Touching Lives - March 2005

It can be treated by surgery, but the outcome for some children is poor, and they go on to suffer lifetime incontinence.

Now a team of researchers at the University of Liverpool and Alder Hey Children’s Hospital is embarking on a radical study in the hope that stem cells isolated in the laboratory and transplanted into the bowel may hold the key to a cure.

Funded with a grant of £122,840 from Action Medical Research, the two year project is being led by consultant paediatric surgeon Mr Simon Kenny and developmental biologist Dr David Edgar.

It is a result of recessive mutations in certain genes, which have to be present in both the father and mother and come together by chance, leaving the child without an essential component for their vision.There are currently no treatments for LCA.

Some people have a genetic fault similar to a time bomb ticking away inside their bodies. They know they carry the fault, but they don’t know when, or even if, illness might strike.

Huntington’s disease is such a phenomenon. It is a degenerative brain disorder, but the faulty gene that causes it often has no obvious effect until middle age. Huntington’s slowly diminishes a person’s ability to walk, think, talk and reason and eventually, sufferers become dependent on others for their day-to-day care. There is no cure at present.

In particular he is looking at severe inflammation of the bowel walls, known as necrotising enterocolitis, which is almost like gangrene in its symptoms and effects. It is a serious condition — 1 in 5 of those babies will die. This condition particularly affects babies who haven’t grown normally in the womb, usually because something has gone wrong with the blood supply to the baby during pregnancy.

In Type 1 diabetes the body lacks insulin, and sufferers require daily insulin injections.The disease is very common (affecting approximately one in 300 of the population), usually starts in childhood and often leads to blindness and kidney failure.

Reasons for the occurrence of disease are not fully understood, but it is thought the body’s own defence system plays a role by attacking the insulin-producing cells.

By interfering with the normal functions of the liver, fibrosis can cause liver failure and even death. Most of us know that excessive alcohol intake can lead to liver fibrosis, but there are other causes which have nothing to do with alcohol such as viral infection and some inherited conditions.

A grant from Action Medical Research has bought equipment to help monitor pregnant women involved in the study.

The £6,000 grant has bought pulse oximeters, small devices that clip to the finger and attach to the wrist. They record oxygen levels as the woman sleeps and this information, along with birthweight details, should help identify any link between sleep apnoea — a condition that causes oxygen levels to fall — and small babies.

Most of a cell’s genetic material — the DNA — is located in the cell nucleus, but relatively recently it was discovered that these mitochondria also contain a small amount of DNA (mtDNA).

Studies into osteoarthritis are nothing new, but a project funded by Action Medical Research has expanded our understanding of the condition and has shown that there is potential for a whole new type of treatment — one that may stop the disease in its tracks.

Out of 600,000 live births in the UK every year, about 8,000 will be very premature and weigh under 1500 grams (about 31⁄2 pounds). Sadly around 1,600 will die, 600 will develop cerebral palsy, and many others will have a variety of disabilities. So many lives, and the quality of many more lives, are at stake.

Some people find that their speech or understanding improves spontaneously, but many more face an uphill struggle, and some never recover, even with therapy. Nobody knows why some people make progress and some people do not. There are no drugs to improve the chances of recovery, and no-one knows if current speech therapy techniques actually work, or, if they do, why.

Into the unknown

While the brain itself has been increasingly mapped over the last few years, there are many unknowns as far as the working connections between different parts of the brain are concerned.

A major problem faced by neurologists caring for those with spinal cord injury is that damage to the brain and spinal cord cannot be repaired by the body. Therefore, patients with spinal cord injuries can suffer a loss of sensation or are paralysed for the rest of their lives.

The only way to bring back muscle control and sensation is to make the nerve fibres regrow down the spinal cord. This does not happen spontaneously because, although the nerve fibres try to regrow, they are blocked by the scar tissue that forms around the injury.

Many people know of Professor Heinz Wolff. Forever associated with the immensely popular BBC TV programme ‘The Great Egg Race’, Heinz is the archetypal eccentric professor. Heinz is also famous for his groundbreaking work done at the Brunel Institute for Bioengineering. And Touching Lives readers will be familiar with Heinz for his regular ‘Jargon busters’ column.