Researchers pinpoint origin of sickle cell mutation
NHGRI researchers used whole genome sequence data to pinpoint the single origin of the sickle cell mutation to the "wet" period of the Sahara 7,300 years ago. The mutation causes blood hemoglobin to be crescent shaped, reducing its ability to carry oxygen. Charles N. Rotimi, Ph.D., study co-author and NHGRI senior investigator, said the finding overturns previous theories that the mutation arose in multiple locations. This will help clinicians redefine sickle cell subgroups and treat patients more effectively, said lead author Daniel Shriner, Ph.D. Read more in the March 8American Journal of Human Genetics. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 8, 2018 Category: Genetics & Stem Cells Source Type: news
Developing a 2020 Vision for Genomics: NHGRI Launches New Round of Strategic Planning
This month'sThe Genomics Landscape features stories about NHGRI's new round of strategic planning to establish a 2020 vision for genomics; NHGRI's participation in the Americal Association for the Advancement of Science (AAAS) Annual Meeting Family Science Days; a new genomics resource for American Indian and Alaska Native Communities and new NIH Common Fund Programs such as the Human BioMolecular Atlas Program (HuBMAP) and the Somatic Cell Genome Editing program. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 8, 2018 Category: Genetics & Stem Cells Source Type: news
The 2018 Jeffrey M. Trent Lecture in Cancer Research
NHGRI's Division of Intramural Research will present the 14th Jeffrey M. Trent Lecture in Cancer Research on March 15, 2018, 12:00 - 1:00 p.m., at the Lipsett Amphitheater, Building 10 (Clinical Center), on the National Institutes of Health Bethesda campus. Joan Brugge, Ph.D., co-director, Ludwig Center at Harvard Medical School, will deliver the lectureRole of the TRPA1 Ca2+-permeable Channel in Oxidative Stress Defenses in Cancer. Video of this event will be available soon. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 6, 2018 Category: Genetics & Stem Cells Source Type: news
NIH researchers highlight virtual reality research on Reddit
Virtual Reality (VR) is a rapidly expanding area in tech and gaming. Now it's also playing an important role in medicine and health, expanding opportunities for researchers, clinicians and patients. Simulated experience can reduce stress, help doctors practice surgical techniques or allow medical students a way to practice their bedside manner in virtual scenarios. On February 23, NHGRI hosted a Reddit "Ask Me Anything" (AMA) with NIH researchers who use VR to study a host of research questions. Read our recap here. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - March 2, 2018 Category: Genetics & Stem Cells Source Type: news
Survey shows broad support for national precision medicine study
A recent survey designed to measure public attitudes about the Precision Medicine Initiative (PMI) Cohort Program has shown that most respondents were willing to participate in this nationwide research. The PMI Cohort Program is a longitudinal research effort that aims to engage 1 million or more U.S. participants to help improve prevention and treatment of disease. The results were published online August 17 inPLOS ONE. NHGRI's David Kaufman, Ph.D., led the research. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 18, 2016 Category: Genetics & Stem Cells Source Type: news
Seeking: Director, Division of Genome Sciences
The National Human Genome Research Institute a component of the National Institutes of Health (NIH) and the Department of Health and Human Services (DHHS), is seeking exceptional candidates for the position of Director, Division of Genome Sciences. The ideal candidate will have the knowledge and expertise to lead NHGRI's funding for extramural research and training that is aimed at advancing the understanding of the structure and function of genomes and their implications for biology and disease etiology. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 17, 2016 Category: Genetics & Stem Cells Source Type: news
Sardinian dog genome reveals a shared ancestral homeland with humans
The genetic origins of a fierce Sardinian dog (also called Fonni's dogs for the city of the same name) mirror recent studies that also traced the genetic origins of human Sardinians to the Middle East and Hungary, according to scientists at the National Human Genome Research Institute. Sequencing the whole genome of Fonni's dogs revealed clues about the migration of humans to the area. Findings were reported August 12 in the
journalGenetics. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 15, 2016 Category: Genetics & Stem Cells Source Type: news
From Bedside Back to Bench: Bringing Genomic Medicine Full Circle
August is a quiet month in D.C., but once the fall begins, our heads will spin with important events: the last Fiscal Year 2016 meeting of the National Advisory Council for Human Genome Research, developments from the Precision Medicine Initiative and all the latest news in genomics! This issue ofThe Genomics Landscape features NHGRI's ninth Genomic Medicine Meeting, highlights a meeting with Israeli research leaders and provides an opportunity to comment on new guiding principles for DNA sequencing-based clinical tests. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 9, 2016 Category: Genetics & Stem Cells Source Type: news
New tools to determine copy number variations raise questions about reproducibility
Copy number variations (CNVs) - large segments of DNA that have been duplicated or deleted - play a role in disease susceptibility and drug response. New tools exist that examine the prevalence of CNVs in the protein-coding part of the genome, but their accuracy remains unknown. A new study from NHGRI investigators looks at the reproducibility of the results from the most current tools and finds that further improvements are necessary. The research was published in the August 8 edition ofGenome Medicine. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 9, 2016 Category: Genetics & Stem Cells Source Type: news
How much does it cost to sequence a genome?
A question often posed to NHGRI staff is "How much does it cost to sequence a human genome?" This is timely, as human genome sequencing expands from research tool to major clinical diagnostic test. To help everyone understand the cost, NHGRI recently developed a summary and infographic calledThe Cost of Sequencing a Human Genome to clarify how the cost of generating a human genome sequence is calculated. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - August 4, 2016 Category: Genetics & Stem Cells Source Type: news
Gut bacteria co-evolved with animal hosts, offers human evolution clues
< strong > Based on the DNA sequence < /strong > of a moderately conserved gene in all bacteria, researchers have found that bacterial strains diverged and began to evolve separately in the guts of humans and chimpanzees 5 million years ago, and in humans and gorillas 15 million years ago. These dates are similar to when humans and apes evolved into a new species. It may now be possible to determine if this mutually beneficial relationship between gut bacteria and their animal hosts contributed to the formation of a new species. A perspective on the research from NHGRI Senior Investigator Julie Segre, Ph.D., appears in th...
Source: NHGRI Homepage Highlights - July 22, 2016 Category: Genetics & Stem Cells Source Type: news
Researchers advance treatment possibilities for Gaucher, Parkinson's
National Institutes of Health researchers have identified and tested a molecule that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. These findings demonstrate how insights from a rare disorder can have direct relevance to the treatment of more common disorders. Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Parkinson's disease affects more than 1 million people in North America and 7-10 million people worldwide. The findings were published July 12 in The Journal of Neuroscience. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 12, 2016 Category: Genetics & Stem Cells Source Type: news
Progeria cure remains elusive but new therapeutic options are emerging
Development of a cure for Hutchinson-Gilford progeria syndrome (HGPS), a rare disease that causes rapid aging in children, remains elusive, NIH Director Francis Collins, M.D., Ph.D., wrote in a July 12 editorial in Circulation. But therapeutic options are emerging, and there is momentum in the basic and clinical research communities. His comments appeared in the same issue as findings of a new clinical trial that combines three drugs for the treatment of HGPS. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 12, 2016 Category: Genetics & Stem Cells Source Type: news
Genetics of type 2 diabetes revealed in unprecedented detail
A comprehensive investigation of the underlying genetic architecture of type 2 diabetes has unveiled the most detailed look at the genetic differences that increase a person's risk for disease development. The findings, published July 11 in the journal Nature, reveal the complexity of the disease in more detail than previously appreciated and also identify several promising targets for new treatments. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 7, 2016 Category: Genetics & Stem Cells Source Type: news
FDA requests comments on draft guidances for Precision Medicine Initiative
The U.S. Food and Drug Administration (FDA) has announced two draft guidances to support President Obama's Precision Medicine Initiative. The guidances will help provide oversight for tests based on next generation sequencing, a technology that examines a person's DNA to detect medically important differences in genomic make-up that could increase the risk for disease. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - July 7, 2016 Category: Genetics & Stem Cells Source Type: news
