Patient support groups offer a wealth of knowledge and support for patients with genetic diseases and their families. They can advise on current treatments and how you can access these treatments so we encourage you to engage with them.
The AKU Society is a UK patient group offering support and advice to patients diagnosed with the world’s first genetic disease, alkaptonuria (also known as AKU or Black Bone Disease). AKU is a monogentic disease, affecting bone and cartilage, leading to severe early-onset osteoarthritis. The AKU Society is primarily a patient support group but do work with research teams to develop new treatments including in gene and cell therapies. They are currently involved in the DevelopAKUre clinical trials, which are investigating an enzyme inhibitor called nitisinone as a possible treatment for AKU.
Batten Disease Family Association
The Batten Disease Family Association (BDFA) is a national charity which aims to support families, raise awareness and facilitate research into the group of devastating neurodegenerative diseases Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease. The BDFA is based in Hampshire but works with children, young people, families and professionals across the UK.
Our mission is to enable everyone who is affected by Batten disease to live life to the full and to secure the care and support they need until we find a cure. The BDFA offers informed guidance and support to families and the professionals who work with them as well as actively increasing awareness of the disease and funding future research to identify potential therapies and ultimately a cure.
Symptoms include an increasing visual impairment resulting in blindness; complex epilepsy with severe seizures that are difficult to control; myoclonic (rapid involuntary muscle spasm) jerks of limbs; difficulties sleeping; dementia; the decline of speech, language and swallowing skills; and a deterioration of fine and gross motor skills that result in the loss of mobility. Ultimately the child or young person will become totally dependent on their family and carers for all of their needs.
Currently there are no therapies or cure for any form of the disease and death is inevitable, depending on the type of Batten disease, between early childhood and young adulthood.
Contact: Admin ( email@example.com) and Support ( firstname.lastname@example.org)
Phone: General: 01252 416323 | Fundraising: 07876 682589 | Support: 0800 046 9832
Address: The Old Library, 4 Boundary Road, Farnborough, Hants, GU14 6SF
The British Heart Foundation
The British Heart Foundation is a medical research charity with a mission to win the fight against cardiovascular disease and a vision of a world in which people do not die prematurely or suffer from cardiovascular disease.
Our Genetic Information Service (GIS) can provide information if someone or a member of their family has been diagnosed with or has died from what is suspected to be an inherited heart condition.
The service, run by cardiac nurses with training in practical genetics, can facilitate a GP referral for expert assessment in a specialist clinic that deals with inherited heart conditions. This assessment could help to detect and treat an inherited heart condition, potentially saving lives.
Call the GIS on 0300 456 8383. Lines are open from 9am to 5pm Monday to Friday (charged at a rate similar to 01 or 02 calls).
Cavernoma Alliance UK (CAUK) is a national charity serving those with cavernoma, their carers/families,and the medical professionals who treat them. We provide information, support, and services for those affected by cavernoma, and raise awareness of this little-known condition among the public and wider medical community.
Cavernomas are clusters of abnormal, leaky blood vessels found primarily in the brain and spinal cord. There is a genetic form of cavernoma, and it is estimated that cavernoma is familial in 20-30% of cases. Symptoms vary, depend on location and size of the cavernoma, and are exacerbated if they bleed.
At least 1 in 600 people in the population has asymptomatic cavernoma, but for the 300 or more people a year in the UK diagnosed with symptomatic cavernoma, including babies and children, life may be seriously debilitating.
Cavernomas are still poorly understood. They are often misdiagnosed, and there is no good evidence-based treatment for many cases. CAUK works closely with our medical community to further research on cavernoma. In 2014-15, CAUK undertook with the medical profession a ‘Priority Setting Partnership’ aiming to identify the most important research questions that need to be addressed to improve the treatment and management of cavernoma.
Contact: Ian Stuart ( email@example.com)
Phone: +44 (0)1305 213876
Address: Cavernoma Alliance UK, Suites 4 & 5, Somerleigh Gate, Somerleigh Road, Dorchester, Dorset, DT1 1TL
The Ciliopathy Alliance brings together patient support groups, researchers, doctors and allied health professionals representing patients and families living with and affected by ciliopathies – diseases caused by defects in the function or structure of cilia.
Dysfunctional cilia are known to underlie a number of often chronically disabling and sometimes life-threatening genetic conditions. They affect multiple systems, causing blindness, deafness, chronic respiratory infections, kidney disease, heart disease, infertility, obesity and diabetes.
We want to improve the lives of children and adults affected by ciliopathies – syndromes, diseases or conditions caused by dysfunctional or defective cilia.
EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome and help them live a full, active and positive life.
We are the only UK based charity that exclusively represents and supports people with any of the types of EDS. This is regardless of their position on the EDS spectrum.We run regular events and conferences to bring our community together and produce literature and merchandise to increase understanding in managing the condition.
EDS UK strive to educate the medical community promoting joined up medical care, treatment, management and improve accurate diagnosis. We fund vital research to further understand EDS, finding the gene responsible and working towards a cure.
We are a charity that relies on fundraising and donations to continue our work, so your support is greatly appreciated and is essential to ensure we can continue to make our invisible, visible.
Genetic Alliance UK
Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 180 patient organisations.
Our aim is to ensure that high quality services, information and support are provided to all. We actively support research and innovation across the field of genetic medicine.
We seek to raise awareness of genetic conditions and improve the quality of services and information available to patients and families.
We actively campaign on behalf of those with genetic conditions on issues of policy and practice to influence governments, policy makers, industry and care providers such as the National Health Service.
We provide a united voice for all those affected by genetic conditions, enabling us to work together towards a common goal of making life better for patients and families at risk.
Genetic Disorders UK
Genetic Disorders UK is a UK charity with a vision to improve the lives of individuals and families affected by a genetic disorder, along with the charities and patient groups that support them.
We aim to be the leading source of information and support for individuals and families affected by genetic disorders in the UK. Our small team also run the national annual fundraising day, Jeans for Genes Day, enabling us to provide much-needed grants to disorder-specific charities and support groups in the UK.
George Pantziarka TP53 Trust
Our charity supports people with Li Fraumeni Syndrome and related conditions.
This is a cancer pre-disposition syndrome commonly associated with a defective TP53 tumour suppressor gene. We are the only organisation in the UK dedicated to this rare genetic condition. We provide patient support and advice, publish information leaflets, fund research and host a website and forum.
PCD Family Support Group
The PCD Family Support Group is a volunteer run charity who:-
• Provide support to patients and their families who have or are suspected of having PCD
• Provide an up to date information service about PCD and raise awareness of the condition within the medical profession
• Promote research to aid diagnosis and treatment of PCD
• Support the NHS to ensure that patients have access to diagnosis and on-going care
• Fundraise to support the above activities
Phone: 0300 111 0122
About 70,000 adults and children in the UK have Polycystic Kidney Disease or PKD – life-threatening inherited conditions that can cause renal (kidney) failure and affect other organs in the body. The majority affected have the common form, Autosomal Dominant PKD or ADPKD, the world’s most commonly inherited kidney disease. Around 2,000 have the rare, sometimes lethal form, Autosomal Recessive PKD or ARPKD.We support those affected, their families and carers, with information, help and understanding. We raise awareness and fund research into the causes of PKD, with the hope of discovering treatments and a cure.
Our mission is to speed treatments and cures for Rett Syndrome and related MECP2 disorders by funding research that will have a practical and positive effect on our children’s lives.
We fund research from basic science to clinical trials, and work to facilitate the translation of this work to clinical applications for our children with Rett Syndrome and related MECP2 disorders
Our vision is a world where girls with Rett Syndrome are diagnosed much quicker and earlier than they are at the moment. A world where we know much more about the progression of the condition and the factors that affect that progression. A world where at every stage of development treatments are available to mitigate against the distressing symptoms which can occur and ultimately a world where treatments are available which cure the condition and allow the girls to live normal lives.