Search Results
Clinical Research
The study collects genetic and medical information from people with GNE myopathy to understand the symptoms and clinical course of GNE myopathy.
… Neuromuscular Network  Advancement for the Research of Myopathies: Living with HIBM  National Organization for Rare …
Educational Resources
Congenital conditions are those present from birth.
… Congenital … Congenital conditions are those present from birth. … Birth … Genetic Mutation, Newborn Screening, Genetics, Pregnancy … Congenital refers to a condition or trait that exists at birth. Congenital conditions or traits may be hereditary or result …
Staff
Dr. Carsten Bonnemann is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… focus is on early-onset muscle disease, including the congenital myopathies, congenital muscular dystrophies, and the often rapidly …
News Release
Researchers have identified genomic mutations for Carey-Fineman-Ziter syndrome, a congenital myopathy with facial weakness, a cleft palate and scoliosis.
… for Carey-Fineman-Ziter (CFZS) syndrome, a very rare congenital myopathy (inherited muscle disorder) characterized … that uncovering that cell-cell fusion deficits can lead to congenital myopathies (inherited muscle disease) opens a new path of …
Genetic Disorders
Duane syndrome is a rare, congenital eye movement disorder.
… Duane syndrome is a rare, congenital eye movement disorder. … Duane syndrome (DS) is a … syndrome), Eye Retraction Syndrome, Retraction Syndrome, Congenital retraction syndrome and Stilling-Turk-Duane … … About Duane Syndrome … Duane syndrome is a rare, congenital eye movement disorder. … Duane Syndrome, DS, Eye …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… Resources … Genomics experts dispute nine genes linked to congenital heart condition … An expert panel from the …
Educational Resources
A birth defect is an abnormality present at birth.
… … A birth defect is an abnormality present at birth. … Congenital Defect, Genetic Mutation, Pregnancy, Newborn Testing … A birth defect (also called a congenital defect) is a physical or physiological abnormality …
Staff
Dr. Brian Brooks is an adjunct investigator in NHGRI's Center for Precision Health Research.
… Dr. Brooks studies a potentially blinding congenital malformation of the eye called uveal coloboma. The … novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRL. Human … Center for Precision Health Research. … Brian Brooks, congenital malformation, Mendelian genetics, complex genetics …
Staff
Dr. Benjamin Solomon is the Clinical Director in the Office of the Clinical Director at the National Human Genome Research Institute.
… on understanding the causes and biology of a number of congenital disorders as well as applying emerging … Solomon, Ben Solomon, pediatrics, clinical genetics, congenital disorders, rare diseases … Dr. Benjamin Solomon is …
The Genomics Landscape
In the January 2020 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the newly developed polygenic risk scores webpage, which provides graphical and textual information about polygenic risk scores, describes polygenic traits, introduces how polygenic risk scores can be calculated, and explains how such scores can be interpreted.
… genes reported to be associated with long QT syndrome, a congenital heart condition that predisposes patients to … Research Genomics experts dispute nine genes linked to congenital heart condition Notable accomplishments in genomic … program … ClinGen expert panel curates genes linked to congenital heart condition … NHGRI seeks grant applications …