Search Results
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… Antiphospholipid Syndrome (APS) is a disorder characterized by elevated levels of multiple … antibody syndrome and sometimes Hughes syndrome, is a disorder characterized by elevated levels of multiple … APS. If the individual has no known underlying autoimmune disorder, the person is said to have primary APS. If the …
Talking Glossary
Gender involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they received at birth.
… involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they … involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they … involves how a person identifies along a broad, fluid spectrum, rather than strictly by the sex assignment they …
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study is exploring the … suggested that there may be a genetic component to this disorder. Individuals diagnosed with ADHD may have close blood relatives with the disorder. Scientists believe that ADHD is a complex disorder …
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.
… as well as other birth defects. Holoprosencephaly is a disorder caused by the failure of the prosencephalon (the … have somewhat divided, causes an intermediate form of the disorder. Lobar, in which there is considerable evidence of … are helpful.  … The prognosis for individuals with the disorder depends on the severity of the brain and facial …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… Sequencing … Related Content … NIH team discovers genetic disorder causing strokes and vascular inflammation in …
News Release
Researchers identified connections in the brain that children with attention deficit hyperactivity disorder (ADHD) may inherit from their parents.
… of families affected by Attention Deficit Hyperactivity Disorder (ADHD), National Institutes of Health (NIH) … may inherit from their parents and are linked to the disorder. … One of the most common childhood neuropsychiatric … influences these connections that are so important in the disorder. Eventually, this work might help us identify new …
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
… Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … … Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called … are so mild that they never have any problems from the disorder. Type 2 and 3 do affect the nervous system. Type 2 …
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… his mother Rebecca, has attention-deficit/hyperactivity disorder (ADHD). Rebecca's life must be highly organized for … to help these kids." The NIH defines ADHD as "a brain disorder marked by an ongoing pattern of inattention and/or … the heritability of attention-deficit hyperactivity disorder or ADHD. ​ … Attention deficit hyperactivity …
For Patients and Families
Genetic professionals provide information and support to individuals or families who have genetic disorders or may be at risk for inherited conditions.
… Genetic professionals: Assess the risk of a genetic disorder by researching a family's history, evaluating … or medical researcher - who specializes in your disease or disorder. A medical geneticist has completed a fellowship or … referred to a physician who is a specialist in the type of disorder you have. For example, if a genetic test is positive …
Policy Issues
Patients with genetic disorders and members of the public have diverse about germline genome editing.
… in an effort to modify a gene that can cause the blood disorder beta thalassemia . The researchers only allowed the … Editing, Gene Editing, DNA Editing, Gene Therapy, Genetic Disorder, Genetic Disease, CRISPR-Cas9, CRISPR … Patients …