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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 …
Staff
Dr. Ivona Aksentijevich is an associate investigator in NHGRI Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) to work as a post-doctoral fellow on the … used genetic and genomic approaches to understand human inflammatory diseases and to advance the molecular diagnosis … activator of IL-1b, that cause neonatal-onset multisystem inflammatory disease (NOMID), an autoinflammatory disease …
Genetic Disorders
Dercum disease is a rare condition that is characterized by multiple, painful fatty tumors that occur chiefly in post-menopausal, obese women of middle age.
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. … In most cases …
News Release
NHGRI researchers are studying the link between Parkinson's disease, and a rare disorder, Gaucher disease, by cross-breeding mice with the disease mutations.
… mice to carry human mutations causing each of the two diseases. They published their findings in the December 2017 … Issue 4, 198-208, December 2017. … A Puzzling Link Between Diseases … Related Content … Mouse model for rare genetic …
News Release
NIH researchers have identified and tested a molecule that shows promise as a possible treatment for Gaucher disease and Parkinson's disease.
… could be widely available to treat people with these diseases. However, there's a long distance between … understand the connection between Gaucher and Parkinson's diseases, NHGRI researchers used a labor-intensive technology … to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at: …
Staff
Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of NHGRI's Medical Genetics Branch.
… M.D. … Dr. Amanda Ombrello is a clinical researcher in the Inflammatory Disease Section of the Medical Genetics Branch … As an associate research physician, she leads the Inflammatory Disease Section’s clinical team overseeing the … 2000 patients with novel and established autoinflammatory diseases. … Dr. Ombrello has played a significant role in …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
Research Funding
A collaborative large-scale genome sequencing effort to identify rare risk and protective variants contributing to multiple common disease phenotypes.
… phenotypes. … The CCDG initiative explores a range of diseases with the goal of: Undertaking variant discovery for … genomic architecture underlying common, complex inherited diseases. Understand how best to design rare variant studies … research community. The CCDGs study cardiovascular diseases (early-onset cardiovascular disease, atrial …
Genetic Disorders
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system.