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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.
… Jeannine Mjoseth … National Human Genome Research Institute (NHGRI) researchers are … 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 …
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 … administered by the intramural program of the National Human Genome Research Institute (NHGRI). To learn more about … NIH, which is part of the U.S. Department of Health and Human Services, established the Office of Rare Diseases
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… The National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP) is part of the Undiagnosed Disease … in Bethesda, Maryland. It was organized by the National Human Genome Research Institute (NHGRI), the NIH Office of … 2, 2011:  NIH researchers identify genetic cause of new vascular disease NIH/NHGRI News Release Feb. 2, 2011:  The …
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 … treatment  approved by the FDA . The ability to read the human genome quickly and cheaply has led to substantial … gene had never been documented, and he was the first known human to lack this protein. So, he helped define the list of …
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 …
For Patients and Families
The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases.
… The Genetic and Rare Diseases Information Center helps people find useful information about genetic and rare diseases … The Genetic and Rare Diseases Information Center (GARD)  was created in 2002 by the National Human Genome Research Institute (NHGRI) and the Office of …
Human Genome Project
Record and submit a short video, capturing your thoughts/concerns/excitement about the launch of the Human Genome Project.
… 1, 2020, marks the 30th anniversary of the launch of the Human Genome Project. NHGRI would like you to help us … feeling] about the launch of the Human Genome Project.   Francis Collins Eric Green   … To … When I first heard of the ambitious effort called the Human Genome Project, I was …   The Human Genome Project …
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 … 13 million people, mostly in Latin America. Hookworm. Human hookworm infection is caused by intestinal worm … administered by the intramural program of the National Human Genome Research Institute (NHGRI). To learn more about …
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 …