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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, … studies have the potential to shed light on more common diseases in a perspective published February 22, 2017, in the … clinical director and director of the NIH Undiagnosed Diseases Program (UDP), offered other examples of rare …
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 Americans. … There are more than 6,800 rare diseases. Altogether, rare diseases affect an estimated 25 …
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… Alzheimer or Parkinson disease, the two most common neurodegenerative diseases. Curriculum Vitae … DeStefano, J. J., Roberts, B., … Health, genetic variation, genome-wide association study, neurodegenerative diseases … Daniel Shriner, Center for …
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 …
15 Ways Genomics Influences Our World
Genomics is ending diagnostic odysseys for patients with rare diseases.
… is ending diagnostic odysseys for patients with rare diseases. … Did you know that there are truly rare people … of these patient groups are accelerating research on rare diseases by recruiting patients with the same condition to … the mutations in the PRNP gene that cause prion diseases like FFI . Along with their colleagues, the couple …