Search Results
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 …
Explainer
Appropriate use of population descriptors in research is a critical scientific issue that is important for advancing genomic science and improving healthcare across human populations.
… … Bibliography  Protocol - Biological Sex Assigned at Birth . PhenX.  Hublin et al . New fossils from Jebel … language spoken, nationality, geographic origin, sex at birth, gender identity, disability status and age. Each … or intersex when referring to biological sex assigned at birth. 1 When referring to age, we use numerical values like …
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 …
Genetic Disorders
Achondroplasia is a disorder of bone growth and the most common form of disproportionate short stature.
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 …