25th Anniversary Annual Conference Exhibitors
American Society of Human Genetics
http://www.ashg.org
The American Society of Human Genetics (ASHG) is the primary professional membership organization for human genetics specialists worldwide. ASHG's mission is to share research results through the Annual Meeting and in the American Journal of Human Genetics; provide genetics education resources; and advocate for research funding and scientific policy support. For more information, visit http://www.ashg.org.
GeneDx
www.genedx.com
GeneDx tests for more than 350 Mendelian disorders using DNA sequencing and deletion/duplication analysis of the associated gene(s). GeneDx also offers oligonucleotide microarray-based testing for chromosomal abnormalities, prenatal diagnosis, and testing for cardiac disorders. Services include mutation analysis, carrier testing, and mutation confirmation.
MSUD Family Support Group
www.msud-support.org
The Maple Syrup Urine Disease Family Support Group is dedicated to providing opportunities for support and personal contact for those with MSUD and their families, distributing information and raising public awareness of MSUD, and strengthening the liaison between families and professionals.
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Newborn Screening and Translational Research Network (NBSTRN) |
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As part of the Newborn Screening Saves Lives Act, the National Institute for Child Health and Human Development (NICHD) awarded a 5-year contract to the American College of Medical Genetics (ACMG) to create the Newborn Screening Translational Research Network (NBSTRN) in October 2008. The basic goals of the NBSTRN focus on the development of resources that facilitate the ability of researchers to become involved in newborn screening. Key resources include the Virtual Repository of Dried Blood Spots (VRDBS), the Long-Term Follow-Up (LTFU) data sets, an electronic data collection tool for the collection and storage of (LTFU) data, model informed consent modules, and IRB information aimed at assisting new investigators.
Office of Rare Diseases Research, NIH
http://rarediseases.info.nih.gov/Default.aspx
Office of Rare Diseases Research (ORDR) was established in 1993 within the Office of the Director of the National Institutes of Health, the federal focal point for biomedical research. ORDR coordinates and supports rare diseases research, responds to research opportunities for rare diseases, and provides information on rare diseases. Public Law 107-280, the Rare Diseases Act of 2002, established the ORDR by statute.
Sanford Research- Coordination of Rare Diseases
www.sanfordreserach.org/cords
CoRDS is a rare disease registry to include all rare diseases. Through the establishment a central registry of persons with a confirmed of any rare disease, the CoRDS registry will help accelerate research by providing a resource for the identification and recruitment of research participants.
Therapeutics for Rare & Neglected Diseases Program, NIH
http://trnd.nih.gov/
Therapeutics for Rare and Neglected Diseases (TRND) is part of a congressionally mandated effort to discover and develop therapies for rare and neglected diseases. NIH Rapid Access to Interventional Development (NIH-RAID) makes available late-stage preclinical resources for therapies for all diseases. Both programs generate data in support of Investigational New Drug Applications (IND) by awarding access to in-house and contract therapy development resources. Regulatory affairs assistance is also available.
