Category Archives: Genetics

The Better Half by Sharon Moalem review on the genetic superiority of women – The Guardian

April 10, 2020 medical

Lets hear it for the female of the species and (more guardedly) for her second X-chromosome! Female superiority in colour vision, immune response, longevity, even basic survival from birth to death are illustrated in Sharon Moalems The Better Half. After decades, if not centuries, of bad press for women and their vulnerable biology, this book argues that in fact almost everything that is biologically difficult to do in life is done better by females.

Moalem, a Canadian-born physician, is a research geneticist who has identified two new rare genetic conditions. He has worked across the world in paediatric medicine, including clinics for HIV-infected infants and is also a biotechnology entrepreneur and bestselling author. The Better Half is his latest foray into the field of popular science, and presents a general argument for the superiority of womens biology to mens.

In most circumstances, a human female has two X-chromosomes, one from her father and one from her mother; a male has just one, inherited from his mother, which is paired with a Y-chromosome, inherited from his father. Moalem believes that the X-chromosome has always received a poor press, and that it is time this negative view is counteracted. He draws on swathes of medical and historical data to show that, in many instances, the superiority of womens biology is explicitly linked to their possession of the second X-chromosome. The greater complexity of womens biology, he claims, is the secret of their success it is more difficult to make a female but, once made, she trumps the male in her lifelong survival skills, for instance in her hyperefficient immune system shrugging off infection and maximising the benefits of vaccination which means that females can avoid the consequences of a wide range of life threatening events ranging from starvation and cancer to, Moalem has cautiously concluded, Covid-19.

In mainstream genetics it was long held that, despite having two X-chromosomes, female cells only made use of one: the second randomly switched off or deactivated early on in embryonic development, a process rather summarily described as an instance of genetic redundancy. There was some evidence that the deactivation reduced female chances of succumbing to X-linked problems, due to the availability of an undamaged back-up. It was acknowledged, for example (though rather grudgingly), that women generally escaped being colour blind. Moalem notes that when he was studying genetics there was much emphasis on the tiny Y-chromosome as what makes a man. He observes wryly that maybe this positivity was related to the fact that most of the people who were speaking breathlessly about the Y had one as well.

Now a new spin on the X-inactivation story is emerging in genetics. Via a process called escape from X-inactivation, it turns out that the silenced X-chromosome is not so silent after all there are escapees which may continue to offer back-up services, for instance providing extra cellular recovery options in the face of traumatic injury. It is to the benefits offered by this flexible availability within different cells that Moalem attributes the secrets of womens biological superiority.

Statistics going back as far as 1662 show women living longer than men, and todays figures show that 95% of people who have reached the age of 110 and over are female. In sport, womens success in races such as ultra-marathons offer a different perspective on what it means to be physically superior. In the spirit of Angela Sainis book Inferior, Moalem notes that this superiority has largely been ignored by medical science. And he discusses the medical trial data whose absence is observed by Caroline Criado-Perez in Invisible Women, her exploration of how the world is designed for men. Medicine needs to stop ignoring the secrets of womens biological successes, Moalem argues, and find ways of harnessing them to improve the survival chances of the whole of the human race.

Imagine you live in a world where most individuals can see 1m colours. But in one group of these people (lets call them males), about 8% cannot tell the difference between colours such as red and green, and a smaller number are totally colour blind. In a second group in this population (lets call them females), almost all can see the standard 1m colours, but some (perhaps as many as 15%) can see 100m colours. Would you excitedly rave about the amazing talent of this latter group? Or would you just describe them as not usually colour blind? This same group has an immune system that has a profound talent to fight off many forms of infection and reap major benefits from vaccinations with the down side that sometimes such hyperefficiency can lead to autoimmune disorders such as multiple sclerosis. Would you celebrate the former or emphasise the latter? For years, it is the drawbacks that have been underlined.

Research geneticists rarely get out in the field to notice the much greater survival rates of girls in paediatric ICUs

The Better Half is an eye-opening book. In explaining why the advantages that accompany females greater genetic options have to date been largely ignored, Moalem points to paradigm blindness, and to the fact that research geneticists rarely get out in the field to notice, for example, the much greater survival rates of girls in paediatric ICUs (rates which, he discovers, have been clearly obvious to the nurses doing the frontline caring).

I take issue with one part of his chapter on The Male Brain, for the moment setting aside the unproven assumption that the brains of men are different from the brains of women. Moalem chooses to consider autism, and it appears as a given in his book that autism is more common in boys than girls (itself an assumption that is increasingly being challenged). Yet at the more impaired end of the autism spectrum, it is possible that there are as many girls as boys, and his suggestion that females have a different kind of autism doesnt quite prove his wider argument. The X-linked disorders such as fragile-X or Rett syndrome receive only a passing mention not surprisingly perhaps as they run counter to his argument about the superiority of the X-chromosome.

What about hormones? Moalem has perhaps missed a good opportunity to counter oestrogens frequently negative press, and to laud its potentially neuroprotective effects. The greater susceptibility of women to Alzheimers disease is put down by Moalem to a form of anti-inflammatory process linked to an overefficient immune system; their lesser susceptibility to Parkinsons disease (surely a possible inclusion in the list of female genetic successes) is unexplained.

One section of the book focuses on why womens health is not mens health, and considers the failures of drug companies to test their products on females as well as males. For sure this has had detrimental consequences on, for example, the accuracy of dosage rates. But in at least one of the examples he gives, that of Ambien, body mass and blood volume are key factors in calculating dosage rates: because people vary enormously in size and shape, simply dividing test participants into males and females still risks inaccuracy. He is talking about averages, its true, but even so Moalem seems firmly wedded to the notion that genetic females and genetic males can be neatly categorised into two distinct types, and that the understanding of genetic sex will provide all the answers we need.

The impression given in The Better Half is that there is a lifelongfree-ranging choice between X-chromosomes available to the female, her cells dancing back and forth between the best options that will help her to heal quicker after a car crash or to overcome the bacterial infection that might lead to an ulcer. There are brief and tantalising hints about the escapees from X-inactivation in several chapters of Moalems book, but it is a shame that we are never given a full, head-on account.

Yet this book is full of wonderful titbits of information from the existence of a female prostate gland to the number of honey bee flying miles it takes to make 1lb of honey. The celebration of the genetic diversity offered by the females second X-chromosome is wholehearted and the examples Moalem gives are highly effective. He has written a powerful antidote to the myth of the weaker sex.

The Better Half: On the Genetic Superiority of Women by Sharon Moalem is published by Allen Lane (RRP 20).

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The Better Half by Sharon Moalem review on the genetic superiority of women - The Guardian

Genetics

New Tool Helps Gather Useful Genetic Information Obtained from Blood, Skin Tissues – Global Health News Wire

April 10, 2020 medical

Researchers at CHOP and University of Pennsylvania developed an online tool to refine results from RNA sequencing obtained from clinically accessible tissues

DNA sequencing is becoming a more commonplace method for detecting diseases and improving precision medicine. Because DNA sequencing does not detect all possible disease-causing mutations, RNA sequencing is often used to address this important gap. However, RNA sequencing is typically performed on clinically-accessible tissues from blood and skin and likely does not represent a complete view of the rest of the body.

Hoping to refine the usefulness of RNA sequencing, a team of researchers from Childrens Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania reviewed a database of RNA sequencing results in non-clinically-accessible tissues from organs like the brain and heart. This helped them identify differences between tissues that were well expressed to help identify when clinically-accessible tissues like blood and skin samples are most useful and when they are not. To aid future sequencing and aid diagnosis, the study team also developed an online resource outlining how these differences affect specific tissues and genes of interest. The findings were published in the journal Genetics in Medicine.

Researchers continue to improve the ability of sequencing tests to detect genetic mutations that drive disease. Exome sequencing captures about 31% of inherited genetic disorders, and genome sequencing improves this rate somewhere between 10% and 15%, meaning that the majority of patients who receive this screening will not receive a proper molecular diagnosis. One of the primary difficulties is the number of non-coding variants these tests capture. These variants are capable of causing disease, but they are difficult to predict and therefore often ignored by existing diagnostic techniques.

One way these variants can cause problems is their ability to alter RNA splicing, or the process by which non-coding parts of genes are removed so that only the coding portions are available to create necessary proteins. Therefore, variants that affect RNA splicing can alter the function of essential proteins, which can lead to disease. RNA sequencing can help detect these variants and add to the knowledge gleaned from exome and genome sequencing. However, RNA sequencing is complicated because the gene must be expressed in the tissue of interest, and often those tissues are not accessible.

We know that we are unable to test tissues in the brain, heart and certain other organs for diagnostic purposes, but we also know that using RNA sequencing on these tissues could reveal important genetic information we might not otherwise be able to capture, said Elizabeth Bhoj, MD PhD, an attending physician with the Division of Human Genetics at CHOP, an assistant professor of pediatrics at the Perelman School of Medicine, and senior co-author of the study. By studying both clinically- and non-clinically-available tissues, we hoped this study would reveal the true extent of what we may be missing with current RNA sequencing methods.

The study team quantified RNA splicing in 801 RNA-sequenced samples from 56 different adult and fetal tissues. Genes and splicing events were identified by the team in each non-clinically-available tissue, which then allowed the researchers to determine when RNA sequencing in each clinically-available tissue actually inadequately represents them. The team then developed its own online resource, MAJIQ-CAT, so that others could explore their analysis for specific genes and tissues.

The researchers found that 40.2% of non-clinically-available tissues have RNA splicing that is inadequately represented in at least one clinically-available tissue, and 6.3% of genes have splicing inadequately represented by all clinically-available tissues. While a majority (52.1%) of these genes have low expression in clinically-available tissues, the study team showed that 5.8% are inadequately represented despite being well-expressed, thereby representing a significant portion of genes of interest not being properly captured by traditional RNA sequencing methods.

By using MAJIQ-CAT, researchers can determine which accessible tissues, if any, best represent RNA splicing in genes and tissues of interest, Bhoj said. While this does not address the entire gap left by current exome and genome sequencing methods, we believe we can capture more genes and determine how they affect human health.

The research team drew from their diverse scientific backgrounds for this study to improve clinical diagnosis. Bhoj and her lab provided expertise in genetics and clinical diagnostics with the computational expertise of the lab of Yoseph Barash, PhD, an associate professor in the Department of Genetics at Penn. The work was led by Joseph Aicher, an MD/PhD student in the Genomics and Computational Biology program at Penn who was co-mentored by Bhoj and Barash.

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Genetics

Here’s how scientists are tracking the genetic evolution of COVID-19 – TheStreet

April 10, 2020 medical

Niema Moshiri, University of California San Diego

When you hear the term evolutionary tree, you may think of Charles Darwin and the study of the relationships between different species over the span of millions of years.

While the concept of an evolutionary tree originated in Darwins On the Origin of Species, one can apply this concept to anything that evolves, including viruses. Scientists can study the evolution of SARS-CoV-2 to learn more about how the genes of the virus function. It is also useful to make inferences about the spread of the virus around the world, and what type of vaccine may be most effective.

I am a bioinformatician who studies the relationships between epidemics and viral evolution, and I am among the many researchers now studying the evolution of SARS-CoV-2 because it can help researchers and public health officials track the spread of the virus over time. What we are finding is that the SARS-CoV-2 virus appears to be mutating more slowly than the seasonal flu which may allow scientists to develop a vaccine.

Viruses evolve by mutating. That is, there are changes in their genetic code over time. The way it happens is a little like that game of telephone. Amy is the first player, and her word is CAT. She whispers her word to Ben, who accidentally hears MAT. Ben whispers his word to Carlos, who hears MAD. As the game of telephone goes on, the word will transform further and further away from its original form.

We can think of a biological genetic material as a sequence of letters, and over time, sequences mutate: The letters of the sequence can change. Scientists have developed various models of sequence evolution to help them study how mutations occur over time.

Much like our game of telephone, the genome sequence of the SARS-CoV-2 virus changes over time: Mutations occur randomly, and any changes that occur in a given virus will be inherited by all copies of the next generation. Then, much as we could try to decode how CAT became MAD, scientists can use models on genetic evolution to try to determine the most likely evolutionary history of the virus.

DNA sequencing is the process of experimentally finding the sequence of nucleotides (A, C, G and T) the chemical building blocks of genes of a piece of DNA. DNA sequencing is largely used to study human diseases and genetics, but in recent years, sequencing has become a routine part of viral point of care, and as sequencing becomes cheaper and cheaper, viral sequencing will become even more frequent as time progresses.

RNA is a molecule similar to DNA, and it is essentially a temporary copy of a short segment of DNA. Specifically, in the central dogma of biology, DNA is transcribed into RNA. SARS-CoV-2 is an RNA virus, meaning our DNA sequencing technologies cannot directly decode its sequence. However, scientists can first reverse transcribe the RNA of the virus into complementary DNA (or cDNA), which can then be sequenced.

Given a collection of viral genome sequences, we can use our models of sequence evolution to predict the viruss history, and we can use this to answer questions like, How fast do mutations occur? or Where in the genome do mutations occur? Knowing which genes are mutating frequently can be useful in drug design.

Tracking how viruses have changed in a location can also answer questions like, How many separate outbreaks exist in my community? This type of information can help public health officials contain the spread of the virus.

For COVID-19, there has been a global initiative to share viral genomes with all scientists. Given a collection of sequences with sample dates, scientists can infer the evolutionary history of the samples in real-time and use the information to infer the history of transmissions.

One such initiative is Nextstrain, an open-source project that provides users real-time reports of the spread of seasonal influenza, Ebola and many other infectious diseases. Most recently, it has been spearheading the evolutionary tracking of COVID-19 by providing a real-time analysis as well as a situation report meant to be readable by the general public. Further, the project enables the global population to benefit from its efforts by translating the situation report to many other languages.

As the amount of available information grows, scientists need faster tools to be able to crunch the numbers. My lab at UC San Diego, in collaboration with the System Energy Efficiency (SEE) Lab led by Professor Tajana imuni? Rosing, is working to create new algorithms, software tools and computer hardware to make the real-time analysis of the COVID-19 epidemic more feasible.

Based on current data, it seems as though SARS-CoV-2 mutates much more slowly than the seasonal flu. Specifically, SARS-CoV-2 seems to have a mutation rate of less than 25 mutations per year, whereas the seasonal flu has a mutation rate of almost 50 mutations per year.

Given that the SARS-CoV-2 genome is almost twice as large as the seasonal flu genome, it seems as though the seasonal flu mutates roughly four times as fast as SARS-CoV-2. The fact that the seasonal flu mutates so quickly is precisely why it is able to evade our vaccines, so the significantly slower mutation rate of SARS-CoV-2 gives us hope for the potential development of effective long-lasting vaccines against the virus.

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Niema Moshiri, Assistant Teaching Professor of Computer Science & Engineering, University of California San Diego

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

Genetics

ACMG and ABMGG Collaborate to Provide Trainees and Genetic Counseling Students Complimentary Access to Online Medical Genetics Education Courses…

April 10, 2020 medical

BETHESDA, Md., April 10, 2020 /PRNewswire/ -- The American College of Medical Genetics and Genomics (ACMG) and the American Board of Medical Genetics and Genomics (ABMGG) recognize that medical genetics and genomics trainees and genetic counseling students are experiencing unprecedented challenges due to the COVID-19 pandemic. Many are unable to engage in planned educational activities necessary to meet training program requirements.

In an effort to help lighten this burden and to provide top-quality online educational opportunities to those who may be either quarantined or must work from home,the ACMG and the ABMGG are collaborating to provide complimentary access to educational programming for clinical genetics residents, laboratory genetics fellows and genetic counseling students.

ACMG President Anthony R. Gregg, MD, MBA, FACOG, FACMG said, "As the COVID-19 pandemic challenges each of us to adapt, ACMG looks forward to providing high-quality educational materials at no charge to trainees and genetic counseling students. At ACMG we value education. It is a core member service. If you are a trainee whose education is threatened by COVID-19, we will help you beat that threat. This makes perfect sense - if you are a trainee or student - you are us!"

"Optimal patient care begins with optimal education of trainees in medical genetics and genomics in training programs across the country," said Max Muenke, MD, FACMG, chief executive officer of the ACMG. "We at the College have a passion for education. At a time of COVID-19 where most trainees are working from home, we are happy to offerfree of chargea number of online courses and lectures to genetic counseling graduate students, residents in clinical genetics and genomics, and fellows in all laboratory specialties of genetics and genomics."

Medical genetics and genomics residents and lab fellows, as well as genetic counseling students, will be able to access an extensive, curated collection of educational content online at the ACMG Genetics Academy at http://www.acmgeducation.netIndividuals must attest that they are current trainees in an ACGC-, ACGME- or ABMGG-accredited training program.

Miriam Blitzer, PhD, FACMG, CEO of the ABMGG, commented, "The ABMGG recognizes that current circumstances surrounding COVID-19 are impacting trainees and have disrupted required training. We are excited that ACMG is offering access to excellent educational activities to allow for continued learning during this time."

ACMG's "Curated Collection of Educational Resources for Genetics and Genomics Residents, Trainees and Genetic Counseling Students" will include:

Individuals who complete coursework through the ACMG Genetics Academy will obtain a certificate of completion. ACMG and ABMGG both commit to providing these free educational resources until September 1, 2020.

Staying current on advances in medical genetics and genomics is more important than ever. ACMG and ABMGG wish the next generation of the medical genetics healthcare team strength, resilience and good health as we work together to fight the pandemic and to care for patients and families. We appreciate your commitment to caring for patients whether you are in the lab, the clinic, providing telegenetics services, or serving your patients and communities in other ways. Our primary concern, now and always, is for the health, safety and well-being of healthcare providers, patients, students and the communities we serve.

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About the American College of Medical Genetics and Genomics (ACMG) and ACMG Foundation

Founded in 1991, the American College of Medical Genetics and Genomics (ACMG) is the only nationally recognized medical society dedicated to improving health through the clinical practice of medical genetics and genomics and the only medical specialty society in the US that represents the full spectrum of medical genetics disciplines in a single organization. The ACMG is the largest membership organization specifically for medical geneticists, providing education, resources and a voice for more than 2,400 clinical and laboratory geneticists, genetic counselors and other healthcare professionals, nearly 80% of whom are board certified in the medical genetics specialties. ACMG's mission is to improve health through the clinical andlaboratory practice of medical genetics as well as through advocacy, education and clinical research, and to guide the safe and effective integration of genetics and genomics into all of medicine and healthcare, resulting in improved personal and public health. Four overarching strategies guide ACMG's work: 1) to reinforce and expand ACMG's position as the leader and prominent authority in the field of medical genetics and genomics, including clinical research, while educating the medical community on the significant role that genetics and genomics will continue to play in understanding, preventing, treating and curing disease; 2) to secure and expand the professional workforce for medical genetics and genomics; 3) to advocate for the specialty; and 4) to provide best-in-class education to members and nonmembers. Genetics in Medicine, published monthly, is the official ACMG journal. ACMG's website (www.acmg.net) offers resources including policy statements, practice guidelines, educational programs and a 'Find a Genetic Service' tool. The educational and public health programs of the ACMG are dependent upon charitable gifts from corporations, foundations and individuals through the ACMG Foundation for Genetic and Genomic Medicine.

About the American Board of Medical Genetics and Genomics

The American Board of Medical Genetics and Genomics (ABMGG) is an independent nonprofit organization whose mission is to serve the public and medical profession by establishing professional certification standards and promoting lifelong learning, as well as excellence in medical genetics and genomics. Established in 1980, the ABMGG is one of the 24 certifying boards of the American Board of Medical Specialties (ABMS). For more information, visit http://www.abmgg.org.

Kathy Moran, MBAkmoran@acmg.net

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Genetics

Resurrected greenhouse to honor father of modern genetics – Inhabitat

April 10, 2020 medical

International architecture and urban design practiceCHYBIK + KRISTOF has unveiled designs for an energy-efficient greenhouse to commemorate Gregor Mendel, a scientist and Augustinian friar regarded as the founder of the modern science of genetics. Set on the foundations of the 19th-century Brno greenhouse where Mendel conducted his pioneering experiments, the new greenhouse will pay homage to the original architecture and Mendels teachings. The greenhouse is slated for completion in 2022 to commemorate Mendels birth 200 years ago.

Born in 1822, Gregor Mendel spent eight seasons, from 1856 to 1863, cultivating and breeding pea plants in a 19th-centurygreenhousethat had been built in the St. Thomas Augustinian Abbeys gardens to cement the monastery as a leading center for scientific research. In 1870, however, a storm destroyed the building, leaving only its foundations intact today. The experiments that Mendel had conducted within the greenhouse are now widely recognized as the foundation of modern genetics.

CHYBIK + KRISTOFs resurrection of the historic greenhouse begins with the preservation of the foundations that will be integrated into the new structure and left visible. The foundations will inform the orientation and shape of the greenhouse, which will be reminiscent of the original building. While the trapezoidal volume is identical to the original edifice, the reimagined supporting steel structure seeks inspiration from Mendels three laws of inheritance and the drawings of his resulting heredity system, explained the architects. Likewise, the pitched roof, consisting of a vast outer glass surface, reflects his law of segregation and the distribution of inherited traits, and is complemented by a set of modular shades.

Related: Kuehn Malvezzi tops a brick office building in Germany with an energy-efficient greenhouse

In addition to celebrating Mendels work, the revived structure will primarily be used as a flexible events space that can adapt to a variety of functions, from conferences and lectures to temporary exhibitions. The flexible design will also be entirely exposed to the outdoors. For energy efficiency, the architects have integrated a concealed system of underground heat pumpsinto the greenhouse, as well as adjustable shades and embedded blinds to facilitate natural cooling and ventilation.

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Images by monolot and CHYBIK + KRISTOF

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Resurrected greenhouse to honor father of modern genetics - Inhabitat

Genetics

Genetic Testing Reveals the True Nature of Coffee Varieties – Daily Coffee News

April 9, 2020 medical

One of the hallmarks of the single-origin specialty coffee movement has been an appreciation for specific varieties within the arabica species of coffee.

Like the Pinot Noir or Cabernet Sauvignon varieties to wine, coffee varieties such as Bourbon, Pacamara or Gesha are not merely used as identifiers; theyre also employed as marketing terms. But what if that 91-point Gesha in your cup is actually a 91-point something else? Heaven forbid.

Research released last month that used genetic fingerprinting to determine the veracity of genetic labeling of thousands of coffee plant suggests the mis-identification of varieties on farms and even in nurseries may be widespread.

DNA fingerprinting provides different actors in the coffee sector with a powerful new tool farmers can verify the identity of their cultivated varieties, coffee roasters can be assured that marketing claims related to varieties are correct, and most of all, those looking to establish a more professional and reliable coffee seed sector have a reliable new monitoring tool to establish and check genetic purity of seed stock and nursery plants, the authors of the open-access study in the in theJournal of AOAC International.

Behind the study is the Portland, Oregon-based nonprofit World Coffee Research, which it should be noted has a vested interest in promoting this type of DNA fingerprinting. The group launched a DNA fingerprinting service for the authentication of arabica coffee in 2017, and charges $130 per sample.

For the newly published study, researchers applied the DNA fingerprint testing to more than 2,500 coffee samples in its database, which came from numerous sources, including WCRs core collection and anonymized samples sent by individuals. Samples originated from coffee-growing countries all over the world.

In one of the starkest examples of genetic nonconformity, only 39% of the 88 samples identified as the famous Gesha variety (often written as Geisha elsewhere) were found to truly be Gesha.

Researchers noted incidental cross-pollination on the farm as a potential likely route to genetic ambiguity on farms and in nurseries.

Experience with the WCR genetic database points to the conclusion that a recently selected variety in a region with a relatively organized research and nurseries network exhibit higher genetic conformity, the authors wrote. The best example of this currently is the Marsellesa variety, with 91% of genetic conformity. However, when varieties are older and/or the research and nurseries network is poorly organized, the percentage of genetic conformity can drastically decrease.

See the full open-access study here.

SOPHiA GENETICS Expands Its Executive Team, Naming Lara Hashimoto Chief Business Officer – PRNewswire

April 9, 2020 medical

Lara Hashimoto joined the healthcare industry 20 years ago holding several leadership roles spanning Pharma clinical drug development, sales and marketing before moving toRoche Diagnostics. Here, she held a number of roles responsible for IVD development and commercialization, including the launch of the Oncology companion diagnostics portfolio. Her most recent position before joining SOPHiA GENETICS was Chief Commercial Officer for Roche Sequencing Solutions.

"Lara is a stellar addition to our successful team. She shares the company's vision regarding multi-modal data approaches and the optimization of drug development and has made it her mission to help improve patients' lives. Lara will greatly further our efforts to democratize Data-Driven Medicine worldwide," said Jurgi Camblong, Founder and CEO of SOPHiA GENETICS.

"I believe the future in healthcare will be increasingly individualized with significantly improved outcomes through the application of multi-modality prediction modelling," said Hashimoto. "SOPHiA GENETICS is best positioned to drive this transformation."

About SOPHiA GENETICS

SOPHiA GENETICS is a health tech company democratizing Data-Driven Medicine to improve health outcomes and economics worldwide. By unlocking the power of new-generation health data for cancer and rare disease management, the universal SOPHiA Platform allows clinical researchers to act with precision and confidence. The company's innovative approach enables an ever-expanding community of over 1,000 institutions to benefit from knowledge sharing, fostering a new era in healthcare. SOPHiA's achievement is recognized by the MIT Technology Review's "50 Smartest Companies."

More info: SOPHiAGENETICS.COM, follow @SOPHiAGENETICS on Twitter.

USA Media Contact: Don Granese [emailprotected] Tel: +1-857-263-7972

Global Media Contact: Sophie Reymond[emailprotected] Tel: +41-79-784-63-76

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Genetics

The PBS documentary The Gene showcases genetics promise and pitfalls – Science News

April 8, 2020 medical

The genetic code to alllife on Earth, both simple and complex, comes down to four basic letters: A, C,T and G.

Untangling the role thatthese letters play in lifes blueprint has allowed scientists to understandwhat makes everything from bacteria to people the way they are. But as researchershave learned more, they have also sought ways to tinker with this blueprint,bringing ethical dilemmas into the spotlight. The Gene, a two-part PBS documentary from executive producer Ken Burnsairing April 7 and 14, explores the benefits and risks that come withdeciphering lifes code.

The film begins with oneof those ethical challenges. The opening moments describe how biophysicist HeJiankui used the gene-editing tool CRISPR/Cas9 to alter the embryos of twin girls who were born in China in 2018 (SN: 12/17/18). Worldwide, criticscondemned the move, claiming it was irresponsible to change the girls DNA, asexperts dont yet fully understand the consequences.

This moment heraldedthe arrival of a new era, narrator David Costabile says. An era in whichhumans are no longer at the mercy of their genes, but can control and evenchange them.

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The story sets the stagefor a prominent theme throughout the documentary: While genetics holdsincredible potential to improve the lives of people with genetic diseases,there are always those who will push science to its ethical limits. But thedriving force in the film is the inquisitive nature of the scientistsdetermined to uncover what makes us human.

The Gene, based on the book of the same name by Siddhartha Mukherjee (SN:12/18/16), one of the documentarys executive producers, highlights many ofthe most famous discoveries in genetics. The film chronicles Gregor Mendels classicpea experiments describing inheritance and how experts ultimately revealed inthe 1940s that DNA a so-called stupid molecule composed of just four chemicalbases, adenine (A), thymine (T),cytosine (C) and guanine (G) is responsible for storing geneticinformation. Historical footage, inBurns typical style, brings to life stories describing the discovery of DNAshelical structure in the 1950s and the success of the Human Genome Project indecoding the human genetic blueprint in 2003.

The film also touches ona few of the ethical violations that came from these discoveries. The eugenicsmovement in both Nazi Germany and the United States in the early 20th century aswell as the story of the first person to die in a clinical trial for genetherapy, in 1999, cast a morbid shadow on the narrative.

Interwoven into thistimeline are personal stories from people who suffer from genetic diseases.These vignettes help viewers grasp the hope new advances can give patients asexperts continue to wrangle with DNA in efforts to make those cures.

In the documentarysfirst installment, which focuses on the early days of genetics, viewers meet a family whose daughter is grappling with arare genetic mutation that causes her nerve cells to die. The family searchesfor a cure alongside geneticist Wendy Chung of Columbia University. The secondpart follows efforts to master the human genome and focuses on AudreyWinkelsas, a molecular biologist at the National Institutes of Health studyingspinal muscular atrophy, a disease she herself has, and a family fighting tosave their son from a severe form of the condition.

For science-interested viewers, the documentary does not disappoint. The Gene covers what seems to be every angle of genetics history from the ancient belief that sperm absorbed mystical vapors to pass traits down to offspring to the discovery of DNAs structure to modern gene editing. But the stories of the scientists and patients invested in overcoming diseases like Huntingtons and cancer make the film all the more captivating.

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Genetics

The Gene | Part 1: Dawn of the Modern Age of Genetics – PBS

April 8, 2020 medical

Funding for KEN BURNS PRESENTS THE GENE: AN INTIMATE HISTORY has been provided by Genentech, 23andMe, Cancer Treatment Centers of America, Alfred P. Sloan Foundation, Gray Foundation, American Society of Clinical Oncology (ASCO) & Conquer Cancer Foundation, Judy and Peter Blum Kovler Foundation, Craig and Susan McCaw Foundation, and the Corporation for Public Broadcasting. The Outreach and Education Partner is National Institutes of Health, National Human Genome Research Institute. Outreach support is provided by Foundation Medicine.

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Genetics

Here’s how scientists are tracking the genetic evolution of COVID-19 – The Conversation US

April 6, 2020 medical

When you hear the term evolutionary tree, you may think of Charles Darwin and the study of the relationships between different species over the span of millions of years.

As the amount of available information grows, scientists need faster tools to be able to crunch the numbers. My lab at UC San Diego, in collaboration with the System Energy Efficiency (SEE) Lab led by Professor Tajana imuni Rosing, is working to create new algorithms, software tools and computer hardware to make the real-time analysis of the COVID-19 epidemic more feasible.

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Here's how scientists are tracking the genetic evolution of COVID-19 - The Conversation US