Search Results
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Diseases Program (UDP) is part of the Undiagnosed Disease Network (UDN), an NIH Common Fund initiative that … new insights about genetic and biochemical mechanisms of disease and insights into normal cell biology, biochemistry … role of molecular and biochemical events that can cause disease and, eventually, the development of diagnostic and …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly progressive degeneration of … fingers, and toes. … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Africa. American trypanosomiasis. Commonly called Chagas disease, this disease is caused by a parasitic microbe transmitted by …
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.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized medicine. … We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. …
Fact Sheet
Genomic variation accounts for some of the differences among people, including important aspects of their health and susceptibility to diseases.
… subset of genomic variants contributes to human health and disease.  Researchers create reference human genome … SNVs but can sometimes have a larger impact on health and disease (e.g., by disrupting the function of a gene that … people, including important aspects of their health and susceptibility to diseases. … Fact Sheet … Human Genomic …
Genetic Disorders
Wilson disease is a rare genetic condition that causes a person's body to store too much of the mineral copper, leading to organ damage that may cause death.
… Wilson disease is a rare genetic condition that causes a person's … can lead to organ damage that may cause death. … Wilson disease is a rare genetic condition that affects about one in 30,000 people. Wilson disease causes a person's body to store too much of the …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of … glucocerebroside cannot be adequately degraded. … Gaucher disease is an autosomal recessive inherited disorder of … normal part of the cell membrane. People who have Gaucher disease do not make enough glucocerbrosidase. This causes the …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
… Dercum disease is a rare condition that is characterized by … in post-menopausal, obese women of middle age. … Dercum disease - also known as Adiposis Dolorosa, Anders' syndrome … pain that can be severe and sometimes debilitating. Dercum disease is a chronic condition, meaning that it is a long …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement … Parkinson's disease (PD) is a neurological condition that typically … We found the gene that caused their inherited Parkinson's Disease and it coded for a protein called alpha-synuclein. If …
Research Funding
The PAGE Consortium investigates ancestrally diverse populations to gain a better understanding of how genetic factors influence susceptibility to disease.
… studies have identified many genetic variants related to disease and have highlighted the need to further explore … identified in genome-wide association studies of common disease, and a large-scale effort focused on the Metabochip … to better characterize how genetic factors influence susceptibility to disease. In September 2013, the NHGRI …