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News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the NHGRI Division of … is the perfect place for further exploration of these disorders,” said Dr. Hanchard. “The studies planned by my … as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
… 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 … intricate relationships between clinical manifestations, metabolic defects and molecular mechanisms, and to tackle the …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… as a junior faculty member in the Program for Inherited Metabolic Diseases at Mount Sinai. Dr. McGuire is board … has been focused on improving the care of patients with disorders of mitochondrial metabolism. By combining his … clinical observation that infection is a major cause of metabolic decompensation and associated morbidity and …
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. … Event …
Genetic Disorders
Noonan syndrome involves unusual facial characteristics, short stature, heart defects, bleeding problems, developmental delays and malformations of the ribs.
… delays and malformations of the ribs. … Genetic Disorders …
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
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.
… of its symptoms rather than as a physiologic or metabolic process. The fatty deposits (lipomas) cause nerve … in post-menopausal, obese women of middle age. … Genetic Disorders …
Genetic Disorders
Huntington's disease is an inherited neurological illness causing involuntary movements, severe emotional disturbance and cognitive decline.
… the rate of progression of HD or correct or replace other metabolic defects contributing to the development and … emotional disturbance and cognitive decline. … Genetic Disorders …
News Release
ASHG members selected Leslie G. Biesecker, M.D., a clinical and molecular geneticist and investigator with NHGRI, as their new president-elect for 2019.
… investigator and chief of NHGRI's Medical Genomics and Metabolic Genetics Branch, Dr. Biesecker leads a program … and disease. In the past 20 years, he has studied rare disorders of development and overgrowth such as … clinical and molecular geneticist, Medical Genomics and Metabolic Genetics Branch, Proteus syndrome, ClinSeq … ASHG …