Search Results
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.
… is a relatively common birth defect of the brain, which often can also affect facial features, including … (HPE) is a relatively common birth defect of the brain, which often can also affect facial features, including … the double lobes of the cerebral hemispheres. … Genetic Disorders …
Genetic Disorders
Antiphospholipid Syndrome is a disorder characterized by elevated levels of antibodies that are associated with clots in the arteries and veins.
… or to affect anticoagulant (anti-clotting) therapy. Skin Disorders Certain skin conditions have also been observed in … (a blood clot that forms in a blood vessel of the brain), embolic stroke (stroke caused by a blood clot that … best by either a dominant (one copy of the altered gene inherited from one parent causes the condition) or codominant …
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.
… Charcot-Marie-Tooth disease (CMT) is an inherited neurological disease characterized by a slowly … of sensation in the limbs, fingers, and toes. … CMT is an inherited neurological disease characterized by a slowly … Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is implicated in CMT type 2D, a …
Staff
Barbara Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR).
… Officer and Executive Director of the NIH Center for Inherited Disease Research (CIDR) , a trans-NIH program that … Thomas is a scientific review officer for the Center for Inherited Disease Research (CIDR). … Barbara Thomas, genomic data sharing, Center for Inherited Disease Research (CIDR), peer review, grant …
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 interactions, … features), small head size (microcephaly) or structural brain malformations. … Diagnosis of autism is based on … diagnosed? … What is the treatment for autism? … Is autism inherited? … About Autism … Autism is a group of …
Fact Sheets
Genetics refers to the study of genes and their roles in inheritance. Genomics refers to the study of all of a person's genes (the genome).
… of cells and functions of the body. Examples of genetic or inherited disorders include cystic fibrosis (See: Learning About Cystic … such as sickle cell anemia and cystic fibrosis are inherited in families, what screening and testing options are …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
Clinical Research
The Attention Deficit/Hyperactivity Disorder (ADHD) Genetic Research Study explores the genetic factors contributing to ADHD to improve treatment in the future.
… at least two genes. Non-genetic causes such as abnormal brain development, brain injury or environmental factors are also believed to …
Educational Resources
Gregor Mendel was an Austrian monk who in the 19th century worked out the basic laws of inheritance, even before the term "gene" had been coined.
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 … to find the variants and genes underlying Mendelian disorders. … The discovery of the genes and genetic variants that underlie human Mendelian disorders is of significant biomedical relevance. The …