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Archive - Oct 15, 2019


“Resurrection” of 50,000-Year-Old Gene Reveals How Malaria Parasite Jumped from Gorillas to Humans

For the first time, scientists have uncovered the likely series of events that led to the world’s deadliest malaria parasite being able to jump from gorillas to humans. Researchers at the Wellcome Sanger Institute in the UK and the University of Montpellier in France reconstructed an approximately 50,000-year-old gene sequence that was acquired by the ancestor of Plasmodium falciparum, giving it the ability to infect human red blood cells. The researchers found that this rh5 gene enabled the parasite to infect both gorillas and humans for a limited time, explaining how the jump was made at a molecular level. The team also identified the specific DNA mutation that subsequently restricted P. falciparum to humans. The study, published on October 15, 2019 in PLOS Biology, provides a plausible molecular explanation for how one of the world’s most deadly infectious diseases came to infect humans, and will be important more generally for understanding how pathogens are able to jump from one species to another. The open-access article is titled “Resurrection of the Ancestral RH5 Invasion Ligand Provides a Molecular Explanation for the Origin of P. Falciparum Malaria In Humans.” Malaria remains a major global health problem causing an estimated 435,000 deaths per year, with 61 per cent occurring in children under five years of age. P. falciparum is the species of parasite that is responsible for the most deadly form of malaria and is particularly prevalent in Africa, where it accounted for 99.7 per cent of malaria cases in 2017. P. falciparum is one of seven species of parasite that can cause malaria in a family known as the Laverania.

Researchers Glean New Insights into Biological Underpinnings of Schizophrenia; Ten Risk Genes Implicated

Researchers have implicated 10 risk genes in the development of schizophrenia using a method called whole exome sequencing, the analysis of the portion of DNA that codes for proteins. Working with a global consortium of schizophrenia research teams, Tarjinder Singh, PhD, a postdoctoral fellow affiliated with the Stanley Center for Psychiatric Research at Broad Institute of MIT and Harvard, Massachusetts General Hospital, and Harvard Medical School, and colleagues completed one of the largest of such studies so far, incorporating genetic data from over 125,000 people to gain deeper insights into the genetic underpinnings of schizophrenia. The research was presented on October 15 as a featured plenary presentation ( at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas (October 15-19). The presentation was titled “Exome Sequencing of 25,000 Schizophrenia Cases and 100,000 Controls Implicates 10 Risk Genes, and Provides Insight into Shared and Distinct Genetic Risk and Biology with Other Neurodevelopmental Disorders.” “The main aim of our research is to understand the genetic causes of schizophrenia and motivate the development of new therapeutics,” said Dr. Singh. “Drug development for schizophrenia has had limited progress in the last 50 years, but, in the last decade, we have started to make genetic discoveries that help us better understand the mechanisms underlying the disorder.”

Sequencing African Genomes Yields New Data Resource with Broad Applicability

By collaborating globally in a new, large-scale effort, researchers have made strong progress in sequencing genomes from regions and countries across Africa. These findings will enable more broadly representative and relevant studies ranging from basic through clinical genetics. The researchers' new data and preliminary observations were presented as a featured plenary abstract at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston. The abstract is titled “High-Depth Genome Sequencing in Diverse African Populations Reveals the Impact of Ancestral Migration, Cultural Demography, and Infectious Disease on the Human Genome.” "There is a dearth of baseline genetic data for African populations," said Neil Hanchard, MD, DPhil, Assistant Professor at the Baylor College of Medicine, who presented the work. As part of the Human Heredity and Health in Africa (H3Africa) Consortium, a collaborative effort supported by the National Institutes of Health to conduct genomic research in Africa, Dr. Hanchard and his colleagues sequenced the whole genomes of 426 individuals from 13 African countries, whose ancestries represented 50 ethnolinguistic groups from across the continent. Of the 426 genomes sequenced, 320 were analyzed at high depth. This allowed the researchers to examine rare genetic variants in an accurate and quantifiable way, in addition to the common variants that have been the focus of most of the previous genetic studies in Africans, Dr. Hanchard explained.

Genomenon’s Mastermind to be Integrated into SOPHiA Platform; Genomic Search Engine to Provide Direct Links to Genomic Evidence in SOPHiA’s Solutions; Combination Should Enable Much Faster, More Thorough, More Democratized Genomic Analysis

On October 15, 2019, at the American Society of Human Genetics Annual Meeting (ASHG) 2019 annual meeting, Genomenon® announced a partnership with SOPHiA GENETICS that includes incorporating the Genomenon’s Mastermind® Genomic Search Engine into the SOPHiA Platform and the Alamut Suite. The partnership puts the most up-to-date genomic research at the fingertips of clinical researchers performing genomic analysis worldwide. The SOPHiA Platform is the technology of choice for streamlined Data-Driven Medicine, including clinical-grade genomic analysis, interpretation, and reporting. SOPHiA has been adopted by 1,000 healthcare institutions to date, and has analyzed over 420,000 genomic profiles, with 16,000 new profiles processed each month. The Alamut Suite, which is powered by SOPHiA, is a decision-support software designed to explore and investigate variations of the human genome. Alamut helps clinical researchers in the complex tasks of genomic variants annotations, filtration, and exploration. With the addition of Mastermind, users of both technologies will be able to quickly access the genomic evidence associated with human variants, shortening the search time required to interpret a variant and assess its pathogenicity. This partnership will allow SOPHiA’s users to see a wider picture of the detected variants. A key driver in the decision is the breadth and depth of Mastermind’s coverage of genomic variants and published literature. Mastermind has indexed over 7 million full-text articles and 600,000 supplemental data sets and covers over 5.7 million variants found in the medical literature. “This partnership will help experts better and more quickly assess the impact of accurately detected genomic variants in a clinical context.

American Society of Human Genetics (ASHG) Annual Meeting Opens in Houston, Texas; Meeting Highlights Discoveries in Genetic Research & Progress to Improve Health &Treat Disease; Thousands Attend from Around the World

Thousands of genomics and genetics researchers, professors, doctors, genetic counselors, nurses, and others from around the world will gather in Houston, Texas, October 15-19, for ASHG 2019, to share their latest research about the benefits of human genetics and genomics research, one of the fastest-growing fields of modern health care development. ASHG 2019, the annual meeting of the American Society of Human Genetics (ASHG), is the world’s largest source of emerging news and cutting-edge science across the rapidly expanding fields of human genetics and genomics. Scientists from nearly 80 countries will take part in more than 3,400 scientific presentations, workshops, and collaborative events. This will be the first time that Houston has hosted ASHG’s annual meeting since the organization was founded in 1948. Hosting ASHG 2019 in Houston, a major epicenter of biomedical and life sciences, offers ASHG and its members an outstanding venue to inform the general public of new scientific knowledge that is changing the way we diagnose and treat disease, understand human history, and unravel fundamental biologic mysteries. It comes at a time when Houston’s position as an international leader in biomedical research is growing rapidly and will expand with the construction of a collaborative 30-acre biomedical research campus downtown. “The remarkable research that we will see at this meeting is transforming our knowledge about the role of genetics in human health and, increasingly, our ability to improve treatments and outcomes,” ASHG President Dr. Leslie G. Biesecker said. “This scientific progress will be on display in Bayou City and will demonstrate the essential role of robust funding for biomedical research to further revolutionize health care and successful treatments.