No other age group suffers more with rare disease than children but replacing rogue DNA is proving a valuable tool in the search for cures.
Rare diseases affact 3.5 million people in the UK
The tragedy of rare diseases is that of the country’s 3.5 million affected people, three in four are children and nearly one in three of those children will not live beyond the age of five.
Doctors and researchers face several challenges. By their nature, it hard to bring together a sizeable group of children together who have the same rare disease, and funding is always an issue.
It is for this reason that the Institute of Child Health (ICH) at University College London collaborates with Great Ormond Street, its director, Professor Rosalind Smyth explains.
“Rare diseases mean it is normally hard for researchers to build large enough studies because with just a couple of patients you don’t have enough people to answer the questions you’re looking into,” she says.
“That’s why researchers, such as ourselves, are working on building up larger groups of children than you would normally expect to reach by working with hospitals such as, in our case, Great Ormond Street.”
Breakthroughs on inherited conditions
It is through building sufficiently large research groups that breakthroughs on inherited conditions are beginning to be made, Smyth adds.
“We’re putting in a lot of research on inherited conditions by examining a child’s genes and establishing what is causing the disease,” she says.
“Once we know, one approach that we can take is to correct the gene by replacing it so the correct proteins are expressed and the condition is hopefully cured. A good example is the so-called ‘baby in the bubble’ where a child has no immune response and so any infection could be life threatening. In some of these conditions, we have been able to introduce the correct gene into the cells in the bone marrow, so the child’s immune system could start working. It was a big success and we’re keen to push this sort of gene correction therapy to other types of rare diseases.”
Research is helping parents plan for future famililes
The news from the research laboratories is encouraging and doctors’ understanding of rare conditions is improving, particularly in probing the genetic code of patients so rogue genes can be identified and replaced.
This is not just helpful in fighting rare diseases, it is very helpful for parents, who want to know if they plan to have more children, whether there is a possibility another child might suffer from the same condition. If there is this possibility, the risk can be calculated so parents can make an informed decision.
