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Carlos Ferreira, M.D., staff clinician in NHGRI's Metabolic Medicine Branch, knows the catalogue of rare skeletal disorders well. With hundreds of known rare bone disorders and more to be discovered, Dr. Ferreira breaks down the challenges of skeletal genomics.
… With hundreds of rare bone disorders catalogued and more to be discovered, Dr. … a good fit for me, and I was hoping to help patients with rare disorders. … your skeletal genomics unit? Ferreira: We study specific rare skeletal disorders, and we have a few different goals. …
News Release
Dr. Gahl honored for his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases.
… his leading efforts to diagnose and treat individuals with rare and undiagnosed diseases. … possible treatments for people suffering from unknown and rare genetic conditions.   Bill Gahl, M.D, Ph.D., Senior … and dedicated care of numerous patients with rare diseases, make him overwhelmingly worthy of this career …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… Neglected diseases are conditions that inflict severe health burdens on … Neglected diseases are conditions that inflict severe health burdens on … poorest people. Many of these conditions are infectious diseases that are most prevalent in tropical climates, … Diseases are said to be neglected if they are often …
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.​ ​
… We have known for a long time that common diseases like heart disease, asthma, cancer, and diabetes can run in families. Rare diseases like hemophilia, cystic fibrosis, and sickle cell …
Genetic Disorders
Cri du chat syndrome is a rare genetic condition that is caused by the deletion of genetic material on the the p arm of chromosome 5.
… Cri du chat syndrome is a rare genetic condition that is caused by the deletion of … - also known as 5p- syndrome and cat cry syndrome - is a rare genetic condition that is caused by the deletion (a … small arm (the p arm) of chromosome 5. The cause of this rare chromosomal deletion is unknown. …
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
… to identify genetic variations that contribute to common diseases including Parkinson's disease. … before the age of 30 years. PINK1 appears to be a rare cause of inherited Parkinson's disease. A small …
Policy Issues
Genome editing is currently being applied to research on cancer, mental health, rare diseases, and many other disease areas.
… being applied to research on cancer, mental health, rare diseases, and many other disease areas. … "disease models," or laboratory animals that mimic human diseases and can be studied to test new therapies. In the … to use genome editing as a treatment for disease. Many diseases from cancer to asthma have genetic bases. Through …
Genetic Disorders
Progeria is an extremely rare genetic disease of childhood characterized by dramatic, premature aging.
… Progeria is an extremely rare genetic disease of childhood characterized by dramatic, … Progeria is an extremely rare genetic disease of childhood characterized by dramatic, … least a half-dozen other genetic disorders, including two rare forms of muscular dystrophy. In addition to its …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… From the Mayo Clinic National Tay-Sachs and Allied Diseases Association [ntsad.org] Finding Reliable Health …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… that shows promise as a possible treatment for the rare Gaucher disease and the more common Parkinson's disease. … could be widely available to treat people with these diseases. However, there's a long distance between … Intramural Research . "It demonstrates how insights from a rare disorder such as Gaucher disease can have direct …