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Genetic Disorders
Retinitis pigmentosa is a group of inherited eye diseases that affect the retina (the light-sensitive part of the eye).
Genetic Disorders
Poland anomaly is an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side.
… "Poland syndrome," it is an uncommon condition present at birth (congenital). For people born with PA, the breastbone … the body.  … Poland anomaly can be detected as early as birth and as late as adolescence, depending on how severe it …
The Genomics Landscape
In the January 2019 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green honors NIAMS Director, Stephen Katz, M.D., Ph.D.
… the Genetic Basis of Childhood Cancers and of Structural Birth Defects NIH & NHGRI News NHGRI Job Opening: Chief, …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… emotionally, psychologically and financially for post-birth challenges. Women with higher genomic literacy wanted …
Genetic Disorders
Phenylketonuria is an inherited disorder of metabolism that causes an increase in the blood of a chemical known as phenylalanine.
… classic PKU appear normal for the first few months after birth. However, without treatment with a low-phenylalanine … newborn screening testing that is done shortly after birth on a blood sample (heel stick). However, PKU should be …
The Genomics Landscape
In the January 2024 issue of The Genomics Landscape, NHGRI Director Eric Green announces the appointment of Dr. Adam Phillippy as the founding director of the Center for Genomics and Data Science Research (CGDSR).
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
Policy Issues
There are laws and policies that serve to protect the privacy of individuals' genomic information.
… on wide-ranging topics such as infectious disease to birth defects. De-identified biospecimens are not considered human …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… be further separated into at least six subtypes, caused by defects in different genes. … The newly discovered GARS gene …
Genetic Disorders
Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption.
Staff
Dr. William A. Gahl is a senior investigator in the Medical Genetics Branch and the director of the NIH Undiagnosed Diseases Program.
… discovery of new genetic diseases. He elucidated the basic defects in cystinosis and Salla disease, i.e., deficiencies … Over the years, section members have defined the basic defects in cystinosis, Salla disease, infantile free sialic … Shotelersuk V, Duffy LF, Kuehl EM, Bernardini I. Genetic defects and clinical characteristics of patients with a form …