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Email: diana@edsociety.co.uk Website:www.edsociety.co.uk Address: Unit 1 Maida Vale Business Centre, Mead Road, Cheltenham, Glos. GL53 7ER Telephone Number: 01242 261332 Registered Charity Number: 1089135 Prevalence of Ectodermal Dysplasia: Variable according to the specific type of Ectodermal Dysplasia. Patterns include spontaneous mutations, autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive. For Hypohidrotic Ectodermal Dysplasia, inheritance is usually X linked butRead more

Name of Organisation: Cystic Fibrosis Trust Address: Cystic Fibrosis Trust, Second Floor, One Aldgate, London, EC3N 1RE Telephone Number: 020 3795 1555 Email Address: enquiries@cysticfibrosis.org.uk Website: https://www.cysticfibrosis.org.uk/ Registered Charity Number: SC009443 Prevalence of Condition (if applicable):  1:17,000 What is Cystic Fibrosis? Cystic fibrosis is the UK’s most common life-limiting genetic condition. It affects 10,500 people and is caused by a faulty geneRead more

Name of Organisation: CMT United Kingdom Address: 3 Groveley Road, Christchurch, Dorset BH23 3HB Telephone Number: 01202 474203 Email Address: simon@cmt.org.uk Website: cmt.org.uk Registered Charity Number: 1112370 Prevalence of Condition (if applicable): 1:2,500 What is Charcot Marie Tooth (CMT)? Charcot Marie Tooth is a condition that damages the peripheral nerves. It is hereditary. It is progressive, affects people very differently, causes muscles to weaken, chronicRead more

Registered Address: 43 Balton Way, Dovercourt, Harwich, Essex, CO12 4UP Telephone Number: 07805 685342 Email: tonia.hymers@bbsuk.org.uk Email: info@bbsuk.org.uk Website:www.bbsuk.org.uk Registered Charity Number: 1181244  Prevalence of BBS: 1:100,000 What is Bardet-Biedl Syndrome (BBS)? Bardet-Biedl Syndrome is a rare, recessively inherited disorder which affects approximately 1 in 100,000 babies born. The main symptoms of this complex condition are: Visual impairment, often leading to blindness Extra fingersRead more

Name of Organisation: Ataxia UK Address:12 Broadbent Close, Highgate. London N6 5JW Telephone Number: 02075821444 Email Address: jwilliams@ataxia.org.uk Website: www.ataxia.org.uk Registered Charity Number:1102391 Prevalence of Condition (if applicable):  What is Ataxia? The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, X-linked manner or through maternal inheritance if part of a mitochondrial genetic syndrome. The genetic forms of ataxia are diagnosed by family history, physicalRead more

Name of Organisation: Antenatal Results and Choices (ARC) Address: 210 Wandsworth Road, London SW8 2JU Telephone Number:020 7713 7356 Email Address: info@arc-uk.org Website: www.arc-uk.org Registered Charity Number: 1148653 Prevalence of Condition (if applicable):  N/A What support does ARC provide Antenatal Results and Choices (ARC) is a UK-wide charity offering non-directive information and support to parents throughout antenatal testing and its consequences, includingRead more

Name of Organisation: Alex, The Leukodystrophy Address: 45 Peckham High Street, London SE15 5EB Telephone Number: 020 7701 4388 Email Address: info@alextlc.org Website: www.alextlc.org Registered Charity Number: 1106008 Prevalence of Condition (if applicable): at least 1:15,000 What is Leukodystrophy? Leukodystrophies are genetic disorders primarily affecting the white matter of the central nervous system (i.e. the brain or spinal cord). The majority of leukodystrophies are degenerative,Read more

Name of Organisation: Albinism Fellowship UK & Ireland Address:  PO Box 2535, ILFORD, IG1 8NG Telephone Number: 07946457979 Email Address: info@albinism.org.uk Website: www.albinism.org.uk Registered Charity Number: SC009443 Prevalence of Condition (if applicable):  1:17,000 What is Albinism? Albinism is a rare inherited life-long condition. People with Albinism do not produce sufficient melanin and this affects their eyes, skin and hair. People with Albinism are partially sighted,Read more

Address: Advice Hub, 66 Devonshire Road, Cambridge, CB1 2BL Telephone Number: 01223 322897 Email: info@akusociety.org Website: www.akusociety.org Registered Charity Number: 1101052 Prevalence of AKU: 1:500,000 What is Alkaptonuria (AKU)? Alkaptonuria (AKU) is a painful, crippling and degenerative genetic disorder, also known as ‘Black Bone Disease’. It is caused by a missing enzyme which means patients cannot break down a toxic chemicalRead more

Name of Organisation: ACP Group Contact person: Shabana Qureshi Address: 21 – 25 Grantham Road, Sparkbrook, B11 1LU Telephone Number: 0121 687 6767 Email Address: shabana@acpgroup.org.uk Website: ASHIANA COMMUNITY PROJECT (acpgroup.org.uk) Registered Charity Number: 1060789 Please provide a brief description of the support your organisation provides: ACP Group work with the community to bridge those gapsRead more