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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 …
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 …
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 …
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 …
The Genomics Landscape
In the April 2018 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the 15th anniversary of National DNA Day and the '15 for 15' Celebration.
… Scientists Kids First: Genomic Studies of Orofacial Cleft Birth Defects Data Now Available Unlocking Life's Code: March 2018 …
The Genomics Landscape
In the November 2019 edition of The Genomics Landscape, NHGRI Director Eric Green highlights the International Common Disease Alliance's scientific plenary and launch meeting in September, which included an international panel on opportunities emerging outside the U.S., North America, and Europe; discussions about polygenic risk scores; and an overview about data platforms, data sharing, and ethics.
… the genetic basis of childhood cancers and of structural birth defects: Gabriella Miller Kids First Pediatric Research …
Genetic Disorders
Thalassemia is a group of inherited diseases of the blood that affect a person's ability to produce hemoglobin, resulting in anemia.
… also an option for carriers who don't want to risk giving birth to a child with thalassemia. A new technique, … parents who have thalassemia or carry the trait to give birth to healthy babies. Embryos created in-vitro are tested …