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Research Funding
The Genome Sequencing Program uses genome sequencing to identify genes and genomic variants underlying human inherited disease.
… The Genome Sequencing Program is consists of the following centers funded through … inherited disease across its full spectrum, including rare diseases likely to be due to rare variants with strong … effects (Mendelian), and common, genetically complex diseases that are caused by many variants. The GSP will also …
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 … the Therapeutics for Rare and Neglected Diseases (TRND) program, to create an integrated research pipeline to jump …
Research Training
A mentored, pre-tenure track junior faculty position during which time the incumbent designs and implements an integrated, translational research program.
… The Physician Scientist Development Program (PSDP) is a mentored, pre-tenure track junior faculty position. The program lasts for three to five years during which time the … and implements an integrated, translational research program. … The key elements of support for the program are …
Research Training
The Summer Internship Program in Biomedical Research provides students the opportunity to perform biomedical research with some of the world's best scientists.
… The Summer Internship Program in Biomedical Research provides students at all … some of the world's most accomplished scientists. … The program immerses students in a unique environment devoted to … the student receives in the laboratory, students in the program attend the National Institutes of Health (NIH) Summer …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… physical and social environment. For this reason, complex diseases are also called multifactorial diseases. This stands in contrast to a “simple” genetic … in a single gene. Common examples of complex genetic diseases include heart disease, diabetes, and cancer. … A …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… The Combined Pediatrics and Medical Genetics Residency Program is a remarkable opportunity for medical school … graduates to complete a combined, five-year residency program in pediatrics and medical genetics. … The Combined … in pediatrics, clinical and molecular genetics, metabolic diseases, and cytogenetics. Trainees spend approximately 50% …
Professional Development Programs
The JHU/NIH Genetic Counseling Training Program addresses the growing need for genetic counseling services.
… and support the JHU/NIH Genetic Counseling Training Program (GCTP), a competitive graduate program that addresses the growing need for genetic … Mission Statement The JHU/NIH Genetic Counseling Training Program shapes genetic counseling services through student …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… will guide researchers in studying other forms of these diseases, as well as other neurological disorders. Because … investigating inherited and non-inherited neurological diseases. Additional Resources for Charcot-Marie-Tooth … Center for Biotechnology Information Genetics and Rare Diseases Information Center Finding Reliable Health …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… pediatrician and biochemical geneticist in the NIH Undiagnosed Diseases Program (UDP) and the NHGRI Office of the Clinical Director. …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on … or by others instrumental in drug access. … Neglected diseases are conditions that inflict severe health burdens on … the Therapeutics for Rare and Neglected Diseases (TRND), program, to create an integrated research pipeline to jump …