Search Results
Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Autosomal Dominant Polycystic Kidney Disease (PKD) is a genetic disorder characterized by … much of the normal mass of the kidneys, and can reduce kidney function and lead to kidney failure. … Autosomal … National Institute of Diabetes and Digestive and Kidney Diseases MedlinePlus Genetics Home Reference PKD Foundation …
Media Availability
TCGA researchers have found that chromophobe renal cell carcinoma stems partly from gene alterations in the mitochondria, the cell's energy supplier.
… about the biology and development of a rare form of kidney cancer. … They found that the disease - chromophobe … disease and shares few genomic characteristics with other kidney cancers. In the study - the most extensive genomic … matter, as many cancers consist of several individual diseases that require specific therapies. TCGA is a …
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 … that frequently occurs in persons with advanced kidney failure, especially in those on long-term …
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 …
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 …
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 …
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 … Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) and the NIH Clinical Center. … A … list for admission is 2 to 6 months. The Undiagnosed Diseases Program pursues two goals: To provide answers to …
Research at NHGRI
CRGGH uses genomic tools to understand the pathobiology of metabolic disorders, including obesity, hypertension, diabetes, dyslipidemia, and kidney disease.
… obesity, hypertension, diabetes, dyslipidemia, and kidney diseases, in different human populations with particular … obesity, hypertension, diabetes, dyslipidemia, and kidney disease. … CRGGH uses genomic tools to understand the …
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 …