Home Page

Research
Emphasis Areas

Research Affiliates

Core Services
Behavioral Science Core

Brain Imaging Core

Cellular Morphology Core

Genetics Core

Infant Primate Research Laboratory Core

Instrument Development Laboratory Core

CHDD Research Domain:
Developmental and Molecular Genetics

Genetic factors account for a significant portion of developmental disabilities. Even milder forms of developmental disability are increasingly known to have a genetic basis. Although much progress has been made in tracking genes responsible for various developmental disabilities, much more knowledge is needed in order to prevent and treat genetically related problems associated with a wide variety of disorders. CHDD researchers are identifying genes, studying their molecular biology, developing techniques for gene therapy, and evaluating pharmacological intervention targets to specific genetic pathways.

Ongoing studies seek the identity of genes associated with specific disorders including autism, learning disabilities and hereditary neuropathies. Studies of the genetic bases of deafness and epilepsy are also underway.

Studies of gene regulation mechanisms involved in immune response are progressing at CHDD. Infants with immature or failed immune systems are prey to infections that can cause neurological impairment and mental retardation. Researchers are investigating the association between abnormal immune system function and abnormal central nervous system function and studying the genetic factors involved.

Research is also focused on understanding the cellular and molecular basis for neonates' susceptibility to infection by intracellular pathogens such as herpes simplex virus, Group B Streptococcus, tuberculosis and Listeria, which can have significant neurologic consequences. The molecular basis for why adult T cells protect against infectious agents more readily than neonatal T cells is also of interest. Researchers studying pediatric AIDS are working to develop therapeutic strategies to prevent the transmission of HIV from mother to fetus.

Research continues on the common elements of various neurodevelopmental disorders, including the hereditary ataxias, caused by gene mutations called trinucleotide repeat expansions, in which symptoms appear earlier and more severely from generation to generation. Researchers are investigating the genetic and epigenetic mechanisms underlying X-linked disorders, including fragile X syndrome, the most common known inherited cause of mental retardation. Linkage analysis studies and molecular cloning methods are being used to locate genes that cause a number of inherited neurological disorders, including Charcot-Marie-Tooth neuropathy and Joubert syndrome. CHDD researchers are also seeking the genetic bases of various forms of craniofacial malformation and associated developmental problems and investigating the molecular basis of numerous neurodegenerative disorders.

Investigators: