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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 … CMT is an inherited neurological disease characterized by a slowly … gene (see Gene Discovery Opens Door to Further Research In Inherited Neurological Disorders [News Release]) is …
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. … location on a chromosome. Markers can help link an inherited disease with the responsible genes. …
Educational Resources
A pedigree is a genetic representation of a family tree that diagrams the inheritance of 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, … Autism - or more precisely the autism spectrum disorders (ASDs) - represent a broad group of developmental disorders characterized by impaired social interactions, …
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 … available. (See: Frequently Asked Questions About Genetic Disorders ) Genomics is helping researchers discover why some …
Educational Resources
Fragile X syndrome is a hereditary disorder affecting mostly males.
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. … 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.
News Release
Researchers and families are investigating the heritability of attention-deficit hyperactivity disorder or ADHD.
… to help these kids." The NIH defines ADHD as "a brain disorder marked by an ongoing pattern of inattention … A key aspect of Dr. Shaw's research involves studying the brain connectome. The connectome is made up of the … structural, and physical connections between different brain regions, allowing those regions to communicate and work …