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- Genome Technology Program2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program1
- Genomics-Enabled Learning Health Systems (gLHS)1
News Release
NHGRI researchers have produced the first end-to-end DNA sequence of a human chromosome. The results show that generating a precise, base-by-base sequence of a human chromosome is now possible, and will enable researchers to produce a complete sequence of the human genome.
Event
On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and Wellness Meeting in Bethesda, Maryland.
… McLeod (Moffitt Cancer Center) 1:15 - 1:40 p.m. Genomic Medicine Working Group Formulary: Choosing the right test … p.m. Adjourn … Agenda … On March 5-6, 2019, the Genomic Medicine Working Group hosted the Genomics in Health and … to develop it. Determine employers’ interest in a genomic medicine employee health program. Explore the potential for …
Staff
Dr. Erin M. Ramos is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
… Ramos is the Deputy Director of the Division of Genomic Medicine at the National Human Genome Research Institute … the clinical relevance of genes and variants for use in precision medicine and research. Dr. Ramos contributes to data sharing …
Staff
Dr. Simona Volpi is a program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… Dr. Volpi joined the Division of Genomic Medicine at the National Human Genome Research Institute … includes pharmacogenomics, promoting access to genomic medicine and clinical evidence base for, and demonstrating effectiveness of, genomic medicine. Upon her arrival in the United States in 1999, Dr. …
Staff
Dr. Randy Chandler is an associate investigator in the Organic Acid Research Section of the Metabolic Medicine Branch in NHGRI.
… the Organic Acid Research (OAR) Section of the Metabolic Medicine Branch in NHGRI. He earned a bachelor of science … of Pennsylvania, and doctor of philosophy in molecular medicine from George Washington University. Prior to joining … Chandler was at the University of Pennsylvania School of Medicine’s Department of Genetics in Dr. Haig Kazazian’s lab, …
News Release
Scientists are exploring the genomic and clinical profiles of people with RUNX1 familial platelet disorder.
… RUNX1-FPD patients due to lack of training in genomic medicine . Furthermore, not everyone can access genetic … that more clinicians will become educated about genomic medicine, so that people with RUNX1-FPD will know about their … to genetic testing … More widespread access to genomic medicine vital for studying a rare, underdiagnosed blood …
Research Funding
NHGRI aims to establish a research Consortium, ML/AI Tools to Advance Genomic Translational Research (MAGen), to collaboratively explore the feasibility of Machine Learning (ML) and Artificial Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic genetic variants manifest disease.
… as radiology, cardiology, and various other disciplines of medicine. Vast amounts of multimodal data are available … Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic … Intelligence (AI) tools that can enhance the accuracy and precision of predicting how individuals with pathogenic …
Event
Workshop highlighting accomplishments of eMERGE network and and identifying gaps, challenges and future opportunities in genomic medicine research.
… focused on four topics: evidence generation for genomic medicine, identification of novel and disruptive opportunities in genomic medicine, electronic phenotyping for genomic research, and … challenges and future opportunities in genomic medicine research. … Workshop highlighting accomplishments of …
Staff
Dr. Rongling Li is an epidemiologist and program director in the Division of Genomic Medicine at the National Human Genome Research Institute.
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… She was also on the faculty of Morehouse School of Medicine (Atlanta) and was a tenured professor at the … of Tennessee Health Science Center within the School of Medicine, Department of Preventive Medicine, and Center for Genomics and Bioinformatics …
For Patients and Families
​Genetic research is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine.​ ​
… disease and new ways to treat disease through personalized medicine. … We have known for a long time that common … hundred thousand die. A "one-size-fits-all" approach to medicine might lead to some of these side effects, since all … illnesses. There is now a test to find out whether a medicine called Herceptin will be an effective treatment in …