Search Results
Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… Autism represents a broad group of developmental disorders characterized by impaired social … Autism - or more precisely the autism spectrum disorders (ASDs) - represent a broad group of developmental disorders characterized by impaired social … Autism usually develops before 3 years of age and affects each individual differently and to varying …
Talking Glossary
Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs.
… racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … racism. Scientific racism is a historical pattern of ideologies that generate pseudo-scientific racist beliefs. … in the 19th and early 20th centuries were proponents of such ideologies. By the mid-20th century, …
Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
… The Clinical and Basic Investigations of Methylmalonic Acidemia study will evaluate patients with MMA and related disorders to learn more about the genetic causes of the various types of these inherited metabolic disorders and the medical complications associated with them. …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… (APS) is a disorder characterized by elevated levels of multiple different antibodies that are associated with … syndrome, is a disorder characterized by elevated levels of multiple different antibodies (proteins produced by the … in the arteries and veins). There are two primary classes of antiphospholipid (aPL) antibodies, the antibodies …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
… gene on the X chromosome. Because males have only one copy of the X chromosome, they are more likely to show severe … the mutated gene compared to females (who have two copies of the X chromosome). …
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 features, … closely spaced eyes, small head size, and sometimes clefts of the lip and roof of the mouth, as well as other birth defects. … Holoprosencephaly (HPE) is a relatively common birth defect of the brain, which often can also affect facial features, …
Research Funding
The centers define the state-of-the-art study designs and methods to find variants and genes underlying Mendelian disorders.
… to discover as many genes underlying human Mendelian disorders as possible. In doing so, the CMGs will define the state-of-the-art study designs and methods to find the variants and genes underlying Mendelian disorders. … genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… with international researchers, and the importance of determination in science. … from Oxford University. “Genetics research just made a lot of sense to me. I found it fascinating,” says Dr. Hanchard. … the Center for Precision Health Research and head of the Childhood Complex Disease Genomics Section within the …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately … disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… In a new study of families affected by Attention Deficit Hyperactivity Disorder (ADHD), National Institutes of Health (NIH) researchers have identified different … One of the most common childhood neuropsychiatric disorders, ADHD is highly heritable - meaning that genes play …