Rare childhood diseases | Action Medical Research

Rare childhood diseases

Thousands of families across the UK are coping with the challenge of caring for children with rare and devastating diseases for which there are no cures.

Tom, pictured, has Duchenne muscular dystrophy, a rare and fatal condition that causes muscle weakness and a relentless deterioration in physical abilities.

We are funding research to help develop treatments to tackle rare diseases that affect children like Tom.

Searching for treatments for three rare neurodevelopmental disorders

Research date: 1 March 2016 - 28 February 2019
Grant amount: £197,474.00

Thousands of families across the UK are coping with the challenge of caring for children with rare and devastating diseases for which there are no cures. Together, these diseases severely affect many forgotten children, but the rarity of each individual disease can hinder efforts to develop treatments. Dr Heinz Jungbluth, of King’s College London,...

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

Research date: 1 May 2015 - 30 April 2018
Grant amount: £193,328.00

Children with a rare, genetic condition called juvenile Batten disease may one day benefit from research by Dr Emyr Lloyd-Evans of Cardiff University. These children experience devastating symptoms that worsen over time. They lose their vision and develop epilepsy. Their mental and physical abilities regress, leaving them totally dependent on others. With...

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

Research date: 1 March 2015 - 28 February 2018
Grant amount: £190,617.00

Each year in the UK, around 30 children are diagnosed with a tumour called a craniopharyngioma.1 These tumours grow near the pituitary gland in the head, very close to the brain. Children normally undergo surgery, sometimes followed by radiotherapy. Both the tumour and its treatment can leave children with serious, long-term problems that badly affect...

Leukodystrophies: developing a new treatment for children with these devastating rare conditions

Research date: 1 December 2014 - 30 November 2017
Grant amount: £199,751.00

Children with rare, genetic conditions called leukodystrophies may one day benefit from research being conducted by Professor Robin Franklin and Dr Ilias Kazanis of the University of Cambridge. These children experience serious problems – with movement, speech and development, for example – that get worse over time because of deterioration of...

Anaemia – improving diagnosis and treatment for severe anaemia

Research date: 12 January 2015 - 11 January 2018
Grant amount: £172,229.00

Anaemia is a global public health problem that can have a major effect on children’s health.1 Usually, the cause of a child’s illness can be identified using simple diagnostic tests. However, sometimes the cause remains a mystery. This makes it difficult to identify the best treatment and predict how a child’s life will be affected. Dr...

Neuroblastoma: developing a new treatment for young children with cancer

Research date: 1 July 2014 - 30 June 2017
Grant amount: £179,874.00

Around 100 children are diagnosed with a cancer called neuroblastoma each year in the UK.1,2 Most are young – less than five years old.3,4 Although treatment often proves life-saving, it has side effects and doesn’t always work. Sadly, around a third of children lose their lives within five years of being diagnosed with neuroblastoma.4...

Creating new ears and noses for children who need them

Research date: 15 September 2014 - 31 December 2016
Grant amount: £228,075.00

Research Training Fellowship*: Dr Michelle Griffin Children born with unusually small, misshapen or missing ears or noses may one day benefit from research by Dr Michelle Griffin of University College London. Although it’s sometimes possible to reconstruct a child’s ear, or nose, using plastic surgery, existing approaches all have drawbacks...

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

Research date: 4 February 2015 - 7 August 2018
Grant amount: £197,895.00

Research Training Fellowship*: Dr Shivani Bailey Up to 45 children are diagnosed with germ cell cancer (GCC) every year in the UK.1 Some of these cancers occur in the ovaries or testes (germ cells develop into eggs and sperm); the rest occur elsewhere in the body, including the brain. Although survival rates are high, some children still die of their...

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

Research date: 1 March 2014 - 31 August 2016
Grant amount: £129,298.00

Duchenne muscular dystrophy is a devastating condition that’s diagnosed in around 100 boys every year in the UK – typically when they are just three to five years old.1,2 Boys with the condition experience a relentless deterioration of their physical abilities, eventually becoming heavily dependent on others for round-the-clock care. Sadly,...

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

Research date: 1 March 2014 - 30 September 2017
Grant amount: £200,000.00

Professor Fran Platt, of the University of Oxford, is leading research into three rare diseases that can cause severe disability. Children with these diseases experience a range of distressing symptoms that gradually get worse over time, including difficulties swallowing, physical disabilities, dementia, blindness and seizures. Sadly, most of the children...

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

Research date: 4 November 2013 - 9 January 2016
Grant amount: £106,108.00

An expert team led by Professor Bobby Gaspar at London’s Institute of Child Health is developing a new treatment for a rare illness called X-linked lymphoproliferative disease (XLP). Boys with XLP typically become ill during childhood or early adolescence. Sadly, without a bone marrow transplant, their disease is normally fatal. Professor Gaspar...

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

Research date: 1 October 2013 - 28 February 2017
Grant amount: £192,243.00

Estimates suggest up to one in 5,000 people has what’s called a mitochondrial disease.1 These diseases normally start to cause problems during childhood or teenage years. The way they affect children varies greatly, but those with the most severe illness can suffer devastating symptoms including seizures, learning disabilities, deafness and...

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

Research date: 1 May 2014 - 31 October 2017
Grant amount: £181,633.00

Sanfilippo type B is a rare illness that starts to cause problems when children are just two, three or four years old. At first, children may simply seem naughty or hyperactive. Sadly though, they go on to experience a gradual but relentless deterioration in their mental and physical abilities, with few living beyond their teenage years. There is no cure...

Argininosuccinic aciduria: developing a new treatment for this rare disorder

Research date: 14 October 2013 - 30 September 2017
Grant amount: £198,473.00

Research Training Fellowship*: Dr Julien Baruteau Dr Julien Baruteau, of Great Ormond Street Hospital, London, is dedicating his working life to helping children with diseases that affect their metabolism, diseases which can be disabling or life-threatening. There are over 300 diseases like this, which involve changes in chemical reactions within the...

Primary ciliary dyskinesia: helping communities at risk of this debilitating illness

Research date: 17 July 2013 - 16 July 2015
Grant amount: £118,734.00

Children in some communities are at unusually high risk of developing a debilitating, lifelong, inherited illness called primary ciliary dyskinesia (PCD), which causes recurrent ear and chest infections, often leading to permanent lung damage. Dr Hannah Mitchison, of University College London Institute of Child Health, is hunting for genetic changes that...

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

Research date: 15 July 2013 - 25 April 2016
Grant amount: £173,364.00

Children with ataxia have problems with balance and coordination, which can rob them of their ability to walk and make everyday activities difficult. It is often uncertain exactly what a child’s future holds – sadly for some children their disorder is progressive and life limiting, whereas other children find their condition remains constant...

Smith-Lemli-Opitz syndrome: working towards a new treatment

Research date: 15 November 2012 - 1 November 2016
Grant amount: £173,809.00

Estimates suggest at least one in 60,000 newborn babies in the UK has a rare genetic disorder called Smith-Lemli-Opitz syndrome (SLOS).1 All of these babies have autism spectrum disorders and the most severely affected have birth defects, such as cleft palates, learning disabilities and life-threatening heart defects. There is no cure and no proven...

Research Training Fellowship*: Dr Karin Tuschl

Research date: 3 September 2012 - 1 March 2017
Grant amount: £200,000.00

Manganese toxicity: tackling this disabling metabolic imbalance The metal manganese, though essential to health, causes brain damage if levels in the body rise too high. Those who are vulnerable include premature babies fed intravenously and children with a rare metabolic disorder. Manganese has also been implicated in the development of attention...

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

Research date: 6 June 2012 - 31 March 2015
Grant amount: £96,206.00

Children born with a rare illness called brittle cornea syndrome have fragile eyes, meaning common accidents such as being poked in the eye or hit by a ball can rupture their eyeball and leave them blind. Professor Graeme Black of the University of Manchester is researching the genetic causes of this rare illness in the hope of improving diagnosis. Early...

Other related information

Fighting a condition that causes multiple tumours

Posted: 27 March 2017 13:55 pm
Neurofibromatosis type two causes tumours to develop in the nervous system, typically in the brain and spine. Although not cancerous, these can cause devastating symptoms. Dr Sylwia Ammoun hopes to develop a much-needed new treatment for this rare genetic disease. Around 40 people, most of them teenagers or young adults, are diagnosed with...

Hope for families facing a rare brain disease

Posted: 12 September 2016 14:56 pm
Action has awarded a Research Training Fellowship of £230,000 to Dr Apostolos Papandreou, of University College London (pictured). He is dedicated to helping children suffering from a devastating neurodegenerative disorder which eventually causes symptoms of dementia and Parkinson’s disease. BPAN or, to use its full name, beta-propeller...

Hope for children with a devastating disease

Posted: 26 August 2015 09:02 am
Children with a rare, genetic condition called juvenile Batten disease may one day benefit from research by Dr Emyr Lloyd-Evans of Cardiff University. Those affected by this cruel condition seem healthy at birth and develop normally before things take a dramatic turn for the worse, usually between the ages of four and seven. As the disease...

Pair put their best foot forward for Paige after heartbreaking diagnosis

Posted: 2 June 2015 09:21 am
A grandmother from Norfolk has been inspired to put her best foot forward to raise funds for Action Medical Research after her two-year-old grand-daughter received a devastating diagnosis. Tracey McManus and her fiancé Paulo Perdiz, from Thetford, are tackling a number of challenges for the children’s charity after little Paige was...

Genetic discoveries helping children with Jeune syndrome

Posted: 27 April 2015 10:12 am
Jeune syndrome is a rare but devastating condition that affects the growth and development of babies’ bones in the womb. Babies with Jeune syndrome are born with short arms and legs and an unusually small ribcage, which can cause life-threatening breathing problems. This inherited condition can also result in eye, kidney and liver disease. Children...

Unlocking the mystery of Startle disease

Posted: 21 April 2015 14:37 pm
When Scarlett suffered seizures soon after she was born, her parents were shocked to discover the cause was a rare and sometimes fatal genetic disease. Now, diagnosis is possible for many more families. Scarlett was diagnosed with Startle disease when she was two weeks old. Babies with this rare condition become rigid and unable to move when startled....

How an accurate diagnosis helps children with Jeune syndrome

Posted: 21 April 2015 14:29 pm
The discovery in 2014 of new genes that cause Jeune syndrome represents a significant breakthrough in understanding this life-threatening hereditary disease. For families, it already means improved genetic testing, prenatal diagnosis and management of this devastating condition. Babies with Jeune syndrome are born with short arms and legs and an...

Rare Diseases Day: vital charity research investment

Posted: 27 February 2013 15:35 pm
Action Medical Research, the UK-wide charity funding vital research to help babies and children, is marking Rare Diseases Day (28 February) this year by announcing continuing investment into vital research in the area. Research underway in 2013 includes projects on rare conditions: primary ciliary dyskinesia (PCD), Smith-Lemli-Opitz syndrome and...

Understanding a rare disease

Posted: 5 October 2012 14:23 pm
Researchers funded by Action Medical Research have discovered a crucial marker in the body that will further understanding of a rare inherited disorder that can lead to death in childhood. Niemann-Pick disease type C (NPC) is part of a large family of over 50 diseases called lysosomal storage disorders that affect how bodily cells break down waste...

Database help doctors diagnose rare diseases

Posted: 4 October 2012 14:52 pm
Back in the 1980s, diagnosing genetic diseases was difficult as it relied on the ability of doctors to recall the well over 1,000 conditions which were described in many different specialist journals. It became even more problematic when cases that were undiagnosed were not reported in medical journals and doctors failed to recognise patterns associated...

Medical research charity marks Rare Diseases Day (Monday February 28)

Posted: 28 February 2011 09:43 am
Action Medical Research, the leading UK-wide medical research charity dedicated to helping babies and children, is marking Rare Diseases Day today (February 28) by celebrating pioneering research projects being carried out across the country.Families across the UK are coping with the reality of a child with a rare and devastating disease for which there is...
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