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Home > Conditions and Diseases > Genetic Disorders
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
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
seeAbility - Juvenile Battens Disease
An in depth article on this disorder, includes the stages of the disease and the symptoms.
http://www.seeability.org
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
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
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
The National Organization for Albinism and Hypopigmentation
NOAH is a national non-profit organization of people with albinism, their families, and professionals who work with them.
http://www.albinism.org
University of Texas Southwestern Medical Center at Dallas
An article about a patient with McArdle's disease.
http://www.utsouthwestern.edu
XLH Network
Patient support group for XLH, a genetic condition also known as X-Linked Hypophosphatemia, X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets.
http://www.xlhnetwork.org/
Your Genes, Your Health
The DNA Learning Center's multimedia guide to genetic disorders. Complete in depth articles about each disease listed.
http://www.ygyh.org/

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