Resource Center: genetic medical research

Autism Spectrum Disorders (ASD) are a group of related brain-based disorders that affect a child's behavior, social, and communication skills. Approximately 1 in 150 children are diagnosed with an ASD. (From Their Website)

Evaluation of the Newborn with Single or Multiple Congenital Anomalies: A Clinical Guideline

In August 2002, Myriad launched an enhancement to the BRACAnalysis test to detect five common large rearrangements. The BRACAnalysis Rearrangement Test, or BART, launched in August 2006, is designed to detect large rearrangements beyond these five. For patients who meet the defined clinical criteria, BART will automatically be performed concurrently with the sequence analysis of Comprehensive BRACAnalysis®.

A journal article about the BRCA 2 Gene. The article details cloning, gene structure, mapping, gene function, role in DNA repair, and molecular genetics.

A review on genetic privacy and confidentiality by Mark Rothstein, JD.

Founded in 1994, CenterWatch is a trusted source and global destination for clinical trials information for both professionals and patients. (From Their Website)

Recommendations for Standards for Interpretation of Sequence Variations

The GeneTests Web site is a publicly funded medical genetics information resource developed for physicians, other healthcare providers, and researchers, available at no cost to all interested persons. (From Their Website)

Newborn screening has long been recognized as an essential, life-saving, and effective preventive public health service that has identified thousands of babies each year in the United States who are born with a genetic or metabolic disorder. In many cases, detecting these disorders spells the difference between life and death for these babies; in other instances, identifying newborns with a disorder means that they can be treated and thus not face life-long disability or cognitive impairment. Now, with the advent of new screening technology, babies can be tested—and treated— for many more disorders than was possible in the past. (From Their Website)

The Newborn Screening Branch, Division of Laboratory Sciences, operates the Newborn Screening Quality Assurance Program (NSQAP). NSQAP is a voluntary, non-regulatory program to help state health departments and their laboratories maintain and enhance the quality of test results. The program is operated in partnership with the Association of Public Health Laboratories. The program provides services to more than 73 domestic newborn screening laboratories, 29 manufacturers of diagnostic products, and laboratories in 58 countries. NSQAP has been the only comprehensive source of essential quality assurance services for dried-blood-spot testing for more than 29 years. (From Their Website)