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- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Genomic Innovator Awards1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
Research Training
Three-year residency program in medical genetics that trains physicians to diagnose, manage and counsel patients with genetic disorders.
… Research Institute (NHGRI) offers a three-year residency program in medical genetics that trains physicians to … experience in clinical and molecular genetics, metabolic diseases and cytogenetics. M.D. candidates must have … extensive experience with common inherited / genetic diseases in both inpatient and outpatient settings with …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
… (NHGRI). In 2020, he joined as a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl. Since 2021, Dr. Rossignol has …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… understanding the genomic bases of common and rare human diseases. … The National Human Genome Research Institute … sequencing to explore the genomic contributions to common diseases such as heart disease, diabetes, stroke and autism. … NHGRI also announced the next phase of a complementary program, the Centers for Mendelian Genomics (CMG), which will …
Professional Development Programs
Provides exposure to the broader genomics community and experts in the field, with the opportunity to work on a genetics/genomics-related education projects under the mentorship of an ISCC-PEG member.
… College of Medicine, Genetic Counseling Graduate Program, Columbus, OH Richard L. Haspel, M.D., Ph.D. Beth … Ed.D., M.S., CGC Director Cancer Genomics Education Program, Division of Clinical Cancer Genomics, City of Hope … the University of Utah in the Division of Neonatology Rare Diseases and Inclusive Genetics Lisa Ferrand, BS, MS Barry …
Research Training
The Graduate Partnerships Program develops future scientists by providing opportunities to perform research in NHGRI laboratories.
… The Graduate Partnerships Program fosters the professional development of future … Institute (NHGRI) laboratories. … The four year training program is open only to those who have already completed a … or foreign nationals currently enrolled in a Ph.D. program. Application information can be found at: …
News Release
NHGRI will highlight rare disease research that benefits affected patients and provides insights into more common disorders on Rare Disease Day.
… that is part of a global effort to raise awareness of rare diseases. Several NHGRI staff members - Anastasia L. Wise, … Ph.D., NHGRI clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of rare disease …
Staff
Dr. Toro is a senior clinician in NHGRI's Office of the Clinical Director and co-director of the NIH Undiagnosed Diseases Program.
… with movement disorders, atypical neurodegeneration, and undiagnosed neurological disorders. … Since 2009, Dr. Toro … served as the primary neurologist for the NIH Undiagnosed Diseases Program (UDP) and has contributed to the success of program’s …
Research Funding
The N​on-Coding Variants Program explores which variants in a region associated with a disease or trait cause the higher risk for the disease or trait
… when and where proteins are made. The Non-Coding Variants Program (NoVa) supports the development of approaches to … this RFA use a range of approaches to study a variety of diseases as test cases. All the data used and produced will … genetic variants that impact immune phenotypes and diseases R01 HG008131 Manolis Kellis Broad Institute of MIT …
Staff
Dr. Acosta is a board-certified pediatric neurologist with the NIH Undiagnosed Diseases Program's GM1 gene therapy trial.
… Clinical Director of the Neurofibromatosis type 1 (NF1) Program and as an associate professor at George Washington … a full-time position as a pediatric neurologist at the NIH Undiagnosed Disease Program (UDP) and the GM1 gene therapy … disabilities, from common conditions like ADHD to rare diseases like GM1 and the variety of conditions seen in the …
For Patients and Families
A rare disease is generally considered to be a disease that affects fewer than 200,000 people in the United States at any given time.
… States at any given time. There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 million to 30 million … called the Therapeutics for Rare and Neglected Diseases program , to create an integrated research pipeline to jump …