American Society of Human Genetics (ASHG)
http://www.ashg.org
Founded in 1948, The American Society of Human Genetics (ASHG) is the primary professional membership organization for human genetics specialists worldwide. The nearly 8,000 members of ASHG include researchers, academicians, clinicians, laboratory practice professionals, genetic counselors, nurses, and others involved in or with a special interest in human genetics. The Society’s mission is to serve research scientists, health professionals, and the public by providing forums to: (1) share research results through the Society’s Annual Meeting and in The American Journal of Human Genetics (AJHG); (2) advance genetic research by advocating for research support; (3) educate current and future genetics professionals, healthcare providers, advocates, policymakers, educators, students, and the general public about all aspects of human genetics; and (4) promote genetic services and support responsible social and scientific policies.
Consilience Software
http://www.consiliencesoftware.com
Consilience Software’s Maven Newborn Screening Solutions allow genetic screening, birth defects, and hearing screening within the same technology solution. This results in ease of use by hospitals, labs, and public health staff and XML-based interoperability for electronic data interchange. With multiple Maven-based projects both nationally and internationally, Consilience Software is one of the leading public health solution vendors.
GeneDx, Inc. provides rapid molecular diagnosis of rare hereditary disorders, serving the needs of patients, physicians, genetic counselors, and researchers worldwide. They offer mutation detection, genotyping, carrier detection, and prenatal diagnosis for over 200 disorders, as well as confirmation in a CLIA lab for mutations identified in the research setting.
Genzyme Corporation
http://www.consiliencesoftware.com
Genzyme Corporation, based in Cambridge, MA, is dedicated to making a major positive impact on the lives of people around the world with serious diseases through innovative products and services.
Kakkis EveryLife Foundation
http://www.CureTheProcess.org
The Kakkis EveryLife Foundation is working to CURETHEPROCESS by creating new science-driven public policy that will improve the regulatory process for rare disorders. Their goal is to give even the rarest diseases access to an accelerated approval process and fulfill more completely the original intentions of the Orphan Drug Act.
March of Dimes
http://www.marchofdimes.com
The mission of the March of Dimes is to improve the health of babies by preventing birth defects, premature birth, and infant mortality. They carry out this mission through research, community services, education, and advocacy to save babies’lives. In the Consumer Genetics Education Network (CGEN) project, the March of Dimes is working with four community groups to develop population-specific genetics education programs to increase genetics literacy and promote lifestyle changes to reduce health risks.
Mercy Medical Airlift
http://www.mercymedical.org
Mercy Medical Airlift operates numerous charitable patient air transportation programs—many providing the transportation.
National Ataxia Foundation
http://www.www.ataxia.org
The National Ataxia Foundation provides education, support services, and neurologist referrals to people with ataxia, their families, caregivers, and the medical community. The Foundation also funds promising research in all the types of ataxias.
National Coordinating Center for the Regional Genetic & NBS Service Collaboratives
http://www.nccrcg.org
The HRSA/MCHB-funded Regional Genetic and Newborn Screening Service Collaboratives (RCs) and their National Coordinating Center (NCC) are working to improve access to local genetic and newborn screening services, information, and resources for individuals and families with heritable disorders. Activities at all levels have engaged consumers and families with new opportunities for continually emerging partnerships.
Office of Rare Diseases Research
http://rarediseases.info.nih.gov
The Office of Rare Diseases Research (ORDR) was established in 1993 within the Office of the Director of the National Institutes of Health (NIH), 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.
PKS Kids/Pallister-Killian Syndrome
http://www.pkskids.net
PKS Kids is a nonprofit organization providing support and education for Pallister-Killian syndrome to parents, therapists, and caregivers. Their mission is to promote research, provide education, and raise awareness within the medical community to ensure early diagnosis of children with Pallister-Killian syndrome (PKS).
