Daniel
Research into a devastating genetic bowel condition can go ahead thanks to funding from Jeans for Genes.
Congenital Microvillous Atrophy (MVA) is an extremely rare genetic condition of the bowel which makes it impossible for children to absorb nutrients from food.
Making It Better - The Daniel Courtney Trust was set up by Jo and Mark Courtney in 2005 to support families living with the condition and begin the hunt for a cure.
Their son Daniel lost his fight against MVA at just 16 months old.
Jeans for Genes is funding the Trust's research to identify
mutations in the gene which causes the condition. A grant of £20,000
is being allocated from the funding the UCL Institute of Child Health (UCL ICH) in London receives every year
from Jeans for Genes, through its partnership with Great Ormond Street
Hospital.
Daniel's fight for life
Daniel's form of MVA meant he was completely reliant on intravenous feeding called TPN (total parenteral nutrition). Just a few minutes off his feed could have been fatal and Jo and Mark were never able to take him home from hospital.
But the TPN also caused irreparable liver damage. Despite receiving a liver transplant when he was 11 months old and a combined liver and small bowel transplant just six months later, he lost his battle for life.
Funding for the future from Jeans for Genes and the ICH
When Daniel was born in 2003 there was very little knowledge of MVA. But the gene responsible, the MYO5B gene, has since been isolated. The Trust's research project will aim to identify mutations in this gene.
It will be carried out by Consultant Paediatric Gastroenterologist and patron of the Trust, Dr Neil Shah, with two colleagues from the Molecular Medicine Unit at the UCL ICH.
Jo Courtney says; "We would like to extend our very grateful thanks to Professor Andrew Copp, Director of ICH and to everyone at Jeans For Genes.
"It's wonderful to be given the opportunity to carry out this important research, which we hope will be the first step towards a national diagnostic referral centre for primary disorders of the bowel."