A London scientist is hoping a new study funded by children's charity Action Medical Research, will help to improve diagnosis and work towards new treatments for a rare, incurable genetic disorder called Jeune syndrome.
Dr Miriam Schmidts has been awarded a prestigious Research Training Fellowship worth £176,583, to pay for her study into what causes the condition which an estimated 600 people in the UK suffer from.
Babies born with the disorder have short arms and legs, and an unusually small ribcage, which can cause life-threatening breathing problems. Researchers have already identified some genetic changes that can cause Jeune syndrome, but estimates suggest only a minority of sufferers carry these changes.
Dr Schmidts is determined to help people with the disorder by searching for more genetic changes that cause it. She hopes to improve diagnosis, boost access to genetic counselling and work towards new treatments.
She said: "Babies with Jeune syndrome often have severe problems breathing and may require mechanical ventilation, sometimes for many weeks or even months. Sadly, some babies' lungs are just too small and they lose their lives. Those who survive often require complicated surgery to enlarge their ribcage.
"Despite this, many children complain about ongoing difficulties with breathing and some suffer repeated respiratory infections, which can mean they have to be admitted to hospital frequently," she said.
Children with Jeune syndrome can have other problems too, with their liver, kidneys, or eyesight, for example. Some have polydactyly, which means they have more than five fingers or toes. Jeune syndrome is inherited, but in many cases, the baby's illness comes out of the blue, as parents are often unaware that they are carrying the gene.
Dr Schmidts is sequencing the DNA of around ten children with the disorder, along with the DNA of their parents and siblings as a comparison. The families are donating blood samples for use in the research. She is also investigating the underlying disease processes involved in Jeune syndrome, at the molecular level, using a laboratory model and focusing on the most recently discovered gene for the disorder.
She said: "I know how difficult long-term illness can be during childhood - for the entire family - and how frustrating it is for parents if their child suffers from an illness that is poorly understood. Jeune syndrome is poorly understood, which severely limits treatment options. By boosting understanding, this project could really help families with the disorder."
She is working under the expert guidance of three leading researchers at the Institute of Child Health in London, which aims to enhance understanding, diagnosis, therapy and prevention of childhood disease.
"This Action Medical Research fellowship is an exciting opportunity," says Dr Schmidts. "It gives me the chance to find more of the genes and to improve understanding of what's going wrong in the body, at the molecular level, which could open the door to the development of new treatments.
"It can help parents enormously just to know why their baby has been born with an inherited illness like Jeune syndrome, to know which gene is responsible for their baby's illness and why this leads to health problems," she added.
Dr Alexandra Dedman, Senior Research Evaluation Manager for Action Medical Research, said: "Through our Research Training Fellowships we support promising doctors and researchers early in their careers. This scheme is vital as it is recognised that there is a shortage of researchers in obstetrics, paediatrics and child health in the UK. This project is even more important as Jeune syndrome is a rare disease of which relatively little is known. This project could make a real difference to sufferers and their families.