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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 …
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 …
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.​ ​
… medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle cell … you have an increased chance of getting some common diseases. Your health care provider can then give you …
News Release
NHGRI researchers have identified new genes associated with the Erdheim-Chester disease (ECD) and some possible new therapies.
… in NHGRI's Medical Biochemical Genetics Residency Program . "Our work on ECD builds on the institute's goals to advance medical knowledge about rare diseases and to potentially provide insights into more common … NHGRI Medical Biochemical Genetics Residency Program, accumulation of histocytes, new gene discovery … …