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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 …
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 …
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.