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Genetic Disorders
Spinal muscular atrophy is a group of inherited disorders that cause progressive muscle degeneration and weakness.
… severe form of spinal muscular atrophy and begins before birth. Usually, the first symptom of type 0 is reduced … first seen between 30 and 36 weeks of the pregnancy. After birth, these newborns have little movement and have … severe form of SMA. Symptoms of type 1 may be present at birth or within the first few months of life. These infants …
Research at NHGRI
The Center for Precision Health Research, formerly Medical Genomics and Metabolic Genetics Branch, studies how health and disease are related to genetic, genomic and metabolic variation.
… targets for common diseases, such as diabetes and common birth defects. Other studies use informatics approaches to …
Genetic Disorders
WAGR syndrome is a genetic condition caused by a deletion of genes located on chromosome 11, often causing eye problems and increased risk of cancer in babies.
… the baby is born. The mother's pregnancy and the baby's birth history are not unusual. Enlargement of the baby's … the irises of the eyes fail to develop normally before birth. This causes partial or complete absence of the round … Research Glaucoma Research Foundation March of Dimes Birth Defects Foundation National Kidney Foundation National Wilms' …
Genetic Disorders
Neurofibromatosis is a genetic neurological disorder that can affect the brain, spinal cord, nerves and skin.
… Those that are skin-related are often present at birth, during infancy and by a child's tenth birthday. From … tomography (CT scan) and blood tests to detect defects in the NF1 gene. For NF2, doctors will pay close … used to diagnose NF1 and NF2. Testing conducted before birth (prenatal) is helpful to identify individuals who have …
Genetic Disorders
Severe Combined Immunodeficiency is a severe, genetic condition of the immune system.
… who was born without a working immune system. Caused by defects in any of several possible genes, SCID makes those … and leads to better outcomes. Testing immediately after birth can be done, either by sequencing DNA if the family … … How is SCID diagnosed? … Can SCID be detected before birth (prenatally)? … Is SCID diagnosis in the newborn period …
Fact Sheets
Cloning describes a number of different processes that can be used to produce genetically identical copies of a biological entity.
… an adult female animal. Ultimately, the adult female gives birth to an animal that has the same genetic make up as the … extraterrestrials, held a news conference to announce the birth of what it claimed to be the first cloned human, a girl … These include an increase in birth size and a variety of defects in vital organs, such as the liver, brain and heart. …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… and natural history of rare diseases, epidemiology of birth defects related to the VACTERL association, and …
MINC
Each clinical setting is unique. Strategies that will work in your environment can be used to design your interventions based on suggested options from the Champions.
… Childrens: Gene Scene Heart Akron Childrens: Gene Scene Birth Defects Akron Childrens: Gene Scene CRC Avera McKennan …
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… Gene Variations Linked to Severity of Zika-Related Birth Defects, Small NIH Study Suggests Notable Accomplishments in …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.