New medical research projects awarded in January 2008
Total funding: £779,268
Institute of Child Health, London - £143,425 over 24 months
Cleft lip and palate is one of the most common congenital defects affecting approximately 1 in 7000 babies. Researchers have recently found evidence for the involvement of a new biochemical pathway in this defect called SUMO protein modification.
This is exciting because SUMO modification can be altered by environmental factors which have been implicated in causing cleft lip or palate. Sparks researchers will investigate the genetic components of this pathway in patients with cleft lip or palate and learn why some people are born with this defect and aim to develop preventative strategies in the future.
Oxford University - £194,314 over 36 months
Sparks researchers are interested in three genetic diseases, where mental retardation is a prominent feature that affects babies and children. In two of these diseases (Niemann-Pick C1 and C2) the babies appear normal at birth but fail to develop properly due to the accumulation of fatty molecules in their cells. The third disease (Smith-Lemli-Opitz syndrome) involves a failure of the body to make cholesterol and these babies have severe disease that includes birth defects such as cleft palate.
A common cellular problem has been discovered and the team are evaluating therapies that will compensate for this defect.
Cardiff School of Medicine - £196,683 over 36 months
Chronic lung disease of prematurity, a common disease of premature babies, is characterised by prolonged oxygen dependency and abnormal lung growth. Our previous data shows that babies who develop CLD have persisting lung inflammation and have an inability to recruit cells to clear the inflammation.
Sparks researchers think this failure to recruit cells of resolution is due to molecules affecting the cell signalling pathway (called IL-6 trans-signalling). The Cardiff-based team shall investigate the role of IL-6 trans signalling in babies who develop CLD with a view to developing therapies similar to those for rheumatoid arthritis.
Children’s Hospital & Radcliffe Hospital, Oxford - £183,079 over 24 months
Cerebral palsy is a very disabling lifelong condition caused by damage to the developing brain. Affected children are unable to eat adequately; poor food intake causes malnutrition and leads to ill health and further compromise of neurological development.
The brain of infants has some capacity for repair and regeneration. Recent research has shown that certain dietary components are essential as building blocks for the making of nerves and their connections within the brain. This Sparks project aims to provide optimised nutritional input including these dietary building blocks to see if the growth and development of children with cerebral palsy can be improved.
Royal National Hospital for Rheumatic Diseases, Bath - £61,767 over 24 months
Juvenile idiopathic arthritis (JIA) is the most common rheumatic disease of childhood. Children with JIA may develop disabling joint disease and sight threatening eye disease, Uveitis. The Childhood Arthritis Prospective Study is a long term project based in five Children’s Hospitals across UK, recruiting children with arthritis in order to find risk factors for severe disease.
Sparks researchers will study plasma from these children for immune factors called auto-antibodies that may point to those at risk of severe joint and eye disease who need earlier intervention. The immune markers may yield clues into the cause of disease and more specific therapy.