher Disease Treatment Market wherein our analysts provide an insight to the financial statements of all the major players along with its key developments product benchmarking and SWOT analysis. The company profile section also includes a business overview and financial information. The companies that are provided in this section can be customized according to the clients requirements.

Geographically, this report studies the top producers and consumers in these key regions

Important details covered in the report:

Data regarding the information related to the production covering these economies is provided. The report reveals information regarding each region along with the production growth in the report. Crucial details relatable to the growth rate accounted for every region in the Gaucher Disease Treatment market is revealed in the report. The study also mentions information regarding the import and export patterns, the consumption rate as well as consumption volume in the report.

Global Gaucher Disease Treatment Market: Research Methodology

The research methodology is a combination of primary research secondary research and expert panel reviews. Secondary research includes sources such as press releases company annual reports and research papers related to the industry. Other sources include industry magazines, trade journals, government websites and associations were can also be reviewed for gathering precise data on opportunities for business expansions in Global Gaucher Disease Treatment Market.

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Introduction about Global Gaucher Disease Treatment Market

Global Gaucher Disease Treatment Market Size (Sales) Market Share in 2018 by Product Type (Categorization) Global Gaucher Disease Treatment Market Size (Sales) Market Share in 2018 by Application Type (End-Users) Global Gaucher Disease Treatment Growth Rate and Sales (2018-2026) Global Gaucher Disease Treatment Market Share and Sales (Volume) Comparison by Applications Global Gaucher Disease Treatment Suppliers/Players Profiles along with their Sales Data Gaucher Disease Treatment Competition by Region, Application, Type, and Suppliers/Players Defined (Value, Sales Price, and Volume) table for each geographic region under Gaucher Disease Treatment A separate table of product value, market sales, gross margin, and revenue (2014-2019) for each product type

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Major Topics Covered in this Report

Chapter 1 Study CoverageChapter 2 Executive SummaryChapter 3 Market Size by ManufacturersChapter 4 Production by RegionsChapter 5 Consumption by RegionsChapter 6 Market Size by TypeChapter 7 Market Size by ApplicationChapter 8 Manufacturers ProfilesChapter 9 Production ForecastsChapter 10 Consumption ForecastChapter 11 Upstream, Industry Chain and Downstream Customers AnalysisChapter 12 Opportunities & Challenges, Threat and Affecting FactorsChapter 13 Key FindingsChapter 14 Appendix

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Gaucher Disease Treatment Market Booming in Americas & Europe With Top Players, Growth, Size, Major Drivers and Forecast to 2026 | Genzyme...