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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 …
Educational Resources
A marker is a DNA sequence with a known physical location on a chromosome. Markers can help link an inherited disease with the responsible genes.
… location on a chromosome. Markers can help link an inherited disease with the responsible genes. … Marker, DNA … location on a chromosome. Markers can help link an inherited disease with the responsible genes. … Educational …
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of a trait or disease though several generations.
… a trait or disease though several generations. … Genotype, Inherited, Phenotype, Proband, Family History, Genetic …
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 …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
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 …
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 …
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 …
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.