Search Results
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… of the second and third known patients in the world with congenital disorder of glycosylation 2b, in which … G, ten Bosch JW, Anikster Y, Klein C, Gahl WA, Somech R. A congenital neutrophil defect syndrome associated with …
The Genomics Landscape
In the September 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, recaps the April 2023 virtual reunion of the leaders of the five genome-sequencing centers (G5), where they tell the untold story on how they ushered the Human Genome Project across the finish line in 2003.
… rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis Tenney et al. Nature Genetics . 2023 Jun;55, 1149–1163 PMC10335940  Hereditary congenital facial paresis type 1 (HCFP1) is rare disorder in …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… with these disorders exhibit various combinations of congenital malformations, overgrowth, birthmarks, … agents to develop approaches to treatment. In contrast to congenital malformations, mosaic overgrowth disorders have a … LG. Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet , 32:175-9. 2002. [ PubMed …
Staff
Dr. Manoli is a pediatrician, clinical and biochemical geneticist in the Organic Acid Research Section of the Metabolic Medicine Branch at NHGRI.
… regulatory as the cause for autosomal dominant hereditary congenital facial paresis, type 1 (HCFP1). … Tenney AP, Di … rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis . Nat Genet . 2023 … FS, Manoli I . Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic …
Staff
Dr. Rossignol is a staff clinician in the Undiagnosed Diseases Program under Dr. William Gahl.
Staff
Dr. Marjan Huizing is a staff scientist in the Medical Genetics Branch at the National Human Genome Research Institute.
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Research at NHGRI
NHGRI researchers work with patients and families to understand of how genes influence disease and develop more effective diagnostics and treatments.
Clinical Research
NHGRI researchers work with patients and families to explore how genes cause or influence diseases, and develop more effective diagnostics and treatments.
… of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis Bardet-Biedl Syndrome Clinical … Clinical and Molecular Investigations into Ciliopathies Congenital Hepatic Fibrosis Clinical and Molecular … Growth Disorder Study of Proteus Syndrome and Related Congenital Disorders Healthy Individuals Genetic Analysis of …
Genetic Disorders
Myotonic dystrophy is an inherited type of muscular dystrophy that affects the muscles and other body systems.
… can be seen at birth. This form of Type 1 is called congenital myotonic dystrophy. Congenital myotonic dystrophy has only been seen in Type 1 … born with signs and symptoms of myotonic dystrophy have congenital myotonic dystrophy. They have weakness of all …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… 2265T. Lynne A. Wolfe: the natural history protocol on congenital disorders of glycosylation. (Metabolic Disorders) 2267T. Hadass Pri Chen: Congenital Protein Losing Enteropathy: An inborn error of … Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation. (Clinical Genetics and …