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Educational Resources
A birth defect is an abnormality present at birth.
birth defect … a birth defect is an abnormality present at birth . … congenital defect , genetic mutation, pregnancy, newborn testing … a birth defect is an abnormality present at birth . also called …
Educational Resources
Holoprosencephaly is a developmental disorder that results when the forebrain of the embryo fails to divide and form the right and left halves of the brain.
… of the brain. … holoprosencephaly, developmental disorder, birth defect … holoprosencephaly is a developmental disorder … often the deformities cause babies to die before birth . in mild cases, babies are born with near-normal brain …
Educational Resources
Congenital conditions are those present from birth.
… congenital … congenital conditions are those present from birth . … birth defects , genetic mutation, newborn screening, genetics, …
Educational Resources
Sickle cell disease is a hereditary disease seen most often among people of African ancestry.
… most often among people of african ancestry. … autosome, birth defect , gene, inherited, mutation, protein, recessive …
Educational Resources
Progeria is a rare disease characterized by accelerated aging.
… is a rare disease characterized by accelerated aging. … birth defect , cell, gene mutation, nuclear membrane, …
Educational Resources
Polydactyly is an abnormality characterized by extra fingers or toes.
… by extra fingers or toes. … autosomal dominant, dominant, birth defect , mutation, syndrome … polydactyly is an …
Educational Resources
A proband is an individual being studied or reported on.
… a proband is an individual being studied or reported on. … birth defect , inherited, carrier, carrier screening, genetic …
15 Ways Genomics Influences Our World
Genomics is revolutionizing health assessments before birth.
… genomics is revolutionizing health assessments before birth . … did you know that dna sequencing now allows us to … about 50 percent of down syndrome children have heart defects , nipt can be helpful by giving notice to the … team, who may need to plan for surgery soon after birth . parents can also begin to prepare for raising a child …
Staff
Dr. Lawrence Brody is a senior investigator in NHGRI's Social and Behavioral Research Branch and director of NHGRI's Division of Genomics and Society. ​
… metabolic pathways and cause disorders such as cancer and birth defects . his laboratory focuses on identifying genetic … on the genetics of neural tube defects (ntds) and other birth defects . ntds and congenital heart defects are some of …
Genetic Disorders
Holoprosencephaly is a disorder caused by the failure of the the embryonic forebrain to sufficiently divide into the double lobes of the cerebral hemispheres.
… holoprosencephaly is a relatively common birth defect of the brain, which often can also affect facial … clefts of the lip and roof of the mouth, as well as other birth defects . … holoprosencephaly (hpe) is a relatively common …