Search Results
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 … CMT is an inherited neurological disease characterized by a slowly progressive degeneration of … scoliosis (curvature of the spine). People with CMT disease usually begin to experience symptoms in adolescence …
Profile
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. … in medical genetics. After being exposed to clinical research here at NHGRI and other institutions nearby, I knew … a good fit for me, and I was hoping to help patients with rare disorders. …
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 … involved uncovering the genetic basis of the rare disease Arterial Calcification due to Deficiency of CD73 (or …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… an ongoing challenge of distinguishing variants that cause disease from those that do not. Scientists estimate that each … "Deciding which genomic variants are important players in disease is probably the most difficult challenge that we face … are millions of variants in the human genome, and most are rare and do not have a big impact on health. This will likely …
Event
The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory medicine and clinical trials in Mendelian disorders.
… The Excellence in Clinical Research Seminar Series is designed to facilitate clinical research in the rare disease space with a focus on regulatory medicine and … Excellence in Clinical Research Seminar Series … Series is designed to facilitate clinical research in the rare disease space with a focus on aspects of regulatory …
Clinical Research
FAQs for Autoinflammatory Diseases Study providers and researchers.
… than 1 month and who have evidence of autoinflammatory disease (such as persistently elevated CRP ). We accept … family members, giving a stronger indication of genetic disease; however, we will also consider individual patients. … Ivona Aksentijevich if you would like to further discuss research opportunities. …
News Release
Researchers at the National Institutes of Health and their colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as disabling pansclerotic morphea, and have found a potential treatment.
… for disabling pansclerotic morphea, a severe inflammatory disease.  … colleagues have identified genomic variants that cause a rare and severe inflammatory skin disorder, known as … a predoctoral fellow within NHGRI's Inflammatory Disease Section, a medical student at the University of South …
News Release
When Dr. Ellen Sidransky, 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research.
… 2019 winner of the Jay Van Andel Award, looks into a rare disease, she finds a window to take the lead in Parkinson's research. … Ellen Sidransky never thought she would study Parkinson's disease because it is not a disease a pediatrician … recalls her saying. Because Gaucher disease is very rare, having a brain sample of an inflicted person was a real …
For Patients and Families
Neglected diseases are conditions that inflict severe health burdens on the world's poorest people.
… trypanosomiasis. Commonly called sleeping sickness, this disease is caused by a parasitic microbe transmitted by … Africa. American trypanosomiasis. Commonly called Chagas disease, this disease is caused by a parasitic microbe transmitted by … Specific prevention strategies vary from disease to disease. But experts agree that a good way to head …
Research Funding
The Multi-Omics for Health and Disease Consortium aims to advance the application of multi-omic technologies to study health and disease in ancestrally diverse populations.
… exposures, omics, and childhood NAFLD (LEON) Study Disease Study Site** Stephanie Christenson*, Neeta Thakur, … of California, San Francisco EXposomic Profiling in Airway disease to uNravel Determinants of disease in Asthma (EXPAND-Asthma) Center Disease Study Site** …