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Rare Diseases in Childhood

Published on 11 December 2018

Rare diseases

Across the UK, thousands of families are dealing with the devastating fact that their child has a rare disease for which there is no cure. We fund groundbreaking medical research that offers hope to these families.

Lily is living with BPAN, a rare and devastating neurological condition for which there is no cure.

The disease strikes young children, causing them to develop slowly. It leads to seizures, muscle problems, symptoms of Parkinson's, dementia and eventually early death.

Current Research

Arrhythmogenic cardiomyopathy: personalising treatment for children with these rare inherited heart conditions to reduce the risk of sudden cardiac arrest

Vici syndrome: searching for drug treatments for this rare and severe inherited condition

Primary ciliary dyskinesia: searching for drugs to treat this debilitating, rare lung condition

Understanding the role of vitamin B6 in epilepsy to help improve treatment for children

Searching for a new drug treatment for children with a rare debilitating skin condition

Developing a new gene therapy for children with a rare severe liver disease

Improving the genetic diagnosis of rare childhood developmental disorders

Developing a new gene therapy for babies born with a rare severe lung condition

Epilepsy: developing a new drug treatment for a rare and debilitating form of the condition

Epilepsy: searching for a new treatment for a group of rare childhood epilepsy syndromes

Hypertrophic cardiomyopathy – improving diagnosis and monitoring of the disease in children

Anaemia: understanding the causes of a rare inherited anaemia to improve its diagnosis and treatment

Childhood leukaemia: investigating a new drug treatment

NMDAR-antibody encephalitis: using cutting-edge brain scanning techniques to personalise treatment for a rare brain disease

Childhood leukaemia: developing a new treatment to overcome drug resistance

X–linked lymphoproliferative disease: working towards a new cure

Sickle cell disease: could an asthma medicine improve children’s intellectual abilities?

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Previous Research

Startle disease: hunting down elusive genes

Jeune syndrome: why are some babies born with this rare and disabling condition?

Blindness: how better diagnosis of a rare illness might protect children’s sight

Sickle cell disease: which children are at highest risk of kidney failure?

X-linked lymphoproliferative disease: developing a cure for this rare disorder

Ataxias: hunting down the genetic causes of these devastating disorders of balance and coordination

Duchenne muscular dystrophy: developing a badly needed new treatment for boys with this devastating condition

Perthes’ disease: identifying who is at risk and why?

Mitochondrial diseases: developing new treatments for children with these rare and sometimes devastating diseases

Developing a new treatment for children with a rare disorder who are vulnerable to life-threatening infections

Neuroblastoma: developing a new treatment for young children with cancer

Argininosuccinic aciduria: developing a new treatment for this rare disorder

Lysosomal storage diseases: developing new treatments for these rare and devastating diseases

Sanfilippo type B: developing a new treatment for this rare and devastating disease

Pelizaeus-Merzbacher disease: developing a new way to study and eventually treat this disabling, rare disease of childhood

Craniopharyngiomas: developing new drug treatments for children with these devastating tumours

Tackling a rare condition that robs children of their ability to talk and understand speech: Landau Kleffner syndrome

Searching for better treatments for children with a rare metabolic disease

Neurofibromatosis type 2

Primary ciliary dyskinesia: tackling the underlying cause of this debilitating, rare condition

X-linked lymphoproliferative disease: a step closer to developing a cure

Developing safer tests for cystic fibrosis and spinal muscular atrophy during pregnancy

Pelizaeus-Merzbacher disease – finding new treatments

Systemic lupus erythematosus – helping children and teenagers understand why they are affected by this rare and disabling condition

Juvenile Batten disease - could a widely used medicine help children with this devastating, rare condition?

Craniosynostosis: improving diagnosis and care for children with this rare condition

Germ cell cancers – protecting children from the side effects of treatment and saving more lives

X-linked ichthyosis: searching for better treatments for boys with this rare skin condition

Neurofibromatosis type 1: spotting early signs of autism and ADHD in babies

Neurodegenerative disorders with brain iron accumulation – finding new treatments

Craniosynostosis: improving treatment for children

Perrault syndrome: working towards new treatments for children with this rare condition

Neuroblastoma: helping children who are at greatest risk from this potentially life-threatening cancer

Neuroblastoma: helping children’s immune systems to fight high-risk cancers

Charcot-Marie-Tooth disease - an inherited neurological disorder

Niemann-Pick disease type C: testing a potential new drug treatment

X-linked inhibitor of apoptosis deficiency: developing a gene therapy cure for this rare disorder

Spinal muscular atrophy: developing a potential new treatment

Microtia: improving surgery for children with small or missing ears

Mitochondrial DNA depletion syndrome: developing a new treatment

Searching for treatments for three rare neurodevelopmental disorders

Diamond-Blackfan anaemia: understanding the causes to improve diagnosis and treatment of children with the condition

Duchenne muscular dystrophy: searching for a new drug treatment

Vasculitis: developing a new gene therapy for a rare inherited type of blood vessel inflammation

Hunter syndrome: improving gene therapy for this rare and devastating disease

We're giving her the best time we can while she's here

Simon, Lily's dad

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Two babies born premature with breathing tubes

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