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.

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

Charcot-Marie-Tooth disease - an inherited neurological disorder

Mitochondrial DNA depletion syndrome: developing a new treatment

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

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

X–linked lymphoproliferative disease: working towards a new cure

Searching for treatments for three rare neurodevelopmental disorders

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

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

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

Simon, Lily's dad

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

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Rare diseases

Current Research

Previous Research

Ways to support our work

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