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| Genetic Disorders
on Health Directory
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Alport Syndrome
Information about this hereditary renal disease. German site with English translation.
http://www.alport.de |
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Dr. Greene's HouseCalls
A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease.
http://www.drgreene.com/ |
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DS Network, Inc.
DS Network is a 501(c)3 parent run organization here in Arizona. Our Purpose is to provide information to assist people with Down Syndrome to better understand and arrange for services, and to provide networking opportunities for people with DS and their families.
http://dsnetworkaz.org |
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Ectodermal Dysplasia Society
A support group for those with Ectodermal Dysplasia (including Incontinentia Pigmenti) based in the UK.
http://www.ectodermaldysplasia.org. |
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Gene Clinics
Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients.
http://www.geneclinics.org/ |
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Genetic and Rare Conditions
Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z.
http://www.kumc.edu/ |
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Genetic Disorders
Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis.
http://www.ctds.info/ |
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NDI Foundation
The Nephrogenic Diabetes Insipidus Foundation is dedicated to informing and helping the NDI community.
http://www.ndif.org |
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Rett Syndrome Association UK (RSAUK)
Rett syndrome is a complex neurological disorder. It affects mainly girls, resulting in profound and multiple disability. Our national charity provides information and advice for families and professionals. Our services include a quarterly magazine, Family days, a Family Weekend, self-help support groups across the UK, and local work with professionals to establish knowledge and good practice in care and management. Our Family Support Workers provide proactive support and information to families and carers. We fund research and work in partnership internationally. We rely on donations and grants for our income. Contact Administration Manager Address 113 Friern Barnet Road, London, N11 3EU Tel 0870 770 3266 (local callers: 020 8361 5161) Hours 9am – 5pm : 24 hr answerphone Fax 0870 770 3265 (local callers: 020 8368 6123) Email info@rettsyndrome.org.uk Website www.rettsyndrome.org.uk
http://www.rettsyndrome.org.uk |
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RING14 NO PROFIT SUPPORT GROUP FOR RESEARCH ON RARE NEUROGENETIC DISEASES
AIMS AND PURPOSES OF OUR ASSOCIATION 1) IDENTIFYING AND CONNECTING ALL FAMILIES WITH CHILDREN AFFECTED BY THE RING 14 SYNDROME IN ORDER TO OFFER THEM THE SUPPORT OF OUR ASSOCIATION. 2) ESTABLISHING THE FIRST MEDICAL AND SCIENTIFIC ‘DATA BANK’ ON THIS SYNDROME 3) DESIGNING A PROTOCOL OF MEDICAL SURVEY FOR RING 14 SYNDROME PATIENTSAND INVESTIGATING THE CORRELATION BETWEEN CLINICAL MANIFESTATIONS ANDMOLECULAR GENETIC CHANGES. 4) PROMOTING ALL SOCIAL, POLITICAL AND SCIENTIFIC ACTIVITIES FOR DIAGNOSIS AND RESEARCH OF THE MOST EFFECTIVE THERAPIES TO COMBAT RING 14 SYNDROME. 5) RAISING FUNDS TO PROMOTE BASIC AND CLINICAL RESEARCH ON RING14 SYNDROME, ALSO BY FUNDING SCHOLARSHIPS FOR A PROPER TREATMENT OF RING14 SYNDROMEAND RELATED NEUROGENETIC DISORDERS. 6) CREATING A NETWORK OF CONSULTANTS INCLUDING DOCTORS, SCIENTISTS, HEALTH WORKERS INVOLVED IN THE PROBLEMS RELATED TO RING 14 SYNDROME.
http://ring14.com |
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Shwachman-Diamond Syndrome Foundation
Shwachman Diamond Syndrome Foundation is an established non profit supporting families dealing with SDS. We also raise money to fund research for a future cure. We disseminate medical information to families and physicians.
http://www.shwachman-diamond.org |
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The Children's Brittle Bone Foundation
The Children's Brittle Bone Foundation is a 100% volunteer organization that raises money to fund research for Osteogenesis Imperfecta.
http://www.cbbf.org |
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The Genetics of Autism
Dr. Michael J. Dougherty examines why research into cures for autism is difficult and the role of genetic and environmental factors on those with the disorder.
http://www.actionbioscience.org |
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