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Genetic Disorders
Autosomal Dominant Polycystic Kidney Disease is a genetic disorder characterized by the growth of numerous cysts in both kidneys.
… Alliance Urology Cure Foundation National Organization for Rare Disorders Genetic and Rare Disease Information Center Finding Reliable Health …
Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and … Atrophy … Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and …
Genetic Disorders
Marfan syndrome an inherited disorder of connective tissue occurring once in every 10,000 to 20,000 individuals.
… … Marfan syndrome is one of the most common inherited disorders of connective tissue. It is an autosomal dominant … 10,000. The risk is higher for siblings because there are rare families where a Marfan gene mutation is in some … once in every 10,000 to 20,000 individuals. … Genetic Disorders …
Genetic Disorders
Osteogenesis imperfecta is a genetic disorder that causes a person's bones to break easily, often from little or no apparent trauma.
… ( CRTAP and P3H (LEPRE1) ) responsible for some of the rare recessive forms of OI. … There is currently no cure for … easily, often from little or no apparent trauma. … Genetic Disorders …
News Release
NHGRI will fund a set of genome sequencing and analysis centers whose research will focus on understanding the genomic bases of common and rare human diseases.
… focus on understanding the genomic bases of common and rare human diseases. … The National Human Genome Research … will continue investigating the genomic underpinnings of rare, typically inherited diseases, such as cystic fibrosis … about the genomic architecture of a wide range of human disorders." CCDG researchers plan to examine a select group …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… consistent with that of NF1 or NF2, have been observed. A rare form of NF is schwannomatosis. However, the genetic … in other parts of the body, due to spinal cord tumors. The rare form of NF, schwannomatosis, which was recently … affect the brain, spinal cord, nerves and skin. … Genetic Disorders …
For Patients and Families
FAQs about genetic disorders, the impact of genomics on your health, and the emerging science of pharmacogenomics.
… answers to frequently asked questions about genetic disorders, the impact of genomics on your health, and the … of pharmacogenomics. … Health FAQs … FAQs about genetic disorders, the impact of genomics on your health, and the … Genetic Disorder, Genetic Counseling, Genetic Testing, Rare Disease … FAQs about genetic disorders, the impact of …
Genetic Disorders
Methylmalonic acidemia is a group of inherited disorders in which the body is unable to process certain proteins and fats (lipids) properly.
… Methylmalonic acidemia refers to a group of inherited disorders in which the body is unable to process certain … acidemia (MMA) refers to a group of inherited disorders in which the body is unable to process certain … visual and neurological problems. CblD and cblF are more rare conditions and the genes responsible for them, called …
News Release
A team from the NIH has surmounted a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease.
… a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. Researchers … Content … NIH researchers use a new cell model of a rare disease to develop therapeutic compounds … A team from … a major obstacle to testing potential drug therapies for a rare, genetic condition called Gaucher disease. ​ … Gaucher …
News Release
In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers have identified the genomic mutations.
… and his colleagues described and named the children's very rare disease, Carey-Fineman-Ziter syndrome (CFZS). … … Related Content … Decades after rare disease diagnosis, family and physician hail genomic … … In 1982, John Carey, M.D., and his colleagues named the rare disease, Carey-Fineman-Ziter syndrome. Now, researchers …