This year the Jeans for Genes Grant Programme has provided grants to genetic conditions charities that help support their operations and to provide funding for some amazing projects that really do change lives.
Read about the wonderful charities making a difference, because of your Jeans for Genes fundraising in 2025 :
Alport UK
Alport UK is a patient-led organisation focused on empowering individuals and families affected by Alport Syndrome to achieve the best possible quality of life. At the heart of its mission is fostering support and meaningful connections within the community. Alport Syndrome is a rare inherited condition that can lead to kidney failure, hearing loss, and eye abnormalities. Many people with the condition experience hearing loss during childhood and may require a kidney transplant in early adulthood. It is the second most common inherited kidney disorder, affecting approximately 1 in 2,300 people.
Alex TLC
Alex The Leukodystrophy Charity (Alex TLC) is dedicated to supporting everyone affected by leukodystrophy – a group of rare, genetic, life-limiting neurological conditions that impact the white matter of the brain and spinal cord. With over 100 known types, leukodystrophies can affect individuals at any stage of life, from infancy to adulthood. Although each type differs in its genetic cause, symptoms, and progression, families often face shared challenges, including delayed diagnosis, limited treatment options, complex care needs, emotional strain, and social isolation. Over the past year, the charity supported 2,229 individuals and families by providing emotional and practical assistance, professional counselling, peer support networks, advocacy, and reliable information – helping them feel less alone and better equipped to navigate the challenges ahead.
Amy and Friends
Amy and Friends support children and young people, along with their families, affected by Cockayne Syndrome (CS) and Trichothiodystrophy (TTD) across the UK. These are rare genetic DNA repair disorders associated with a significantly reduced life expectancy – averaging around 12.4 years – and currently have no cure. The charity’s mission is to ensure that every family, no matter where they live, has access to the care, understanding, and support they need. Through a combination of emotional, practical, and medical assistance, as well as a compassionate and connected community, Amy and Friends help families navigate these devastating diagnoses and feel less isolated. The charity currently supports over 1,000 families nationwide.
British Porphyria Association
British Porphyria Association is a UK-based charity dedicated to advocating for, supporting, and educating people affected by porphyria, as well as their families and healthcare professionals. Its mission is to improve the quality of life for those living with these rare conditions by raising awareness and promoting the development of new treatments. Porphyrias are a group of rare, largely genetic disorders that can be life-limiting and, in some cases, life-threatening, often causing severe pain and significant distress. Beyond the physical symptoms, many patients face profound challenges in their family and social lives, financial stability, and emotional wellbeing. By equipping individuals and families with reliable information, practical resources, and ongoing support, the charity helps those affected better understand and manage their condition, ultimately improving their day-to-day lives.
Caring Matters Now
Caring Matters Now supports children, adults, and families affected by Congenital Melanocytic Naevus (CMN), a rare and potentially life-threatening genetic condition. Caused by a spontaneous mutation in the NRAS gene during early embryonic development, CMN affects how pigment-producing skin cells grow, resulting in large, dark birthmarks that can cover significant portions of the body—sometimes up to 80%—making it a form of genetic mosaicism. Founded by individuals directly impacted by the condition, the charity is deeply rooted in lived experience. Today, Caring Matters Now supports more than 900 families across the UK, offering practical guidance, emotional support, and access to specialist expertise to help them manage the physical, psychological, and social challenges associated with CMN.
Chattertots
Chattertots supports families across Berkshire who have children with Down syndrome, a genetic condition caused by the presence of an extra chromosome 21. This small, parent-led charity works with around 35 families in areas including Windsor, Reading, Wokingham, Bracknell, and Slough. Its mission is to help children with Down syndrome reach their full potential through access to specialist early intervention. By addressing gaps in NHS provision – particularly long waiting times for speech and language therapy -Chattertots provides vital support during the early years, when it can make the greatest difference. With a focus on improving communication, learning, and developmental outcomes, the charity plays a crucial role in giving children the best possible start.
Cure DHDDS
Cure DHDDS is dedicated to improving the lives of children and families affected by DHDDS deficiency, an ultra-rare genetic neurodegenerative condition caused by variants in the DHDDS gene. Among the rarest disorders, only a small number of families have been diagnosed worldwide. The condition typically begins in early childhood and is progressive, with children experiencing developmental delays, loss of acquired skills, seizures, movement disorders, visual impairment, and increasing physical disability. There are currently no approved treatments, no validated biomarkers to track progression, and no established clinical care pathway. Founded by parents of children with the condition, Cure DHDDS focuses on three key aims: accelerating research towards treatments, building clinical readiness, and providing connection, support, and hope to families navigating this challenging diagnosis.
Downright Excellent
Downright Excellent (DEx) was established in 2005 and registered as a charity in 2007. The organisation is committed to the belief that all children with Down syndrome have unique talents and abilities that should be nurtured to support their independence, employability, and overall quality of life. Its mission is to enable children with Down syndrome to reach their full potential by recognising their distinct learning profiles and specific support needs. Downright Excellent achieves this by providing tailored information, resources, and support to children and their families, while also helping each child develop their skills, confidence, and social networks. The charity currently supports around 90 children and their families across London, delivering activities both at the Sundial Centre in Bethnal Green and online.
Dravet Syndrome UK
Dravet Syndrome UK was founded in 2009 by parents seeking support and information about Dravet Syndrome, a rare genetic condition often linked to SCN1A variants. It causes severe epilepsy, developmental challenges, and lifelong dependence on 24/7 care. Seizures can occur frequently and unpredictably – sometimes hundreds per day – placing individuals at risk of brain injury and sudden unexpected death in epilepsy (SUDEP), with around 1 in 5 children not reaching adulthood. The charity works to improve lives through support, education, and research, and is the UK’s only organisation dedicated to this condition, supporting over 580 individuals and many more families.
Haemophilia Scotland
Haemophilia Scotland is a membership organisation dedicated to improving the life experiences of people in Scotland who are living with a bleeding disorder. Haemophilia is perhaps the best-known bleeding disorder, whilst Von Willebrand Disorder is less well-known but more prevalent, affecting 1 in every 100 people. The charity provides vital services including information, advocacy, events, and support to their 425 members. Their services combine a detailed knowledge of different conditions and their specific treatments, with the personal experience of living with bleeding disorders.
The Leanne Fund
The Leanne Fund provides vital support to children and young people who face the daily challenges of living with Cystic Fibrosis. The organisation currently supports 450 individuals affected by the condition and their families across 12 of the 14 NHS regions of Scotland, with 280 of these aged 18 or below. Their wide range of services offers individuals and families the means to improve their overall wellbeing without financial pressure.
MACS
MACS Support is the UK’s only charity dedicated to supporting individuals born with Microphthalmia, Anophthalmia and Coloboma, as well as their families. Each year in the UK, around 114 babies are born with no eyes or underdeveloped eyes due to these rare congenital conditions, which occur during early foetal development and affect the structure of the eye. MACS aims to build a strong, connected community that empowers those affected to reach their full potential. The charity provides emotional and practical support, accessible information, financial assistance for specialist needs, and opportunities that help children and families develop confidence, independence, and resilience.
Muscle Help Foundation
The Muscle Help Foundation is a UK charity that delivers transformative “Muscle Dream” experiences to children, young people, and adults aged 8–35 living with Muscular Dystrophy and related conditions. Muscular Dystrophy is a progressive genetic disorder caused by mutations that weaken and gradually destroy muscle fibres, affecting around 110,000 people in the UK. Many beneficiaries live with Duchenne Muscular Dystrophy, the most severe form, which leads to loss of mobility, increasing medical complexity, and reduced life expectancy. Founded in 2003 by Michael McGrath MBE DL, who also lives with the condition, the charity focuses on addressing the emotional impact of diagnosis by creating personalised, aspirational experiences that build confidence, strengthen identity beyond disability, and foster a sense of belonging.
Niemann-Pick UK
Niemann-Pick UK is a small national charity founded in 1991 by parents with lived experience of Niemann-Pick disease. Niemann-Pick diseases are a group of rare, inherited, progressive, and life-limiting metabolic disorders for which there is currently no specific treatment or cure. The charity supports individuals diagnosed with the condition, along with their families, carers, and the healthcare professionals involved in their care. It helps fill gaps in provision and reduces pressure on local health services by offering dedicated support and guidance. Its community includes 642 individuals, including 172 diagnosed patients, as well as their families, friends, and medical professionals.
Pathfinders Neuromuscular Alliance
Pathfinders Neuromuscular Alliance is a UK-wide, user-led charity supporting teenagers and adults living with genetic neuromuscular conditions. These conditions are caused by changes or absence of genes responsible for muscle function and are typically progressive, often life-limiting, and associated with significant physical disability, respiratory complications, and complex health and social care needs.
Advances in medical care, including ventilation, cardiac treatment, and genetic therapies, mean more people are now living into adulthood. However, adult health, housing, employment, and social care systems have not developed at the same pace.
Pathfinders exists to empower people to access the services and support they need to live with choice and control, while also building peer networks to reduce isolation. The organisation raises awareness and campaigns for better access and inclusion, ensuring that lived experience drives its services, research, and advocacy.
Plasma of Hope
Plasma of Hope is a UK-based community charity dedicated to improving the lives of individuals and families affected by genetic blood disorders, with a particular focus on Sickle Cell Disease and Thalassaemia. The organisation works to reduce health inequalities, improve understanding of these conditions, and ensure that people receive the practical, emotional, and systemic support needed to live well.
Sickle Cell Disease and Thalassaemia are inherited conditions that can cause chronic pain, fatigue, frequent hospital admissions, and serious complications affecting physical, emotional, and social wellbeing. Individuals often face stigma, delayed or unequal care, and barriers to accessing support across education, health, social care, and welfare systems.
Plasma of Hope supports children, young people, adults, and families throughout their lives, combining frontline support with education and advocacy to improve understanding and outcomes across society.
PTEN UKI
PTEN UKI’S purpose is to improve the lives of patients, parents and carers of all ages, in the United Kingdom and Ireland, who are affected by PTEN genetic alterations, PTEN Hamartoma Tumour Syndrome (PHTS), Cowden Syndrome (CS), or Bannayan-Riley-Ruvalcaba Syndrome (BRRS). This is done 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. PTEN UKI supports the PTEN community, their families and caregivers by providing them with a platform to come together (either face-to-face or online) to share their experiences of living with this rare disease.
Ring20 Research and Support UK
Ring20 Research and Support UK is the only UK charity dedicated to supporting individuals and families affected by Ring Chromosome 20 Syndrome (r(20)), an ultra-rare chromosomal disorder in which chromosome 20 forms a ring structure, disrupting normal brain function and causing severe, drug-resistant epilepsy. Established in 2014, the charity currently supports 43 UK families and connects with many more internationally. It provides specialist information, emotional support, advocacy, and community connection, while also helping families engage with emerging research. As a patient-led organisation, Ring20 actively collaborates in research initiatives, including the UNRAVEL study with the NIHR BioResource, Illumina Inc, and the Patient Led Research Hub. It is also involved in ongoing genetic research with Birmingham Hospital and Oxford Nanopore Technologies to improve understanding of the condition, enhance diagnosis, and support the development of better treatments.
SLCA61 Connect UK
SLC6A1 Connect UK focuses on improving the lives of individuals diagnosed with mutations in the SLC6A1 gene, which can cause Developmental and Epileptic Encephalopathy or a neurodevelopmental disorder in which epilepsy may not always be present. The organisation supports and advances research to deepen understanding of the disease’s mechanisms, molecular basis, and clinical presentation, with the long-term goal of enabling effective therapies. It promotes collaboration across countries and sectors, working with partner organisations to strengthen research networks and secure larger grant funding while reducing fragmentation in the field. SLC6A1 Connect UK also aims to advance translational science and support affected families through education, connection, and active participation in research and advocacy efforts.
Unique
Unique offers accurate and accessible medical information for those who are navigating the world of rare chromosome and gene disorders. Unique is an open, supportive community for people who are looking to learn, share lived experiences and connect with others. The organisation produces information guides, has a telephone and email helpline, a family matching service, comprehensive signposting and family fun days to support and enable UK members to establish informal support networks.
Usher Kids UK
Usher Kids UK exists to ensure that children and young people with Usher syndrome, along with their families, have the information, support, and connection they need to thrive. As the only UK charity dedicated specifically to this condition, it empowers families through trusted information, practical support, and opportunities to connect with others who share similar experiences.
Usher syndrome is a rare genetic condition that causes hearing loss, progressive vision loss, and, in some cases, vestibular dysfunction. It is the most common genetic cause of deafblindness, affecting an estimated 4–17 per 100,000 people, with around 2,000 children and young people in the UK thought to be living with the condition. Because affected families are often geographically dispersed and may lack access to specialist local services, Usher Kids UK provides a vital source of reassurance, clarity, and community throughout their journey.
Timothy Syndrome Alliance
Timothy Syndrome Alliance is a patient-led organisation dedicated to supporting individuals and families affected by Timothy syndrome. The alliance exists to provide trusted information, emotional support, and global community connection for those living with this extremely rare condition, as well as to raise awareness among clinicians, researchers, and the wider public.
Timothy syndrome is a rare genetic disorder caused by mutations in the CACNA1C gene, which affects calcium channel function in the body. It is typically associated with serious cardiac rhythm abnormalities, developmental delay, and features of neurodevelopmental difference, alongside other complex medical needs. Because the condition is so rare and medically complex, families often face significant challenges in receiving timely diagnosis, coordinated care, and ongoing specialist support.
The Timothy Syndrome Alliance works to address these gaps by connecting families worldwide, sharing reliable information, and supporting research efforts aimed at improving understanding, treatment, and long-term outcomes.
Wolfram Syndrome UK
Wolfram Syndrome UK is a small national charity supporting children, young people, adults, and their families affected by Wolfram syndrome, an ultra-rare, progressive, and life-shortening genetic condition.
Wolfram syndrome typically begins in early childhood, often with diabetes mellitus, and progresses to a complex range of symptoms including optic atrophy leading to vision loss, bladder problems (diabetes insipidus), and hearing loss. It can also involve neurological and mental health challenges such as anxiety and depression. As the condition advances, many young people find it increasingly difficult to maintain independence, social relationships, and participation in everyday life, often requiring significant support in early adulthood.
Wolfram Syndrome UK exists to provide support, education, and practical advice to affected individuals and families, raise awareness among healthcare professionals and the public, and fund research aimed at developing treatments that can slow, halt, and ultimately cure the condition.