Thousands of families across the UK are coping with the reality of a child with a rare and devastating disease for which there is no cure. Help us bring hope to those forgotten families by supporting research to test new treatments for rare metabolic diseases such as Sandhoff disease, find ways to repair faulty genes that cause distressing and disabling conditions like Rett syndrome, and tackle rare forms of blindness and brain diseases, as well as test stem cell therapy to treat brittle bones in children.
Metabolic diseases: hope of new treatments
Researchers are searching for possible new drugs to treat three rare but devastating inherited diseases that are typically diagnosed during childhood – Smith-Lemli-Opitz Syndrome (SLOS), Mucolipidosis type IV (MLIV) and Niemann-Pick disease type C (NPC).
Beckwith-Wiedemann syndrome: can genetics help predict how a child’s illness will progress?
Beckwith-Wiedemann syndrome affects the growth and development of babies. Affected babies are much larger than average and are often born prematurely. They can suffer a range of birth defects and are at risk of childhood cancers. Some cases may have links with fertility treatment. Researchers are investigating the genetic causes of Beckwith-Wiedemann syndrome.
Rett syndrome: hopes of gene therapy
Rett syndrome is a devastating, developmental disorder that causes profound physical and learning disabilities, typically striking unexpectedly in girls of less than 18 months old. Sadly, there is no cure, and most sufferers need total, 24-hour care for life.
Brittle bone disease: potential of stem cell therapy
Children with brittle bone disease have such fragile bones they can suffer fracture after fracture, often with little or no apparent cause. The disease can cause other problems too, such as hearing loss and retarded growth. Sadly, the most severely affected babies die soon after birth.
Research Training Fellowship: Dr L Islam
Each year, Action Medical Research awards these prestigious grants to help the brightest and best doctors and scientists develop their career in medical research. Dr Islam’s grant of £138,300 will fund her two-year study into the genetic causes of blindness in babies and children, with the longer-term aim of developing better treatments.
Microcephaly: finding the genes
Babies with a condition called autosomal dominant microcephaly, which runs in families, are born with small heads. Most go on to have mild learning disabilities throughout their lives, limiting their independence. There is no diagnostic test and no cure.
Research Training Fellowship: Dr Manju Kurian
Each year, Action Medical Research awards these prestigious grants to help the brightest and best doctors and scientists develop their career in medical research. Dr Kurian’s grant of £135,648 will fund her two-year study into two devastating genetic disorders that cause death and disability in children.
Researchers hope to improve the lives of children with a disabling muscle disease
JDM is a disabling muscle disease that can strike children of any age, though it most often starts between 4 and 10 years old. Treatment can be effective, but is complex, often involving many different drugs. Sadly, for the most severely affected children, the illness can prove fatal.
Important new blood tests for devastating metabolic diseases
Glycosphingolipid lysosomal storage diseases are severe metabolic diseases, which typically affect very young children. These children endure a range of distressing symptoms, including blindness, deafness, and a relentless deterioration in physical and mental abilities, which often results in death. Researchers are investigating ways to monitor the benefits of potential new therapies
Blindness in Children
Leber congenital amaurosis (LCA) is an inherited disease causing total blindness or greatly impaired vision from birth. The causes of LCA are not well understood and there are currently no treatments for this condition. Babies born with LCA have little or no sight and the sight that they have will deteriorate further over time.
Research Training Fellowship: Dr Sally Johnson.
Each year, Action Medical Research awards these prestigious grants to help the brightest and best doctors and scientists develop their career in medical research. Dr Johnson's grant of £131,633 will fund her two-year study into a devastating form of kidney failure in children.
