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National Newborn Screening and Genetics Resource Center web site: GeNeS-R-US, (Genetic and Newborn Screening Resource Center of the United States). The National Newborn Screening and Genetics Resource Center (NNSGRC) is a cooperative agreement between the Maternal and Child Health Bureau (MCHB), Genetic Services Branch and the University of Texas Health Science Center at San Antonio (UTHSCSA), Department of Pediatrics. Provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.

Stanford Health Library - Stanford Medicine - Genetics and Birth Defects -- Hydrocephaly - Microcephaly and more

Charcot-Marie-Tooth, or CMT, is the most commonly inherited neurological disorder and is found world-wide in all races and ethnic groups. Discovered in 1886 by three physicians, Jean-Martin-Charcot, Pierre Marie, and Howard Henry Tooth, CMT affects an estimated 2.6 million people. The CMTA is a 501(C)(3)nonprofit organization founded in 1983 whose goals are patient support, public education, promotion of research and ultimately the treatment and cure of CMT. This international group of men and women are noted CMT experts in neurology, genetics, orthopedic surgery, physiatry, physical therapy and podiatry.

Study to create a bio-repository of blood samples from patients and healthy subjects who are participating in NINDS motor learning studies. A variety of genes that may affect motor learning are being increasingly identified, and variations among these genes, referred to as polymorphisms, may help explain individual differences.

National Institutes of Health NIH Office of Rare Diseases Research. Web site aims to answer questions about rare diseases and the activities of the ORDR for patients, their families, healthcare providers, researchers, educators, students, and anyone with concern for and interest in rare diseases. The site provides information about ORDR-sponsored biomedical research, scientific conferences, and rare and genetic diseases. It also serves as a portal to information on major topics of interest to the rare diseases community.

PubMed Abstract: Microcephaly: general considerations and aids to nosology

Dolan DNA Learnign Center - The mission of the Dolan DNA Learning Center is to prepare students and families to thrive in the gene age.

Fragile X syndrome is the leading hereditary cause of developmental disabilities in all populations. The absence of a functional fragile X gene shuts off production of a special protein in the brain needed for normal cognitive development. Without this protein, children with the syndrome will never learn normally, despite hours of therapy and rehabilitation.

Responsible for enforcing federal laws that make it illegal to discriminate against a job applicant or an employee because of the person's race, color, religion, sex (including pregnancy), national origin, age (40 or older), disability or genetic information. It is also illegal to discriminate against a person because the person complained about discrimination, filed a charge of discrimination, or participated in an employment discrimination investigation or lawsuit.

The National Human Neural Stem Cell Resource provides neural stem cells harvested from the post-natal, post-mortem, human brain to the research community for stem cell research. Several brain areas as well as cultures from normal and genetically mutant specimens are represented in the Resource.

"The purpose of this study is to collect detailed information about the characteristics and genetics of a large number of individuals with epilepsy"

Completed clinical study compared the treatment effects of rabeprazole and lansoprazole depending on the genetic constitution of a enzyme in the liver in treating reflux esophagitis and the cure rate on endoscopy after treatment with rabeprazole 20 mg or lansoprazole 30 mg once daily for 4 to 8 weeks.

NICHD Center for Developmental Biology & Perinatal Medicine (CDBPM). The CDBPM supports scientists who are advancing fundamental and clinical knowledge about maternal health and problems of child development, including preterm labor and birth, intellectual and developmental disabilities, congenital and genetic disorders, fetal growth restriction, and other conditions. The Center and its programs aim to maximize human development, prevent diseases and disorders, and improve diagnoses, therapy, and clinical care.

PubMed Study Abstract: Evolution of Primary microcephaly genes and the enlargement of primate brains.

National Library of Medicine - National Institute of Health - PubMed Abstract - Brain magnetic resonance imagine in suspected extrapyramidal cerebral palsy; observations in distinguishing genetic-metabolic from acquired causes

Neuromuscular Disease Center - Treats over 2,000 outpatients each year in our Neuromuscular Clinic

Dedicated to conquering more then 40 neuromuscular diseases that affect a million Americans. Nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. Provides comprehensive health care and support services, advocacy and education

The Vanderbilt Kennedy Center for Research on Education and Human Development was one of twelve original members of a national network of Mental Retardation Research Centers created by the Kennedy administration in 1963. Our mission is to improve the quality of life of persons with disorders caused by the disruption of typical development. We support and apply scientific research to bring better services and training to the community.

Mayo study to evaluate a potential new treatment for epilepsy. Researchers want to learn if the investigational drug called perampanel is safe and can help people with partial seizures who are already taking seizure medications and the current seizure medications are not enough to control those seizures. Perampanel is being tested as a possible add-on drug for people with seizures who are taking other seizure medications.

Mayo study to look for genes that are the cause of epilepsy and to look for genes that have an impact on the effectiveness of over the counter and prescription medicines used to treat epilepsy.