Rare Diseases in Babies & Children | Action Medical Research

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.

Danny has Hunter syndrome, a rare disease with no cure and limited treatment options. Action Medical Research and LifeArc are jointly funding research at the University of Manchester to help improve gene therapy for Hunter syndrome. “Danny lives in the moment and enjoys whatever he has. His smile is totally infectious, and he wins hearts wherever he goes,” says his mum, Sally.

Current Research

Duchenne muscular dystrophy: exploring a way to boost the effectiveness of cutting-edge gene-based therapies

Cystinosis: improving medicines to help children follow their treatment plan

Personalising treatment for children with rare inherited conditions affecting their immune system

Neurofibromatosis type 1: repurposing existing drugs for treating young people with this rare condition

Testing a new treatment strategy that could help children with two rare neurodegenerative diseases

Krabbe disease: developing a potential new drug treatment for a rare and severe condition that affects children

Developing a new drug treatment for children with a rare inherited kidney condition that does not respond well to existing medications

Developing an innovative new approach to treat rare and incurable childhood brain tumours

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

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

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

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

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

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

Improving the genetic diagnosis of rare childhood developmental disorders

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

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

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

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

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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?

Explore our research on Perthes Disease, focusing on risk factors and causes, with the aim of improving diagnosis and treatment outcomes for children.