Bill Gahl Steps Down as NHGRI Clinical Director to Pursue Research
In this month's issue ofThe Genomics Landscape, NHGRI Director Dr. Eric Green recognizes Dr. Bill Gahl's signature professional achievements during his tenure as NHGRI Clinical Director. Other topics include the NIH Undiagnosed Diseases Network being featured in theNew York Times; the video recording from the 'From Genome to Phenotype' Worhsop is now available; and the National DNA Day Essay Contest is open through March 8, 2019. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - February 7, 2019 Category: Genetics & Stem Cells Source Type: news
NIH's new automated tool-set detects disease-causing genes in undiagnosed patients
Researchers with the National Institutes of Health Undiagnosed Disease Program have developed a powerful new toolset for finding potential disease-causing gene variants in undiagnosed patients. The work is automatically accomplished by computers - with no human interpretation or bias - and takes about three hours per exome, an individual's protein-coding genes. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - February 5, 2019 Category: Genetics & Stem Cells Source Type: news
Patients and their families work with NIH researchers to advance MMA research
Dr. Chuck Venditti, a senior investigator in the National Human Genome Research Institute, is working with the largest group of people affected by methylmalonic acidemia (MMA). The disease impairs an individual's ability to break down and process protein in their food. As a result, toxic acids can build up in the bloodstream and cause serious health problems. Dr. Venditti and his dedicated research team will soon begin clinical trials to test several new genomic treatments. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - February 4, 2019 Category: Genetics & Stem Cells Source Type: news
The 2019 National DNA Day Essay Contest is open!
Geared to students in grades 9-12 worldwide, the American Society of Human Genetics DNA Day Essay Contest celebrates National DNA Day by asking students to examine, question, and reflect on important concepts in genetics. This year's question asks students if a medical provider should disclose a patient's medical information to close relatives after receiving a diagnosis. Deadline: March 9, 2018, at 5:00 p.m. U.S. Eastern Time. Winners will be announced on National DNA Day, Thursday, April 25, 2019. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - January 24, 2019 Category: Genetics & Stem Cells Source Type: news
NHGRI Strategic Planning Workshop
On January 22-24, NHGRI will host a workshop -From Genome to Phenotype: Genomic Variation Identification, Association, and Function in Human Health and Disease - to seek input from a range of scientific perspectives on one of the central issues in human genomics - relating genomic variation to phenotype. This workshop is one of a series of activities devoted to strategic planning for NHGRI.Watch the live webcast. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - January 22, 2019 Category: Genetics & Stem Cells Source Type: news
Mourning the Loss of an NIH Giant, NIAMS Director Steve Katz
In the January 2019 issue ofThe Genomics Landscape, NHGRI Director Dr. Eric Green honors the legacy of long-time Director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Stephen (Steve) I. Katz, M.D., Ph.D. after he passed away in December 2018. Other topics include research supplements to promote diversity in health-related research and the recently-published workshop report for theGenomic Medicine XI Meeting: Research Directions in Genomic Medicine Implementation. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - January 10, 2019 Category: Genetics & Stem Cells Source Type: news
After 16 years, Dr. Gahl steps down as NHGRI intramural clinical director to focus on research
William A. Gahl, M.D., Ph.D., has stepped down as clinical director of NHGRI's Division of Intramural Research (DIR). Dr. Gahl has nurtured and promoted clinical research in the NHGRI DIR since 2002. He also founded and has directed the NIH Undiagnosed Diseases Program since 2008. Dr. Gahl will continue his research in NHGRI's Medical Genetics Branch and Human Biochemical Genetics Section. NHGRI Scientific Director Dan Kastner, M.D., Ph.D., will serve as acting clinical director while NHGRI launches a major search for Dr. Gahl's replacement. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - January 3, 2019 Category: Genetics & Stem Cells Source Type: news
Sickle cell disease community is hopeful that genome editing will rechart course of the disease
In the first study of its kind, NHGRI researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease. Study participants expressed overall optimism about participating in human genome editing clinical trials, but were concerned about treatment risks and transparency of the research enterprise, according to the findings published December 24 inGenetics in Medicine. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - January 3, 2019 Category: Genetics & Stem Cells Source Type: news
'Genomics2020': Taking Stock
In the December issue of The Genomics Landscape, NHGRI Director Dr. Eric Green recaps progress from NHGRI strategic planning process events in 2018. Other topics include: Examining How Race, Ethnicity, and Ancestry Data Are Used in Biomedical Research; the Workshop to Increase Access and Utilization of ENCODE Data; and a collection of papers on "Genomics and the Human Genome Project" that was recently published in a special issue of theJournal of the History of Biology. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - December 6, 2018 Category: Genetics & Stem Cells Source Type: news
Elevated hormone flags liver problems in mice with methylmalonic acidemia (MMA)
NHGRI researchers have discovered a hormone in a mouse study that can be used immediately to can help doctors predict how severely patients with the rare disease methylmalonic acidemia are affected and when to refer them for liver transplants. The findings, published December 6 in JCI Insight, also might shed light on more common disorders such as fatty liver disease, obesity and diabetes. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - December 4, 2018 Category: Genetics & Stem Cells Source Type: news
FDA recognizes NHGRI's ClinGen, dataset that ties genetic variants to disease
For the first time, the Food and Drug Administration has formally recognized a public dataset of genetic variants and their relationship to disease to help accelerate the development of reliable genetic tests. Genetic test makers, including those using next-gen sequencing, can use genetic variant information in the Clinical Genome Resource (ClinGen) to support clinical validity in premarket submissions to FDA. ClinGen is administered by the National Human Genome Research Institute, part of the National Institutes of Health, and is available viaClinVar. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - December 4, 2018 Category: Genetics & Stem Cells Source Type: news
NHGRI's Dr. Andy Baxevanis named Fellow of the American Association for the Advancement of Science
Andy Baxevanis, Ph.D., a senior scientist leading the Computational Genomics Unit at the National Human Genome Research Institute (NHGRI), has been named a Fellow of the American Association for the Advancement of Science (AAAS). Dr. Baxevanis was recognized for his distinguished contributions to the field of comparative genomics, particularly for using computational approaches to study the molecular innovations driving diversity in early animal evolution. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - November 27, 2018 Category: Genetics & Stem Cells Source Type: news
Celebrating the first quarter century of the NHGRI Intramural Research Program
In the November issue ofThe Genomics Landscape, NHGRI Director Dr. Eric Green highlights the 25th anniversary of NHGRI's Intramural Research Program. Other topics include: ClinGen and ClinVar featured in a special issue ofHuman Mutation, NIH enacting a policy change for summary results from genomics studies, a request for information (RFA) on the proposed NIH Data Management and Sharing Policy, the NIHAll of Us Program funding awards for genome sequencing centers, and more. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - November 8, 2018 Category: Genetics & Stem Cells Source Type: news
NHGRI joins international team to sequence Mongolian genomes
North Asians, including Mongolians and other Siberian ethnic groups, may be more closely related to Eastern and Northern Europeans - including the people of Finland - than previously thought, according to a new genomics study inNature Genetics. The international team of researchers, including those from the National Human Genome Research Institute (NHGRI), made the connection by comparing the whole-genome sequences of 175 ethnic Mongolians to existing genetic variation data. (Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - November 5, 2018 Category: Genetics & Stem Cells Source Type: news
Providing access to genomic summary results
(Source: NHGRI Homepage Highlights)
Source: NHGRI Homepage Highlights - November 1, 2018 Category: Genetics & Stem Cells Source Type: news
