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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
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
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.
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 …
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 …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI. She earned her medical degree, a … Metropolitan Washington D.C. Medical Genetics and Genomic Medicine Training Program and the NIH Institutional Review … weakness disorders, with investigators at Icahn School of Medicine at Mount Sinai and Boston Children’s Hospital. This …