Useful information: genetics

Patient information leaflets

• Your clinical genetics appointment
• Hereditary haemochromatosis
• Cystic fibrosis
• Huntington's disease
• Testing for the Huntington disease gene
• Hereditary non-polyposis colorectal cancer (HNPCC)
• Familial adenomatous polyposis (FAP)
• MYH associated polyposis
• BRCA genes inherited breast and ovarian cancer
• Risk reducing mastectomy
• Risk reducing oophorectomy
• Chorionic villus sampling
• The amniocentesis test
• Von Hippel-Lindau disease (VHL)

Websites

General information

• Genetic Alliance UK
  A national charity working to improve the lives of patients and families affected by all types of genetic conditions.

Support group websites

General support

• Antenatal Results and Choices (ARC)
  Helping parents and healthcare professionals through antenatal screening and its consequences.
• Contact a family
  

  Contact is a charity for families with disabled children. Their vision is to bring families together to support each other, and help families to campaign, volunteer and fundraise to improve life for themselves and others.

• SWAN UK
  

  Support for families affected by a syndrome without a name.

• Unique
  Support group for anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder.

Cancer support

• AMEND

  The Association for Multiple Endocrine Neoplasia Disorders (AMEND) is a patient group set up to support and inform anyone affected by or interested in multiple endocrine neoplasia disorders and their associated endocrine tumours. AMEND is run by patients, for patients.

• BRCA umbrella
  Bringing together those dealing with a BRCA or other gene mutation, a high risk or hereditary cancer.
• Cancer Research UK
  Cancer Research UK is dedicated to preventing, controlling and curing cancer through research, as well as providing up-to-date information for the public.
• Macmillan Cancer Support
  A source of support for everyone affected by cancer, their family and friends.

• Wessex Cancer Trust
  A local charity aiming to help people living with cancer by offering emotional, physical and practical support.

Cardiac disorder support

• British Heart Foundation
  Support and information for everyone living with a heart condition in the UK.

• Cardiomyopathy UK
  Specialist charity for people affected by cardiomyopathy, providing support and information services for families and healthcare professionals.

Rare disorder support

• Haemochromatosis UK
  Haemochromatosis UK provide support and education for people living with genetic haemochromatosis.
• Huntington’s Disease Association (HDA)
  

  A source of support and advocacy for people affected by Huntington’s disease and education for families and healthcare professionals.

• Huntington’s Disease Youth Organization (HDYO)
  

  Provides information and education, along with support specifically for young people impacted by Huntington’s disease.

• MNDA
  MNDA provides information about motor neurone disease, what help is available, and support for families affected and professionals.
• Muscular Dystrophy Campaign
  

  A UK charity dedicated to beating muscular dystrophy and other related conditions by finding treatments and cures and to improving the lives of everyone affected by them.

• Nerve Tumours UK
  Provides support for people in the UK who have neurofibromatosis (NF1 and NF2), schwannomatisos and Legius syndrome.
• PTEN Research Foundation
  As well as funding medical research, the PTEN Research Foundation aims to facilitate those affected by PTEN Hamartoma Tumour Syndrome (PHTS) to find access to the support and information they need to improve the management and monitoring of their condition.

• PURA Syndrome Foundation
  The PURA Syndrome supports and educates patients and their families, providing a global community. The Foundation also provides access to relevant medical research studies.

Research

• 100,000 Genomes Project
  The project will sequence 100,000 genomes from around 70,000 people. Participants are NHS patients with a rare disease, plus their families, and patients with cancer.