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Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… interests focus on genetically-caused neuromuscular disorders of childhood. In his clinical practice, formerly at … uses next-generation genomic tools to identify new genetic disorders, as well as to carefully establish phenotypic … are perturbed in muscular dystrophy and other muscle disorders. Their overriding goal - in both the laboratory and …
Staff
Dr. Ellen Sidransky is a pediatrician and clinical geneticist in the Medical Genetics Branch at the National Human Genome Research Institute.
… the complexity encountered in "simple" Mendelian disorders, the association between Gaucher disease and … protocols evaluating patients with lysososmal storage disorders and prospectively studying patients and relatives … contributing to clinical heterogeneity in single gene disorders, and to develop new therapies for patients. The …
Staff
Lindsey Criswell, who became the director of the National Institute of Arthritis and Musculoskeletal and Skin Diseases in February, 2021 is also an associate investigator in NHGRI's Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch.
… research focuses on the genetics and epidemiology of human autoimmune disease, particularly rheumatoid arthritis and … Genomics of Autoimmune Rheumatic Disease Section Staff … Lindsey Criswell, genetic risk factors, autoimmune disease, rheumatoid arthritis (RA); systemic lupus …
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.
… Some researchers have suggested that Dercum disease is an autoimmune disorder (a condition that occurs when the body's … Genetic Disorders …
Genetic Disorders
Klinefelter syndrome is a condition that occurs in men as a result of an extra X chromosome. The most common symptom is infertility.
… have Klinefelter syndrome also have an increased risk for autoimmune disorders such as lupus, rheumatoid arthritis and Sjogren's … Genetic Disorders …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… Genetic Disorders …
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.
… on regulatory medicine and clinical trials in Mendelian disorders. The series will follow one of two formats: (1) a … of regulatory medicine and clinical trials in Mendelian disorders. The series will largely follow either one of two … of regulatory medicine and clinical trials in Mendelian disorders. …
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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… Dr. Huizing investigates rare human genetic disorders and associated intracellular processes in order to … molecular function that underlie various genetic metabolic disorders, with the hope of developing treatments for these illnesses. Her research focuses on disorders of sialic acid metabolism and of lysosome-related …
Genetic Disorders
The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process.
… difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. A … include chest and abdominal pain, emotional and mental disorders, seizures and muscle weakness. These symptoms often … vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently. The acute …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a … forms of these diseases, as well as other neurological disorders. Because carpal tunnel syndrome affects the hands … - Genetics Home Reference National Organization for Rare Disorders (NORD) Online Mendelian Inheritance in Man  …