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The Genomics Landscape
In the October 2019 edition of The Genomics Landscape, NHGRI Director Eric Green focuses on recent efforts to make the human genome reference sequence useful to basic and clinical researchers and how increasing the representation of human genomic variation will remain key components of NHGRI’s Human Genome Reference Program.
… Eric Green, M.D., Ph.D. … I had the pleasure of giving the opening talk at the fourth annual International … at 12 p.m. ET, respectively. These workshops will focus on data science challenges facing the genomics research … a single actual human or a representation of human genomic variation. A reference sequence provides researchers …
News Release
Researchers are asking if the precision medicine approach will reduce or eliminate the role that race plays in prescribing drugs and in health care overall.
… an approach that oversimplifies the complex interplay of ancestry, health, disease and drug response. … In a May 26 … best medication for a patient. It doesn't mean that the use of race in medical care will entirely go away, but its … and the systems in which they work must be trained to use genomic, environmental, lifestyle and social data to guide …
Leadership Initiatives
The Genomics and Health Disparities Interest Group provides a forum to connect individuals from different scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics and health disparities research, as well as provide opportunities for professional development, networking and community engagement. 
… scientific disciplines across the National Institutes of Health (NIH) and researchers in the Washington D.C. metropolitan area engaged in genomics … networking and community engagement.  … As the pace of genomic research accelerates , understanding the role of …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… Starting in 2019, the American Journal of Human Genetics (AJHG) has … an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in …
News Release
The National Human Genome Research Institute (NHGRI) has selected Valentina Di Francesco as the Institute’s first chief data science strategist and director of its new Office of Genomic Data Science. In this role, she will provide leadership, strategic guidance and coordination for NHGRI activities, programs and policies in genomic data science. NHGRI is part of the National Institutes of Health (NIH).
… Sarah A. Bates, M.S. … She will lead new NHGRI Office of Genomic Data Science. … The National Human Genome Research … science is a field of study that enables researchers to use powerful computational and statistical methods to decode …
Clinical Research
In the late 90’s and early 2000’s, scientists at the NIH highlighted an increased incidence of Parkinson disease among patients with GD and their families.
… which breaks down a normal metabolic byproduct stored in the lysosomes (recycling centers) of macrophages (clean-up cells of the immune system). In … P, Pastores G, Zimran A, Goker-Alpan O, Sidransky E. Clinical course and prognosis in patients with Gaucher …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… technologies, genome sequencing carries the possibility of incidental or "secondary" findings that can reveal … previously unsuspected disease states. Pediatricians, in particular, face complicated ethical questions about what … group, this may not be as hard as it sounds. Although genomic technologies may be new to many pediatricians, and …
Research Funding
Coordinates activities across the Genome Sequencing Program components
… Sequencing Program Coordinating Center (GSPCC) was funded in 2016 to coordinate activities across the Genome Sequencing … including: Tracking genome sequencing and analysis costs; data production and deposition; project completion Being a … Investigator: Richard Wilson, Ph.D.   Broad Institute of MIT and Harvard , Cambridge, Massachusetts Principal …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us … Genetics Referrals P224  Using long-read sequencing for genomic and epigenomic analysis in patient-derived samples … An observational study P712 A Novel Framework for Use of the PP1/BS4 Co-segregation and PP4 Phenotype …
Talking Glossary
La hibridación fluorescente in situ (FISH) es una técnica de laboratorio que se usa para detectar y localizar una secuencia de ADN específica en un cromosoma.
… Hibridación fluorescente in situ (FISH) … La hibridación fluorescente in situ (FISH) … sequence on a chromosome. In this technique, the full set of chromosomes from an individual is affixed to a glass slide … matching sequence within the set of chromosomes. With the use of a special microscope, the chromosome and …