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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.
… Institute (NHGRI) researchers are highlighting rare disease research that benefits affected patients and also … are underlining this important relationship in advance of Rare Disease Day at NIH , a day-long symposium that is part of a global effort to raise awareness of rare diseases. …
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.
… A rare disease is generally considered to be a disease that affects … diseases are referred to as rare, genetic diseases. Many of these genetic mutations can be passed on from one … important to keep in mind that genetics are just one piece of the puzzle. Environmental factors, such as diet, smoking, …
Research at NHGRI
The Translational and Functional Genomics Branch explores the genetic, epigenetic and metagenomic basis of human disorders.
… by exploring the genetic, epigenetic and metagenomic basis of human disorders. … TFGB researchers have developed a wide … that live on humans and animal models of genetic disease. TFGB investigators catalyze technology development …
Educational Resources
A complex disease is caused by the interaction of multiple genes and environmental factors.
… Complex Disease … A complex disease is caused by the interaction of multiple genes and environmental factors. … Genes, Cancer, … a disorder that results from the contributions of multiple genomic variants and genes in conjunction with significant …
News Release
Six new grants will support researchers for new computational approaches to search millions of genomic variants for disease susceptibility.
… Benowitz … Six new grants from the National Institutes of Health (NIH) will support researchers to develop new … computational approaches for searching among millions of genomic variants to find those that make a difference in disease susceptibility or in other traits. The awards are for …
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 the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes. … CMT is an …
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
… The Cancer Genome Atlas (TCGA) was a joint effort of the National Cancer Institute (NCI) and the National Human … effort to systematically explore the entire spectrum of genomic changes involved in human cancer.  The project then … to shifts in tumor metabolism  (2013)  Study establishes basis for genomic classification of endometrial cancers …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… severe health burdens on the world's poorest people. Many of these conditions are infectious diseases that are most … private pharmaceutical companies cannot recover the cost of developing and producing treatments for these diseases. … 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.​ ​
… is creating new ways for people to take action and prevent disease and new ways to treat disease through personalized … pressure as an adult. Learning about the health history of your family and sharing this information with your health … can help you learn whether you have an increased chance of getting some common diseases. Your health care provider …
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 … Wilson disease causes a person's body to store too much of the mineral copper. Many foods contain copper, and it is …