The Smith Family Clinic for Genomic Medicine is part of the

Undiagnosed Disease Alliance:

Angel’s Hands Foundation  https://angelshands.org/about-us/

Aware of Angels http://awareofangels.org/contact-us/

Epilepsy Association of Utah http://epilepsyut.org/

Global Genes https://globalgenes.org/

National Ability Center  http://www.discovernac.org/

National Organization for Rare Disorders (NORD)  http://rarediseases.org/

NGLY1  https://www.ngly1.org/

Nicholas Volker One in a Billion Foundation http://www.oneinabillionic.com/

Rare & Undiagnosed Network (RUN) http://rareundiagnosed.org/

RUNmyDNA https://runmydna.com/

SWAN US  http://swanusa.org/

Tute Genomics  https://tutegenomics.com/

Undiagnosed Disease Network  https://www.genome.gov/27550959/undiagnosed-diseases-network-udn/

Undiagnosed Film  http://www.undiagnosedfilm.com/

Wilhelm Foundation http://www.wilhelmfoundation.org/wf.aspx

Other Organizations that support undiagnosed disease:

American Society of Gene and Cell Therapy (ASGCT)  Advance knowledge, awareness, and education leading to the discovery and clinical application of genetic and cellular therapies to alleviate human disease.

FasterCures www.fastercures.org

Genetic Alliance  www.geneticalliance.org a nonprofit health advocacy that includes over 1200 disease-specific advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations.

Genetic and Rare Disease Information Center www.rarediseases.info.nih.gov/GARD

Global Genes Project www.globalgenes.org  a nonprofit focused on patient advocacy. One of the largest organizations of its kind, Global Genes offers valuable toolkits to help patients and advocates with a variety of topics.

NIH’s Global Rare Diseases Patient Registry and Data Repository Program https://grdr.ncats.nih.gov/

Office of Rare Disease Research www.rarediseases.info.nih.gov

RareConnect www.rareconnect.org a partnership between NORD and the European Organisation for Rare Diseases (EURORDIS) to connect rare disease patients globally. At press time, the site hosted more than 80 rare disease communities.

Rare Diseases Clinical Research Network www.rarediseasesnetwork.epi.usf.edu

Rare Disease Legislative Advocates (RDLA) www.rareadvocates.org

Rare Disease Day  www.rarediseaseday.org

Rare Disease: Kleefs Syndrome: http://www.kleefstrasyndrome.org/

 

Support Groups for Developmental Delays, Seizures, Birth Defects:

http://www.firstsigns.org/delays_disorders/other_disorders.htm

http://www.ninds.nih.gov/disorders/cephalic_disorders/detail_cephalic_disorders.htm

http://www.cdc.gov/ncbddd/developmentaldisabilities/features/birthdefects-dd-keyfindings.html

https://www.nlm.nih.gov/medlineplus/geneticsbirthdefects.html

Fabry Support and Information Group raises awareness of Fabry disease and its symptoms. The FSIG website provides mutual self-help by linking patients and family members/caregivers. Visit their website: http://www.fabry.org/

National Gaucher Foundation a non-profit, established in 1984 is dedicated to promoting education and awareness of Gaucher Disease. http://www.gaucherdisease.org

National Niemann-Pick Disease Foundation supports and promotes research to find treatments and a cure for all types of Niemann-Pick Disease, and we provide support services for individuals and families affected by NPD. http://www.nnpdf.org

National Tay-Sachs & Allied Diseases Association leads the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives. http://www.ntsad.org

American Porphyria Foundation is dedicated to improving the health and well-being of individuals and families affected by Porphyria. http://www.porphyriafoundation.com/basi

International Center for Fabry Disease at MSSM The Center provides Fabry patients and their families with information about the symptoms, diagnosis, management, and enzyme replacement therapy for Fabry disease.

Jewish Genetic Disease Consortium The GDF has strengthened its alliance with the Jewish Genetic Disease Consortium, a group of 15 Jewish genetic disease organizations of which the GDF was a founding member, to bring awareness to the Ashkenazi population worldwide.

American Porphyria Foundation is dedicated to improving the health and well-being of individuals and families affected by Porphyria.

Fabry Support and Information Group is to raise awareness of Fabry disease and its symptoms. The FSIG website provides mutual self-help by linking patients and family members/caregivers.

Matthew Forbes Romer Foundation The Mathew Forbes Romer Foundation emerged in 1998 — inspired by the strength of a little boy with a fatal genetic disease — to lead the fight for education, quality assurance, and research of children’s genetic diseases of the brain.

Josilyn Faith’s Foundation Josilyn was born with Prader-Willi Syndrome in 2002 and her foundation (a 501[c][3]) was formed soon after. The mission of JFF is to raise awareness of Prader-Willi Syndrome and to raise money to promote research to find answers about and an effective treatment for PWS.

Mount Sinai Sickle Cell Disease Program This is a NIH-funded program that sponsors research projects and provides clinical and psychosocial services to serve the patients from the sickle cell disease community.

Resources for Genetic Disease

Society for Neuroscience https://www.sfn.org/

American College of Medical Genetics and Genomics https://www.acmg.net/

Genetic Disease Foundation http://www.geneticdiseasefoundation.org/ has link to Genetic Disease library: http://www.geneticdiseasefoundation.org/genetic-diseases/

National Society of Genetic Counselors  http://nsgc.org/

Know Your Genes Foundation http://www.knowyourgenes.org/

UR Our Hope http://urourhope.org/  

The Wilhelm Foundation; http://www.wilhelmfoundation.org/wf.aspx

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