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News Release
NIH recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and undiagnosed diseases.
… recently awarded approximately $6.8 million in grants to several research teams to study the biology of rare and … and a coordinating center. The UDN is supported by the NIH Common Fund and builds on the success of the Undiagnosed … in UDN patients with information about the patients' genomic make-up and results from various medical tests. Taken …
News Release
Researchers with support from NIH will conduct research into the genetic underpinnings of Alzheimer's disease.
… will use support from the National Institutes of Health to conduct research into the genetic underpinnings of … participants free of the disorder. They also will study genomic data from 111 large families, a portion of which are … that affect not only specific families, but that may be common to specific ethnic groups. (NIA grant U01AG049507)  …
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 … of the spine). People with CMT disease usually begin to experience symptoms in adolescence or early adulthood. … a defect within the axons themselves. CMT type 2, the less common of the two classes, can be further separated into at …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… sanitation, substandard housing and little or no access to health care. … Diseases are said to be neglected if they … the United States with high rates of poverty.  … The most common type of neglected diseases are tropical diseases. Many … trypanosomiasis. Commonly called sleeping sickness, 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.​ ​
… Genetic research 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 …
News Release
More research must be done to understand the interactions of ancient genes with modern environments.
… mutations that have evolved over thousands of years to protect Africans from disease-causing pathogens. … Today, … in the colonies, resulting in a wide range of genetic contributions to different groups of people. The average … Project, the first comprehensive characterization of genomic diversity across sub-Saharan Africa. The study, which …
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 … enough glucocerbrosidase. This causes the specific lipid to build up in the liver, spleen, bone marrow and nervous … and each has a wide range of symptoms. Type 1 is the most common, does not affect the nervous system and may appear …
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 … stiffness in movement. The condition affects about 1 to 2 percent of people over the age of 60 years and the … able to identify genetic variations that contribute to common diseases including Parkinson's disease. … In most …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… collaborators are studying the puzzling link between a common disorder, Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice to carry human mutations causing each of the two diseases. …
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 body to store too much of the mineral copper. Over time, the extra copper can lead to organ damage that may cause death. … Wilson disease is a …