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Mice with Hyper-Long Telomeres Show Less Metabolic Aging and Longer Lifespans; Scientists Generate Mice Having 100% of Their Cells with Hyper-Long Telomeres: Results Said to be “Unprecedented”

A chance finding ten years ago led to the creation by researchers of the Spanish National Cancer Research Centre (CNIO) of the first mice born with much longer telomeres than normal in their species. Given the relationship between telomeres and aging (telomeres shorten throughout life, so older organisms have shorter telomeres), scientists launched a study generating mice in which 100% of their cells had hyper-long telomeres. The findings were published online on October 17, 2019, in Nature Communications (https://www.nature.com/articles/s41467-019-12664-x) and show only positive consequences: the animals with hyper-long telomeres live longer in better health, free from cancer and obesity. The most relevant result for the authors is that longevity has been significantly increased for the first time ever without any genetic modification. "This finding supports the idea that, when it comes to determining longevity, genes are not the only thing to consider,” indicates Maria Blasco (https://www.cnio.es/en/personas/maria-a-blasco-2/) (https://en.wikipedia.org/wiki/Mar%C3%ADa_Blasco_Marhuenda), PhD, Head of the CNIO Telomeres and Telomerase Group at CNIO, Director of the Spanish National Centre for Cancer Research, and intellectual author of the paper. "There is margin for extending life without altering the genes.” The open-access article is titled “Mice with Hyper-Long Telomeres Show Less Metabolic Aging and Longer Lifespans.” Telomeres form the end of chromosomes, in the nucleus of each cell in the body. Their function is to protect the integrity of the genetic information in DNA. Whenever the cells divide the telomeres are shortened a little bit, so one of the main characteristics of aging is the accumulation of short telomeres in cells.

Researchers Develop Mouse Model Incorporating Human Gene (MAPT) Involved in Alzheimer’s Disease

In research that helps scientists better understand and explore treatments for diseases like Alzheimer’s, scientists have developed a line of mice in which the mouse version of the Alzheimer’s-associated MAPT gene has been fully replaced by the human version of the gene. In this new animal model, known as a full-gene-replacement model, the MAPT gene will function the same way it does in humans, allowing researchers to more accurately develop and evaluate genetic therapies. The research was presented on October 16 at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas (October 15-19). The presentation abstract is titled “Moving Human Genetics into the Mouse: Full Human Gene-Replacement Models.” Scientists have long studied human genes in mice and other animal models, usually by finding and manipulating the animal’s version of the human gene being studied, explained Michael Koob, PhD, Associate Professor at the University of Minnesota, who presented the work. “However, mice have different genes than people, and even if the gene’s function is the same, its sequence is different,” Dr. Koob said. For this reason, animal model work typically involves a great deal of trial and error, and it requires researchers to make assumptions about why and how a genetic change leads to the observed changes. In addition, drawing conclusions about the role of the human version of the gene in humans – and building on this knowledge by developing therapies – is difficult and prone to error, and the findings do not always translate.

Quantifying Hispanic and Latinx Populations' Interest in Genetic Research Participation

Researchers are increasingly prioritizing the need for diversity in genetics and genomics research. To help make such studies more inclusive, José G. Pérez-Ramos, MPH, and Timothy D.V. Dye, PhD, research scientists at the University of Rochester in New York. examined Hispanic and Latinx populations’ desire to participate in genomics research. Mr. Pérez-Ramos presented the findings on October 16 at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas (October 15-19). The presentation abstract is titled “Variation in Intention to Participate in Genetic Research Among Hispanic/Latinx Populations by Latin America Birth-Residency Concurrence: A Global Study. “We were interested in the determinants for people to participate in genetic research,” said Dr. Dye, principal investigator on the study. “Not only is representation in research important for accuracy of results, but it also helps improve distributional justice. If Hispanic and Latinx people are not represented, then there’s no possibility of them benefitting from all of the important genetics research that’s happening.” Mr. Pérez-Ramos and colleagues surveyed 1,718 individuals from 69 countries; among whom, 251 participants self-identified as Hispanic or Latin American and Caribbean (LAC). When measured as a single group, Hispanic and LAC people were as willing to participate in genomics research studies, and felt as positively about their impact, as other groups. However, when the participants of Hispanic and LAC ancestry were segmented further by country of birth and residence, there were noticeable differences in attitudes toward, and interest in, genetic research participation.

New Human Reference Genome Resources Help Capture Global Genetic Diversity

Scientists have assembled a set of genetic sequences that enable the reference genome to better reflect global genetic diversity. The new sequences improve the utility of the human reference genome, a touchstone resource for modern genetics and genomics research, and these sequences were presented at the American Society of Human Genetics (ASHG) 2019 Annual Meeting in Houston, Texas. The presentation was titled “Constructing a Reference Genome That Captures Global Genetic Diversity for Improved Interpretation of Whole Genome Sequencing Data,” and the abstract is available online at https://eventpilotadmin.com/web/page.php?page=IntHtml&project=ASHG19&id=.... When the Human Genome Project was completed in 2003, its signature achievement was the human reference genome, a set of DNA sequences that serves as a structure and representative example of the complete set of human genes. For areas of the genome where there is little variation among different people, the reference genome is an important resource that has helped move forward efforts in gene sequencing, genome-wide association studies, and protein characterization. Because almost all genetic sequencing experiments rely on the human reference genome, there is a pressing need to improve the reference to better capture the diversity found in different human populations, explained Karen Wong (photo), BS, a graduate student in Professor Pui-Yan Kwok’s laboratory at the University of California, San Francisco (UCSF), who presented the research. A more representative reference would benefit scientists using the millions of existing sequencing datasets, as well as future sequencing studies.

“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 (https://eventpilotadmin.com/web/page.php?page=IntHtml&project=ASHG19&id=...) 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.

Koala Epidemic Provides Lesson on How DNA Protects Itself from Viruses

In animals, infections are fought by the immune system. Studies on an unusual virus infecting wild koalas, by a team of researchers from the University of Massachusetts Medical School and the University of Queensland, reveal a new form of "genome immunity." The study was published online on October 10, 2019 in Cell. The open-access article is titled “The piRNA Response to Retroviral Invasion of the Koala Genome.” Retroviruses, including pathogens like HIV, incorporate into the chromosomes of host cells as part of their infectious lifecycle. Retroviruses don't usually infect the germ cells that produce sperm and eggs and, therefore, are not usually passed from generation to generation, but this has happened several times during evolution. Of the entire 3 billion nucleotides of the human genome, only 1.5% of the sequence forms the 20,000 genes that code for proteins - and 8% of the human genome comes from fragments of viruses. These pathogen invasions of the genome have sometimes been beneficial. For example, a gene "co-opted" from a virus is required for formation of the placenta in all mammals, including humans. Retroviral infection of germ cells has been a rare, but important, driving force in human evolution. But how the germ cells in mammals respond to pathogen invasion has not been previously described and might be quite different than what happens in other cells of the body. KoRV-A is a retrovirus sweeping through the wild koala population of Australia and it is associated with susceptibility to infection and cancer. KoRV-A spreads between individual animals, like most viruses. Surprisingly, KoRV-A also infects the germline cells, and most wild koalas are born with this pathogen as part of the genetic material of every cell in the body. The team used this system to see how germ cells respond to a retrovirus.

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