This year, because of your Jeans for Genes donations, The Jeans for Genes Grant Programme has awarded 41 charity partners with unrestricted funding to help them provide vital support to individuals and families living with a genetic condition in the UK.
We are delighted to confirm that despite these financial challenges, we have distributed £35,000 in grants to 41 charities prior to closure. Thanks again to everyone who has supported Jeans for Genes 2023 and made this possible.
Read about the wonderful charities making a difference, because of your Jeans for Genes fundraising in 2023:
21 Together
Each year, about 6,000 babies are born with Down`s syndrome, which is about 1 in every 700 babies born. 21 Together provide support for family members, carers, friends, and professionals supporting children and young people with Down’s syndrome across Kent.
Alex TLC
Leukodystrophies are a group of rare genetic conditions primarily affecting the white matter of the central nervous system. The majority are degenerative and life limiting. Leukodystrophies are often misdiagnosed and are poorly understood within the medical community, rendering adequate care and treatment widely inaccessible. Those affected often feel disempowered and isolated, struggling to cope with their situation and unable to access the help they need
Alex, The Leukodystrophy Charity (Alex TLC) provides invaluable support and information for everyone affected by leukodystrophy and works to improve best practice in prevention, diagnosis and treatment.
Amy and Friends
Amy and Friends supports children, young people and their families/carers who are diagnosed with life limiting genetic conditions Cockayne Syndrome, Tricothiodystrophy and related disorders. These DNA disorders present a wide range of symptoms and challenges that affect the daily lives of those with the condition and their families. Some of these include growth failure, developmental delays, hearing and vision loss, neurological issues, loss of ability to function as they once could and sensitivity to sunlight.
Amy and Friends provide practical and emotional support, information, and education whilst promoting and engaging with groundbreaking research in the UK and internationally.
Annabelle’s Challenge
https://www.annabelleschallenge.org/
Annabelle’s Challenge is the leading charity providing support to patients and families touched by Vascular Ehlers-Danlos Syndrome (vascular EDS) across the UK and globally. Vascular EDS is a genetic, life threatening connective tissue disorder that affects all tissues, arteries and internal organs making them extremely fragile, it is estimated to affect 740 people in the UK.
CGD Society
The CGD Society’s vision is to enable families and individuals affected by CGD to live life to the full and to be the leading source of information and support for families and individuals affected by CGD in the UK and around the world, by sharing the learnings and expertise from patients and medical professionals who treat them.
Cure DHDDS
DHDDS is an ultra-rare genetic condition caused by specific changes to a protein coding gene called DHDDS. Much is still unknown about the biochemical underpinning of this disease and more research needs to be done to fully understand it. Symptoms can include learning difficulties, tremors, seizures and ataxia.
Cure DHDDS raises awareness, supports families and drives research into ultra-rare DHDDS gene mutations.
Cystic Fibrosis Care
https://www.cysticfibrosiscare.org.uk/
Cystic Fibrosis (CF) is one of the most common life shortening chronic genetic conditions affecting around 10,800 children and young adults in the UK. It is an inherited condition that affects the lungs and digestive system, making it difficult to breathe and digest food. Complications increase with age requiring ever increasing levels of care, treatment and support.
Cystic Fibrosis Care provides essential services and equipment, practical help and support to children and adults, their families and Specialist Care Centres.
DBA UK
https://diamondblackfan.org.uk/
Diamond Blackfan Anaemia (DBA) is a rare genetic blood condition where the bone marrow fails to produce enough red blood cells. DBA UK offers support, research and hope to the DBA community by bringing families together to share their experiences, communicate the latest medical information and raise funds to support those with DBA in the UK.
DC Action
Dyskeratosis congenita (DC) and other Telomere Biology Disorders (TBDs) are inherited conditions causing premature ageing due to telomere repair abnormalities. Telomeres protect the ends of our chromosomes, similar to protective caps on the ends of shoelaces. Symptoms can include bnormalities of skin and nails, , bone marrow failure (anaemia, low white blood count and blood clotting problems) fibrosis (scarring) of lungs and liver cirrhosis.
DC Action aims to improve diagnosis, management and access to treatment for Dyskeratosis
Congenita (DC) and Telomere Biology Disorders (TBDs) through advocacy and by raising awareness amongst healthcare professionals, patients and the public and to provide support and advice for affected individuals and families.
Dravet Syndrome UK
Dravet Syndrome is a rare, life-limiting, life-long neurological condition, occurring in 1 in 15,000 births.
There are approximately 2,000-2,500 people living with Dravet Syndrome in the UK – more than. The main characteristic of Dravet Syndrome is recurrent and prolonged seizures that usually start in the first year of life of an otherwise healthy child. These seizures are extremely difficult to control and resistant to standard anti-seizure medications.
Dravet Syndrome UK guides families through the everyday challenges of living with Dravet Syndrome, with emotional, practical and financial support.
DS Achieve
Down Syndrome (DS) is a genetic condition, caused by a third copy of the 21st chromosome, that influences development throughout life. This genetic difference is present from conception, affecting people with DS during prenatal development, infancy, childhood and throughout their adult lives. It is one of the most common causes of intellectual disability. Improved medical care is helping many more people with DS to live longer and healthier lives. With more young people with DS living today than ever before, it has never been more important that we do everything possible to help them lead more independent and fulfilling lives.
DS Achieve works across Hertfordshire and the surrounding counties to empower professionals and families to provide children and young people with Down’s Syndrome the opportunity to achieve their potential, whatever that may be – and it will be different for every child or young person.
Duchenne Family Support Group
Duchenne Muscular Dystrophy (DMD) is a progressive, muscle wasting, genetic condition affecting mainly boys although a small number of girls also have DMD. It is caused by an error in the gene which creates an important muscle protein called dystrophin. Without dystrophin, muscle cells become weaker and eventually stop working. This means that many parts of the body are affected and the condition is life limiting. The Duchenne Family Support Group brings those affected together for mutual support, information sharing and social activities.
Fop Friends
Fibrodysplasia ossificans progressiva (FOP) is one of the world’s rarest genetic conditions, affecting just one in 2 million people. A child with FOP progressively experiences their muscles, ligaments, tendons and connective tissues turn to bone, and over time their healthy mind becomes locked inside a frozen body. Knocks, bumps and childhood immunisations can trigger bone growth and there is no known treatment or cure.
FOP Friends is the only UK charity to provide support for those living with FOP. They provide practical support and advice to families living with the condition, work to raise awareness of FOP to prevent misdiagnosis and facilitate earlier diagnosis and fundraise to support the research team at the University of Oxford.
Haemophilia Scotland
A bleeding disorder is a condition that results when blood cannot clot properly. Haemophilia is perhaps the best-known bleeding disorder. Von Willebrand’s disease is less well-known but is more prevalent, affecting 1 in every 100 people to some degree. It is inherited from either or both parents and affects men and women equally. Other bleeding disorders include rare clotting factor deficiencies and inherited platelet disorders. There are over 3,500 people in Scotland with a diagnosed bleeding disorder.
Haemophilia Scotland supports, informs and advocates on behalf of all people in Scotland with haemophilia, von Willebrands and other bleeding disorders. They bring together patients, and work with health service providers, suppliers and policy-makers so that people’s quality of life is as good as it can be.
Headlines Craniofacial Support
Craniosynostosis is a condition where two or more plates of the skull prematurely fuse together. This can cause severe disfigurement and difficulties with learning, vision and breathing. Hands and feet can also be affected and it can be fatal. The combination of rarity and disfigurement often leads those affected to feel extremely isolated. The charity also supports other genetic conditions that affect the skull and/or face such as Treacher Collins syndrome and craniofrontal nasal dysplasia.
Immunodeficiency UK
https://www.immunodeficiencyuk.org/
Immunodeficiency UK supports, empowers, educates and provides practical help to people and their families affected by immunodeficiency, a group of over 350 different genetically inherited conditions that affect how the immune system works.
Down’s Syndrome Syndrome Training and Support Ltd
There are approximately 11,625 children living with Down syndrome in the UK. Each one has some degree of learning disability and many have heart defects, hearing/vision difficulties, diabetes, and thyroid problems. Friendships and a social life can be hard to find for these children. Down syndrome Training and Support aims to improve the education, development and inclusion of people with Down’s Syndrome.
Kabuki UK
Children with Kabuki syndrome have a variety of medical conditions including; congenital heart defects, low muscle tone, feeding difficulties, cleft palate, speech and language difficulties, hearing problems, learning difficulties and kidney abnormalities.
Kabuki UK raise awareness of this rare syndrome, provide advice and help to newly-diagnosed families and organise events that enable families all over the UK to share stories and have fun!
Kleefstra Syndrome
https://www.kleefstrasyndrome.org/
Kleefstra Syndrome (Ks) is a rare genetic disorder characterised by learning difficulties, often accompanied by a spectrum of complex physical and clinical features. Children are most commonly delayed in their development, have delayed or no speech and low muscle tone. Some children have problems with hearing and vision, experience seizures, heart conditions, sleep and behavioural difficulties, aspiration reflux/GERD or other digestive issues.
Kleefstra Syndrome UK exists to offer support, education and awareness of this rare condition. Over 700 families currently benefit from their community support network.
Learn and Thrive
https://www.learnandthrive.org.uk/
Learn and Thrive delivers expert learning and support for children and young people with Down’s syndrome (DS) through digital tools and online learning. run two projects; Teach Me Too and Learning for Life. Each provides different areas of support for learners with Down’s syndrome and learning difficulties.
MACS
MACS supports children who are born with no eyes (anophthalmia), small eyes (microphthalmia) or part of their eye structure missing (coloboma). As well as experiencing incurable problems related to lack of sight, children affected by these genetic conditions can also have symptoms related to brain development, such as learning difficulties and behavioural problems.
MD Support Centre
The Muscular Dystrophy Support Centre was established in 2012 by a group of people with the genetic condition muscular dystrophy (MD) in the Midlands. Having experienced the benefits of physiotherapy in improving their quality of life, they wanted to share those benefits with others. Whilst MD is a rare life limiting condition, it affects 110,000 people UK-wide. The Muscular Dystrophy Support Centre is one of only two organisations in the UK providing therapy support.
Metobolic Support UK
https://metabolicsupportuk.org/
Inherited Metabolic Disorders (IMDs) are rare conditions caused by an enzyme or hormone deficiency affecting the metabolic pathway. They are lifelong conditions, but more than 30% of children living with a rare disease will die before their fifth birthday. Currently there are approximately 30,000 patients in the UK living with an IMD.
Metabolic Support UK are the leading organisation for Inherited Metabolic Disorders (IMDs), supporting thousands of people worldwide through providing individual support, building communities, and continually advocating for and empowering those living with IMDs.
NCBRS Worldwide Foundation
https://ncbrs-worldwide-foundation.weebly.com/
Nicolaides Baraitser Syndrome (NCBRS) is a rare genetic condition that affects a small percentage of individuals worldwide. It is a complex disorder that can have a broad range of symptoms, and its severity can vary from person to person. Developmental delay is a common symptom of NCBRS, and it can affect a child’s ability to achieve developmental milestones, such as crawling, walking, and talking. Intellectual disability is also a hallmark of NCBRS, and it can range from mild to severe. Many individuals with NCBRS also experience seizures, which can be difficult to control with medication.
The NCBRS Worldwide Foundation supports and educates families, caregivers, and professionals who work with individuals diagnosed with NCBRS. They aim to increase awareness and understanding of NCBRS by providing up-to-date information on the condition, promoting research, and advocating for treatment options that can enhance the quality of life for those affected by NCBRS.
Nerve Tumours UK
Nerve Tumours UK | Home | Nerve Tumours UK
Nerve Tumours is an umbrella term for three genetic conditions: Neurofibromatosis Type 1, Neurofibromatosis Type 2 and Schwannomatosis. All of the conditions cause nerve tumours. These tumours are usually non-cancerous (benign). They can be internal, or external, they can be big or small. Sometimes they cause no harm, other times they can provoke serious medical, physical and psychological conditions.
Nerve Tumours UK provides crucial medical and non-medical support, in the form of information, regional patient days, online communities, a network of healthcare professionals, and a national NF helpline.
Noonan Syndrome Association
https://www.noonansyndrome.org.uk/
Noonan syndrome occur in around 1 in 2500 births. It is one of the most common causes of inherited congenital heart disease and can also cause delayed physical development leading to short stature and late puberty, speech and hearing difficulties, delayed intellectual development, behavioural problems and epilepsy.
The Noonan Syndrome Association support families and individuals affected by NS with information, webinars with expert medical speakers, family day events, and involvement in research projects.
Plasma of Hope
Plasma of Hope is a UK registered charity, supporting individuals that are living with Sickle Cell Disease, or other related illnesses across Walsall, Dudley, Wolverhampton and Sandwell in the West Midland of England.. They also campaign to help raise awareness of sickle cell disease in the wider community, to help educate, and where possible influence others to understand and adapt where they can, creating a better world for everyone.
PTEN UK and Ireland
PTEN Hamartoma Tumour Syndrome (PHTS, often shortened to PTEN) is a rare genetic condition Sometimes referred to by its older classifications of Cowden Syndrome (CS) or Bannayan Riley Ruvulcaba Syndrome (BRRS). It is thought to affect 1:200,000 people or around 300-400 people in the UK. It is caused by an alteration of the genetic code in a gene called PTEN.
There is a wide range of symptoms associated with the condition which can vary considerably in severity. PTEN UK and Ireland patient group’s purpose is to improve the lives of patients, parents and carers of all ages, in the United Kingdom and Ireland, through better patient support, increased awareness, more accurate and accessible information, earlier diagnosis and intervention, greater research into treatment and prevention, and improved coordination of care.
Prader-Willi Syndrome Association UK
Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. Most commonly, children have weak muscle tone, delayed physical and emotional development and a constant and overwhelming feeling of hunger, which if not controlled will lead to chronic overeating and life-threatening obesity.
The Prader-Willi Syndrome Association UK works to ensure that the PWS community has access to high quality care, opportunity and support, and to promote awareness, build knowledge and further research in order to overcome the challenges of PWS.
OSCAR Sandwell
OSCAR Sandwell works to promote the well being and support people affected by the genetic blood conditions Sickle Cell Disease and Thalassaemia within the Sandwell area.
Shwachman Diamond Syndrome UK
Shwachman Diamond Syndrome (SDS) is a rare genetic condition with approximately 100 known cases in the UK although this is likely an underestimate of those impacted by the condition. SDS is characterised by short stature, exocrine pancreatic insufficiency, and a weakened immune system. A proportion of patients develop blood cancer.
SDS UK support individuals and families living with the condition by promoting access to health and educational services and resources, supporting the development of an adult clinic and transition from child to adults care, providing forums for families, patients and medical professionals to connect and supporting research into the condition.
Stargardt’s Connected
https://stargardtsconnected.org.uk
Stargardt’s Disease. It is an inherited progressive retinal condition causing central vision loss. There is no current treatment or cure for the disease.
Stargardt Connected provides tailored information, practical and emotional support and events for those affected by Stargardt’s Disease. We are often the first port of call for those who are newly diagnosed and play a pivotal part in helping to reduce isolation and provide the much-needed reassurance and emotional support.
Timothy Syndrome Alliance
Timothy Syndrome (TS) is a rare, genetic condition caused by specific changes to a gene called CACNA1C. CACNA1C-related disorders include a spectrum of conditions characterised by a range of cardiovascular and/or neurologic symptoms
The Timothy Syndrome Alliance improves the diagnosis, treatment and care of individuals with CACNA1C-related disorders, including Timothy Syndrome and LongQT8, and to support the families and carers of those diagnosed.
The ED Society
Ectodermal Dysplasia is not a single condition, but a group of closely related genetic conditions known as the Ectodermal Dysplasias that affect the development or function of the teeth, hair, nails and sweat glands. More than 180 different types of Ectodermal Dysplasia have been identified. Depending on the particular type, an Ectodermal Dysplasia can also affect the skin, the eyes or ears, the lining of the airways, the development of fingers and toes, the nerves and other parts of the body.
The Ectodermal Dysplasia Society is a charity dedicated to improving the health and well-being of people whose lives are affected by Ectodermal Dysplasia (ED). The charity works together with people who have ED, their families, researchers, health and other professionals to develop and share expertise, increase awareness and understanding, and assist with the day-to-day management of ED.
The Muscle Help Foundation
Muscular Dystrophy (MD) refers to a group of genetic conditions that weaken muscles in the human body. MD is characterised by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. Most conditions are progressive but the prognosis differs according to the type and progression of the disorder. Some cases may be mild and progress slowly over a normal lifespan. Others produce severe muscle weakness, functional disability, and loss of the ability to move parts of the body.
The Muscle Help Foundation works to help fulfil the cherished dreams and aspirations of children and young people (8-28yrs) living with Muscular Dystrophy (MD).
The Sandcastle Trust
The Sandcastle Trust is a small charity that walks alongside families living with a rare genetic condition to help build lasting positive family memories, strengthen family relationships and improve emotional wellbeing and resilience. They do this through their five Sandcastle Support Programmes: Sandcastle Memories, Sandcastle Smiles, Sandcastle Counselling, Sandcastle Connections and our Sandcastle Support Hub.
Through this unique service offering, consisting of bespoke family respite, wrap around fun family engagement activities, counselling and peer support, they are able to support families living with a rare genetic condition based on their individual needs from across the UK.
Unique
Unique is a small charity providing specialist information and support to anyone affected by a rare chromosome or gene disorder (RCD), their families and carers, medical and other involved professionals. These are complex genetic conditions, present at birth (though not usually inherited), causing often severe learning and physical disabilities and health problems. Life-limiting and occasionally life-threatening, caring for someone with a RCD has a lifelong emotional and physical impact.
The Myotubular Trust
Myotubular & Centronuclear Myopathy are a group of very rare genetic conditions that cause profound muscle weakness and decreased muscle tone from birth. Primarily affecting skeletal muscle, the condition causes severe challenges with sitting, standing, and walking. Additionally, there are breathing and swallowing difficulties making the condition extremely life threatening.
No cure or treatment is available, although there are currently 3 clinical trials in progress, and children with Myotubular myopathy need vigilant nursing care, ventilators to breathe, power wheelchairs to get around and are usually fed via gastrostomy. Otherwise, they are happy, cognitively unaffected and academically bright babies and children.
The Myotubular Trust provides families affected with Myotubular myopathy with vital support and funds research into a treatment or cure.
Fanconi Hope
Fanconi Anaemia (FA) is a rare, life-limiting genetic condition causing bone marrow failure in children and a predisposition to gynaecological, head and neck cancers, together with other complications both in childhood and in later life. Fanconi Hope promotes awareness and understanding of Fanconi Anaemia among affected families, the medical profession, and the general public, funds research into the condition, helps engender consistent best practice treatment across the UK and provides much-needed support to affected families.
The Norrie Disease Foundation
The Norrie Disease Foundation – The Norrie Disease Foundation
Norrie Disease is a rare X-linked genetic condition causing blindness or severe visual impairment from birth in boys (and even more rarely girls).
Most affected individuals also suffer from progressive hearing loss often starting in early childhood. Other symptoms can include cognitive impairment, developmental delay, autism and compromised mobility. Around 40 affected families are known in the UK and 500 globally although it is likely there are many more people with Norrie Disease who have not been diagnosed.
The Norrie Disease Foundation provides information and support to affected families and leads the way globally in promoting and funding pioneering research into finding a therapy to treat the devastating hearing loss experienced by those with Norrie Disease.
Usher Kids UK
Usher Syndrome is a rare genetic condition which affects hearing, vision and balance. Children with Usher syndrome are born with a level of hearing loss and subsequently diagnosed with a progressive vision loss condition called Retinitis Pigmentosa. The condition progresses through adolescence and adulthood, and can result in severe or total vision loss. There is no cure, and very little specialist support which addresses the impact of multiple and progressive sensory loss.
Usher Kids UK provides information, support, connections and advocacy from diagnosis onwards. Usher Kids act as a conduit between their community of families and the professionals supporting them, as well as researchers seeking input from them to inform their research design and delivery.