Daily Archives: December 6, 2020

Human beings tend to be fascinated with their beginnings. Origin stories are found across cultures, religions, ethnicities and nationalities and they are all deeply important. These stories tell people where they come from, how they fit in and how everyone fits together.

One of these stories, of course, is the story of human genes, and it's a story anyone with human DNA shares.

As scientists find more ancient human DNA, sample more modern DNA and develop more ways to analyze this genetic material, it's revealing a lot about how early humans moved and moved and moved around the world, coming to inhabit nearly every swath of land.

So after thousands and thousands of years of nearly constant migration, are there any people out there who have never left the spot where it's thought Homo sapiens evolved? Put another way, is there anybody on Earth who isn't an immigrant?

Related: Why haven't all primates evolved into humans?

"From a scientific point of view, maybe the only people that you could consider not to be immigrants would be some Khoe-San-speaking groups in southern Africa," said Austin Reynolds, an assistant professor of anthropology at Baylor University in Texas who specializes in human population genetics.

The designation Khoe-San (pronounced coy-sawn) refers to certain African communities in the areas of Botswana, Namibia, Angola and South Africa who speak similar languages with distinctive clicking consonants, Reynolds told Live Science.

Reynolds said there are two main factors indicating that Khoe-San groups may be non-migratory descendants of original humans: They live in the place where it's likely humans first appeared, and they have a high amount of genetic diversity. A good way to understand why high genetic diversity indicates original ancestry is by comparing genes to a bowl of M&Ms, Reynolds said. Handfuls taken out of the bowl i.e. people who broke off from the original human population might have only a couple M&Ms colors in them, but the original bowl will have all the colors.

Yet despite the Khoe-San groups' proximity to the proverbial "cradle of humankind" and their significant genetic diversity, identifying them as the last genetically aboriginal peoples is not cut and dry.

Firstly, researchers dont know for sure that southern Africa is the cradle of humankind. Some scientists think humans first evolved in East Africa, said Reynolds, and scientists haven't amassed enough archaeological evidence in either area to be completely certain just where Homo sapiens first came on the scene.

There's even a possibility people evolved in western Africa, Mark Stoneking, a molecular geneticist at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, told Live Science. Different environments do a worse or better job at preserving fossil remains, Stoneking said, so just because human remains were or were not found in specific places doesn't mean humans didn't live there long ago.

Stoneking doesn't think there are any folks left on Earth who aren't scientifically, at least immigrants.

"People have always been on the move," Stoneking said. His recent genetic research on populations across Asia has shown that there's a touch of just about everyone in everyone else. "All human populations have been in contact with others," including the Khoe-San, he said, denoted by evidence in their genes, their cultures and their languages.

Early humans moved extensively around Africa for more than 100,000 years before leaving, at which point they probably moved out of eastern Africa into the Middle East, Stoneking said. It's likely that not long afterward, people headed southeastward along the Indian coast, with many more waves of migrants following these original adventurers over a span of tens of thousands of years. Along the way, there would have been a great exchange of DNA, Stoneking said, and these two components movement and intermixture is what he sees as a defining characteristic of the human species.

"Humans what they like to do is migrate, and they like to have sex," Stoneking said. And so it seems to have been since time immemorial.

Originally published on Live Science.

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Is anyone on Earth not an immigrant? - Livescience.com

A new report added by Research Dive offers insights and puts forth the impact of COVID-19 catastrophe on the global human genetics market. According to the report, the human genetics market is estimated to grow at a significant rate and generate robust revenue share by 2027 during the forecast period from 2020 to 2027.

The report provides brief summary and an in-depth information of the market by collecting data from industry experts and different sources prevalent in the market. The statistics presented in the report are extensive, reliable, and the outcome of an exhaustive analytical research. The report offers qualitative and quantitative trend analysis for the period of 2020-2027 to assist stakeholders to understand the overall market scenario. Comprehensive analysis of the key segments validates the types of products used in the industry and their applications.

MARKET SEGMENTATION

On the basis of type, the global human genetics market is segmented into:

Product Type Segmentation Prenatal Genetics Cytogenetics Molecular Genetics & Symptom Genetics

For More Detail Insights, Download Sample Copy of the Report at: https://www.researchdive.com/request-toc-and-sample/2137

On the basis of application, the global human genetics market is segmented into:

Cytogenetics Molecular Genetics Prenatal Genetics Symptom Genetics Research Center Industry Segmentation Forensic Laboratories Hospital

On the basis of region, the global human genetics market is segmented into:

North America U.S. Canada Mexico

Europe Germany UK France Spain Italy Rest of Europe

Asia-Pacific Japan China India Australia South Korea Rest of Asia-Pacific

LAMEA Brazil Argentina Saudi Arabia South Africa UAE Rest of LAMEA

Connect with Our Analyst to Contextualize Our Insights for Your Business: https://www.researchdive.com/connect-to-analyst/2137

KEY COMPANIES COVERED

The research report summarizes and outlines several aspects of the key players operating in the global human genetics market such as company snapshot, business performance, product portfolio, recent developments & strategies, SWOT analysis, and many more. The key players listed are:

LGC Forensics Agilent Technologies QIAGEN N.V. Bode Technology Illumina Thermo Fisher Scientific Inc. Promega Corporation Orchid Cellmark Inc. NextOmics GE Healthcare Takara Bio Inc. Oxford Nanopore Pacific Biosciences

RECENT DEVELOPMENTS

The key players of the market are adopting several strategies to obtain a leading position in the global industry. For instance, in August 2020, Ancestry launched AncestryHealth, a product that features next-generation sequencing with an ability to screen the genes associated with blood disorders, breast cancer, colon cancer, and heart disease.

Contact Us:

Mr. Abhishek PaliwalResearch Dive30 Wall St. 8th Floor, New YorkNY 10005 (P)+ 91 (788) 802-9103 (India)+1 (917) 444-1262 (US) TollFree : +1 -888-961-4454Email:support@researchdive.comLinkedIn:https://www.linkedin.com/company/research-diveTwitter:https://twitter.com/ResearchDiveFacebook:https://www.facebook.com/Research-DiveBlog:https://www.researchdive.com/blogFollow us on:https://covid-19-market-insights.blogspot.com

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Insights on Human Genetics Market 2020 to 2027: COVID-19 Impact Analysis, Drivers, Opportunity Analysis, Restraints, and Forecast - The Courier

This article was originally published here

Nat Rev Genet. 2020 Dec 4. doi: 10.1038/s41576-020-00297-6. Online ahead of print.

ABSTRACT

Understanding how human genetics influence infectious disease susceptibility offers the opportunity for new insights into pathogenesis, potential drug targets, risk stratification, response to therapy and vaccination. As new infectious diseases continue to emerge, together with growing levels of antimicrobial resistance and an increasing awareness of substantial differences between populations in genetic associations, the need for such work is expanding. In this Review, we illustrate how our understanding of the host-pathogen relationship is advancing through holistic approaches, describing current strategies to investigate the role of host genetic variation in established and emerging infections, including COVID-19, the need for wider application to diverse global populations mirroring the burden of disease, the impact of pathogen and vector genetic diversity and a broad array of immune and inflammation phenotypes that can be mapped as traits in health and disease. Insights from study of inborn errors of immunity and multi-omics profiling together with developments in analytical methods are further advancing our knowledge of this important area.

PMID:33277640 | DOI:10.1038/s41576-020-00297-6

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Host genetics and infectious disease: new tools, insights and translational opportunities - DocWire News

Detailed look: Some mutations in the autism gene NCKAP1 interfere with a cells ability to transport NCKAP1 protein into and out of its nucleus.

Many people with mutations that disrupt a gene called NCKAP1 have autism or autism traits along with speech and language problems, motor delays and learning difficulties according to a new study. The results, from a large international team of researchers and clinicians, clarify how mutations in NCKAP1 affect people and solidify its position as a top autism gene.

Sequencing studies over the past decade have turned up three autistic people with de novo, or non-inherited, variants that likely disrupt NCKAP1, putting it on a list of genes strongly tied to autism. Other work has shown that mice that do not express the gene have atypical brain development.

But those reports contain little information about the outward characteristics of people with NCKAP1 mutations which are challenging to study because variants in the gene are rare, says Hui Guo, associate professor of life sciences at Central South University in Changsha, China.

In the new work, Guo teamed up with scientists and clinicians across the globe to identify and characterize 18 additional people with NCKAP1 mutations.

This study demonstrates that international cooperation among many institutions is becoming fundamental to advancing our understanding of rare variants, says Abha Gupta, assistant professor of pediatrics at Yale University, who was not involved in the study.

Painting a detailed picture of traits associated with NCKAP1 mutations can also improve a persons chance of being diagnosed and provide guidance about expected outcomes, she says.

Guo asked colleagues who collect genetic data for other research to sift through their records for people with NCKAP1 variants. He also used GeneMatcher, a site that connects researchers to clinicians interested in the same genetic variants.

For each person Guo and his colleagues identified, they followed up to assess that individuals clinical traits; they either contacted the person directly or asked medical professionals to review the persons records.

The researchers also collected genetic and clinical information about family members of the people with NCKAP1 mutations to determine if the variants had been inherited.

In all, the team identified and characterized the traits of 21 affected people across seven countries.

Thats a lot of work, considering how rare an NCKAP1 variant is, says Megan Dennis, assistant professor of biochemistry and molecular medicine at the University of California, Davis MIND Institute, who was not involved in the study.

The people in Guos cohort ranged in age from 7 to 23 years at the time they were assessed.

The researchers diagnosed autism in 10 out of 15 participants who had been previously assessed for the condition; 2 others have autism traits but no formal diagnosis; the remaining 3 have no reported autism traits. Another 12 participants have difficulties with speech and language, 11 have delayed motor function, and 11 have intellectual or learning disabilities.

According to the clinical assessments, nine of the participants have had sleep problems and seven have experienced seizures, both of which are also associated with autism. The results were published in The American Journal of Human Genetics in November.

Guo and his colleagues further investigated the variants effects on NCKAP1 function by introducing mutations from five participants into cultured human embryonic kidney cells. They tagged NCKAP1 protein with a fluorescent marker to trace its location in the cells.

NCKAP1 protein is typically present throughout the cell. Two variants, though, cause it to appear mainly in the cytoplasm, suggesting that these mutations create problems with transporting the protein into and out of the nucleus.

The team also evaluated how NCKAP1 expression varies throughout development by using the BrainSpan atlas, which catalogs gene-expression data from human brain tissue from 8 weeks after conception to 40 years of age. NCKAP1 is highly expressed during the second and third month of prenatal development, and at multiple points throughout a persons life, they found.

They also found that the spatial distribution of NCKAP1 expression across the brain most closely resembles the spatial distribution of gene clusters associated with excitatory neurons and radial glia, and not with inhibitory neurons. This pattern suggests the NCKAP1 gene has a function that is specific for these cell types perhaps by regulating their structure or ensuring that they differentiate properly, the researchers say.

The team further compared the brains of typically developing mice with those of mice that were treated to express less NCKAP1 protein. They injected the embryonic mice with a fluorescent protein that tags nascent cortical neurons, and then assessed where those cells ended up after two or four days. In mice that express less NCKAP1, many of the neurons did not arrive at the correct final location, the team found, suggesting that the gene may play a role in the migration of these cells. That finding, though preliminary, fits with prior work tying premature NCKAP1 expression to delayed neuronal migration.

The functional studies shed some light on the mechanisms that may underlie a genetically based form of autism, Dennis says. But in terms of being able to have any kind of actionable clinical information, theres still more to be done.

Guo and his colleagues plan to characterize the traits tied to rare mutations in other top autism genes, with the goal of defining specific genetic or molecular subtypes of the condition.

See the article here:
Rare variants tied to neuronal migration, autism traits - Spectrum

Hadley Horch and Scott McEachern

The second session featured Horch alongside noted anthropologist and former Bowdoin professor Scott MacEachern, who is now vice chancellor for academic affairs at Duke Kunshan University in China. This discussion, titled Eugenics and the IQ Test, revisited the theme of the misuse of scientific knowledge. Particular attention was paid to the problems of trying to define and measure intelligence. Any documented difference in IQ scores between different racial and ethnic groups says more about inequality in societies than it does about intelligence, said Horch. Environmental and cultural factors are rarely well-controlled in these comparison studies, she added.

There are important lessons to be learned from studying the impact of eugenics in the last century, said Horch and Logan. Today we are exposed to brand new sources of information, vast troves of genomic information that weve never had before, said Logan, and in managing that there comes huge ethical responsibility. He is referring to the era ushered in by the Human Genome Projecta multiyear international scientific effort to map all human genes. The thirteen-year project, which concluded in 2003, has given scientists the most accurate reading yet of the entire human genetic sequence and greatly increased our capacity to survey the genomes of humans and other organisms. The discovery, said Logan, marked a quantum leap in human knowledge. There are, however, problems with the huge data sets used in the project, said Horch, because about 70 percent of the genetic information sampled is from people of white European stock. This points to an inherent bias in the data, she explained, so there is much in the way of complexity and richness that is not represented.

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Seminars Explore the Immorality of the Eugenics Movement and Its Implications Today - Bowdoin News

One of the most elusive aspects for clinicians treating COVID-19 is the bodys immune response to the virus. In the most severe cases of COVID-19, the immune system goes into overdrive, resulting in a fever, multiorgan system damage, and often deatha cytokine storm. But how to detect and treat a cytokine storm requires that clinicians can identify it as such.

Two Penn Medicine researchers have developed a unifying definition of cytokine storm to provide physicians with a framework to assess and treat severely-ill patients whose immune systems have gone rogue. Cytokine storms can be triggered by different pathogens, disorders, or treatments, from COVID-19 to Castleman disease to CAR T cell therapy.

In a paper published in the New England Journal of Medicine, David Fajgenbaum, an assistant professor of translational medicine & human genetics and director of the Center for Cytokine Storm Treatment & Laboratory (CSTL), and Carl June, a professor of pathology and laboratory medicine and director of the Center for Cellular Immunotherapies in the Abramson Cancer Center, and the Parker Institute for Cancer Immunotherapies define a cytokine storm as requiring elevated circulating cytokine levels, acute systemic inflammatory symptoms, and secondary organ dysfunction beyond what could be attributed to a normal response to a pathogen, if a pathogen is present.

There has never been a defining central review of what a cytokine storm is and how to treat one, and now with COVID-19, that is a major issue, says Fajgenbaum, a Castleman disease patient who has previously experienced five cytokine storms himself. Ive spent the last 10 years of my life as a cytokine storm patient and researcher, so I know the importance of having a comprehensive unified definition to find therapies that work across the various types of cytokine storms.

There is widespread recognition that the immune response to a pathogen, but not the pathogen itself, can contribute to multiorgan dysfunction and other symptoms. Additionally, similar cytokine storm syndromes can occur with no obvious infection.

Read more at Penn Medicine News.

See more here:
Charting a path forward with unifying definition of cytokine storm - Penn Today

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Grooms Wanted - The Tribune

A causal relationship between high density lipoprotein cholesterol (HDL-C) and gout was established in a Mendelian randomization study published in the Journal of Human Genetics.

Genetic data and HDL-C, low-density lipoprotein cholesterol (LDL-C), total cholesterol (TC), and triglyceride (TG) concentrations from 110,347 individuals of European ancestry included in the Global Lipids Genetics Consortium were examined in relation to a gout diagnosis (n=69,374) using additive regression adjusted for covariates.

A significant relationship between HDL-C and gout was observed: for every 12.26 mg/dL increase in HDL-C, the odds of having gout were decreased (odds ratio [OR], 0.75; 95% CI, 0.62-0.91; P =3.3110-3).

To further examine the relationship between HDL-C and gout, the investigators employed a leave-one-out approach to test the contribution of 92 instrumental HDL-C variables. The 2 largest effects were observed for the gene Aldehyde Dehydrogenase 1 Family Member A2 (ALDH1A2) and microRNA AC012181.1. The effect sizes of these 2 variables were low and did not affect the association between HDL-C and gout (OR, 0.74; 95% CI, 0.60-0.91; P =4.1810-3).

Concentrations of other lipids did not significantly alter odds of having gout. For every 30.25 mg/dL increase in LDL-C, the OR for gout was 0.81 (95% CI, 0.61-1.07; P =.079). A 36.32 mg/dL increase in TC was associated with an OR for gout of 0.98 (95% CI, 0.90-1.06; P =.604) and a 112.33 mg/dL increase in TG was associated with an OR of 1.16 for gout (95% CI, 0.93-1.45; P =.186).

Serum urate was negatively associated with HDL-C (estimated causal effect, -0.09; 95% CI, -0.12 to -0.05; P =7.0010-4) and positively associated with TG (estimated causal effect, 0.10; 95% CI, 0.06-0.14; P =9.8710-5).

Using a mediation analysis, the total effect of HDL-C on gout was -0.154 (95% CI, -0.256 to -0.051; P =3.3110-3), the direct effect was -0.106 (95% CI, -0.189 to -0.022; P =1.3510-2), and the mediation effect was -0.020 (95% CI, -0.033 to -0.008; P =1.6710-3). The mediation effect accounted for 13.0% of the total variance, indicating that urate may be an important mediator of gout and HDL-C.

In the mediation analysis, TG had a similar but inverse relationship, in which the total effect on gout was 0.082 (95% CI, -0.039 to 0.202; P =1.8610-1), the direct effect was 0.048 (95% CI, -0.057 to 0.152; P =3.71101), and the mediation effect was 0.023 (95% CI, 0.0100.037; P =8.39104). This mediation effect of urate on gout accounted for 28.0% of the total variance.

This study was limited by its sample size. Although the study included tens of thousands of adults with gout, the cases only represented 3.1% of the total dataset, possibly limiting the study power.

These data confirmed the causal association between HDL-C and TG with gout and found that serum urate levels likely mediate these relationships.

Reference

Yu X, Wang T, Huang S, et al. Evaluation of the causal effects of blood lipid levels on gout with summary level GWAS data: two-sample Mendelian randomization and mediation analysis. [published online October 25, 2020] J Hum Genet. doi:10.1038/s10038-020-00863-0

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Causal Association Between HDL-C, TG and Gout Identified - The Cardiology Advisor

THOUSAND OAKS, Calif., Dec. 3,2020 /PRNewswire/ --Amgen (NASDAQ:AMGN) will host a webcast call for the investment community on Tuesday, Dec. 8, at 4:00 p.m. ET following the 62nd American Society of Hematology (ASH) Annual Meeting & Exposition. David M. Reese, M.D., executive vice president of Research and Development at Amgen, along with members of the clinical development team, will participate to discuss our oncology and hematology programs with a focus on Amgen's innovative BiTE platform including the first clinical data for AMG 701 and analyses from a BLINCYTO (blinatumomab) Phase 3 pediatric study.

Live audio of the conference call will be broadcast over the internet simultaneously and will be available to members of the news media, investors and the general public.

The webcast, as with other selected presentations regarding developments in Amgen's business given at certain investor and medical conferences, can be accessed on Amgen's website, http://www.amgen.com, under Investors. Information regarding presentation times, webcast availability and webcast links are noted on Amgen's Investor Relations Events Calendar. The webcast will be archived and available for replay for at least 90 days after the event.

About AmgenAmgen is committed to unlocking the potential of biology for patients suffering from serious illnesses by discovering, developing, manufacturing and delivering innovative human therapeutics. This approach begins by using tools like advanced human genetics to unravel the complexities of disease and understand the fundamentals of human biology.

Amgen focuses on areas of high unmet medical need and leverages its expertise to strive for solutions that improve health outcomes and dramatically improve people's lives. A biotechnology pioneer since 1980, Amgen has grown to beone ofthe world'sleadingindependent biotechnology companies, has reached millions of patients around the world and is developing a pipeline of medicines with breakaway potential.

For more information, visitwww.amgen.comand follow us onwww.twitter.com/amgen.

CONTACT: Amgen, Thousand OaksMegan Fox, 805-447-1423 (media)Trish Rowland, 805-447-5631(media)Arvind Sood, 805-447-1060 (investors)

SOURCE Amgen

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SOUTH PLAINFIELD, N.J., Dec. 4, 2020 /PRNewswire/ --PTC Therapeutics, Inc., (NASDAQ: PTCT) today announced that Translarna (ataluren) has been granted marketing approval in the Russian Federation for nonsense mutation Duchenne muscular dystrophy (nmDMD). It is estimated that 13% of DMD patients have a nonsense mutation. In countries where it is approved, Translarna is currently the only medicine that targets the underlying cause of nmDMD.1

"Translarna was the first therapeutic ever approved for nonsense mutation Duchenne muscular dystrophy patients and we are excited to expand approval of Translarna into Russia," stated Stuart W. Peltz, Ph.D., Chief Executive Officer of PTC Therapeutics, Inc. "There has been great interest from Russian physicians to be able to access a treatment that targets the underlying cause of the disease, and a number of nmDMD patients have already been identified who can potentially benefit from Translarna. Our goal is to bring this product to nmDMD patients globally and this approval marks another important milestone."

Translarna marketing approval has been granted by the Ministry of Health of the Russian Federation for the treatment of Duchenne muscular dystrophy (DMD) caused by a nonsense mutation in patients 2 years and older. Primarily affecting males, DMD is a rare, irreversible, and fatal genetic disorder that results in progressive muscle weakness from early childhood and leads to premature death in the mid-twenties due to heart and respiratory failure.2 It is caused by the lack of functional dystrophin protein.2

About TranslarnaTranslarna (ataluren), discovered and developed by PTC Therapeutics, Inc., is a protein restoration therapy designed to enable the formation of a functioning protein in patients with genetic disorders caused by a nonsense mutation. A nonsense mutation is an alteration in the genetic code that prematurely halts the synthesis of an essential protein. The resulting disorder is determined by which protein cannot be expressed in its entirety and is no longer functional, such as dystrophin in Duchenne muscular dystrophy. Translarna is licensed in the European Economic Area for the treatment of nonsense mutation Duchenne muscular dystrophy in ambulatory patients aged two years and older. Translarna is being distributed in over 50 countries. Ataluren is an investigational new drug in the United States.

About PTC Therapeutics, Inc.PTC is a science-driven, global biopharmaceutical company focused on the discovery, development and commercialization of clinically differentiated medicines that provide benefits to patients with rare disorders. PTC's ability to globally commercialize products is the foundation that drives investment in a robust and diversified pipeline of transformative medicines and our mission to provide access to best-in-class treatments for patients who have an unmet medical need. To learn more about PTC, please visit us at http://www.ptcbio.com and follow us on Facebook, on Twitter at @PTCBio, and on LinkedIn.

For More Information:

InvestorsLisa Hayes+1 (732) 354-8687lhayes@ptcbio.com

Media:Jane Baj+1 (908) 912-9167jbaj@ptcbio.com

Forward-Looking Statements:This press release contains forward-looking statements within the meaning of The Private Securities Litigation Reform Act of 1995. All statements contained in this release, other than statements of historic fact, are forward-looking statements, including statements regarding: the future expectations, plans and prospects for PTC, including with respect to the commercialization of its products and product candidates; PTC's strategy, future operations, future financial position, future revenues, projected costs; and the objectives of management. Other forward-looking statements may be identified by the words "guidance", "plan," "anticipate," "believe," "estimate," "expect," "intend," "may," "target," "potential," "will," "would," "could," "should," "continue," and similar expressions.

PTC's actual results, performance or achievements could differ materially from those expressed or implied by forward-looking statements it makes as a result of a variety of risks and uncertainties, including those related to: the outcome of pricing, coverage and reimbursement negotiations with third party payors for PTC's products or product candidates that PTC commercializes or may commercialize in the future; PTC's ability to complete a dystrophin study necessary to support a re-submission of its Translarna NDA for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD) to the FDA, and PTC's ability to perform any necessary additional clinical trials, non-clinical studies, and CMC assessments or analyses at significant cost; PTC's ability to maintain its marketing authorization of Translarna for the treatment of nmDMD in the European Economic Area (EEA), including whether the European Medicines Agency (EMA) determines in future annual renewal cycles that the benefit-risk balance of Translarna authorization supports renewal of such authorization; PTC's ability to enroll, fund, complete and timely submit to the EMA the results of Study 041, a randomized, 18-month, placebo-controlled clinical trial of Translarna for the treatment of nmDMD followed by an 18-month open-label extension, which is a specific obligation to continued marketing authorization in the EEA; significant business effects, including the effects of industry, market, economic, political or regulatory conditions; changes in tax and other laws, regulations, rates and policies; the eligible patient base and commercial potential of PTC's products and product candidates; PTC's scientific approach and general development progress; and the factors discussed in the "Risk Factors" section of PTC's most recent Quarterly Report on Form 10-Q and Annual Report on Form 10-K, as well as any updates to these risk factors filed from time to time in PTC's other filings with the SEC. You are urged to carefully consider all such factors.

As with any pharmaceutical under development, there are significant risks in the development, regulatory approval and commercialization of new products. There are no guarantees that any product will receive or maintain regulatory approval in any territory, or prove to be commercially successful, including Translarna.

The forward-looking statements contained herein represent PTC's views only as of the date of this press release and PTC does not undertake or plan to update or revise any such forward-looking statements to reflect actual results or changes in plans, prospects, assumptions, estimates or projections, or other circumstances occurring after the date of this press release except as required by law.

1Birnkrant DJ, et al. Lancet Neurol. 2018;17:251267. Kalman L, et al. J Mol Diagn. 2011;13:167174. Bladen CL, et al. Hum Mutat. 2015;36:395402. Pichavant C, et al. Mol Ther. 2011;19:830840. Prior, et al. American Journal of Human Genetics 1995.

2About Duchenne. (n.d.). Retrieved November 30, 2020, from https://takeonduchenne.co.uk/about-duchenne/

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SOURCE PTC Therapeutics, Inc.

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PTC Announces Translarna Approval in Russia for the Treatment of Duchenne Muscular Dystrophy - BioSpace