Search Results
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 …
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 …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… from the parents and are present in an individual at birth, like sickle cell disease. Other diseases are caused by …
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 …
Educational Resources
Gene therapy is an experimental technique for treating disease by altering the patient's genetic material.
Genetic Disorders
Attention Deficit Hyperactivity Disorder (ADHD) is a neurological disorder that affects a person's ability to control their behavior and pay attention to tasks.
… or 3) brain injuries occuring before, during or after birth. … Brain images of children with ADHD may show …
Staff
Diana Bianchi is an adjunct investigator in the Medical Genetics Branch at the National Human Genome Research Institute.
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… improve brain function, learning and memory after birth. Noninvasive Prenatal Genomic Testing Since its … have demonstrated significant oxidative stress, cell cycle defects and neuroinflammation that manifests in utero. Our … Down Syndrome: Growth Restriction, Early Mortality, Heart Defects, and Delayed Development . PLoS One . Dec 8;11(12). …
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
Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder.
… are diagnosed with progeria within the first two years of birth, and virtually all of these children develop health … a dozen mice with the progeria-causing mutation soon after birth. The gene editor successfully restored the normal DNA …