SCIENTISTS TACKLE TREATMENT FOR WORLD'S FIRST KNOWN GENETIC DISEASE

Scientists are finally tackling a genetic disease first discovered more than a century ago, according to results presented at the international Alkaptonuria (AKU) Society conference held at University College London Hospital on Wednesday 13 June 2007.

World medical experts heard from US genetic specialist Dr William Gahl who presented data from trials of a potential treatment, Nitisinone. They also heard from the AKU Society’s research team at the Royal Liverpool University Hospital, which is exploring avenues for genetic therapy.

AKU is a progressive, inherited condition that affects up to 250 people in the UK. Genetic mutations in these people cause malfunction of a single enzyme involved in breakdown of tyrosine, an amino acid “building block” of protein. This malfunction causes dangerous accumulation of the pigment ‘homogentisic acid’ throughout the body. The pigment build-up causes serious complications for patients, including arthritis of the spine and large joints and heart problems.

Presenting his work, Dr Gahl, Clinical Director of the US National Human Genome Institute, said: ‘The trial results show that Nitisinone offers hope of a treatment for AKU patients. Over a century after AKU was discovered, we’re getting close to being able to help those people affected, but crucial hurdles still remain in understanding the disease before we have a certain treatment.’

The AKU Society works with the only AKU research group in the UK, at the Royal Liverpool University Hospital, where it has developed a strong partnership with the Department of Clinical Biochemistry and Metabolic Medicine and the Department of Human Anatomy and Cell Biology. On a European scale, the AKU Society has worked with the Royal Liverpool University Hospital to build a consortium of research centres with the University of Sienna (Italy), the University of Leon (Spain), the University of Warsaw (Poland) and a biotechnology company in Malta called GenSeq. The project will explore whether gene therapy can be used to treat this illness.

Dr L Ranganath, Consultant in Clinical Biochemistry and Metabolic Medicine at the Royal Liverpool University Hospital, who was instrumental in setting up this research group, is closely involved in the clinical and research programme being developed into AKU. He said: 'I think we are in for an exciting time to try and understand Alkaptonuria better and possibly develop new treatment approaches for this condition.'

Professor Jim Gallagher, Head of the Department of Human Anatomy and Cell Biology at the University of Liverpool, said: ‘Thanks to our partnership with the AKU Society, we are researching how homogentisic acid affects AKU patients and whether gene therapy can be used as a treatment. If successful, this could have serious positive implications for many other genetic diseases.’

The AKU Society also educates UK health professionals about the symptoms of the disease and is warning parents to watch out for the tell-tale signs of darkened urine. Robert Gregory, co-founder of the AKU Society and an AKU sufferer himself, said: ‘Today there is no cure or treatment that can help me and the many other people affected by this debilitating disease. Research so far is promising, but there’s still a long way to go to provide a real cure for patients, which is why the AKU Society needs all the support it can get.’

Mr Gregory, Lord Kenneth Ward-Atherton, Dr Ranganath and chairman Dr Nick Sireau set up the AKU Society in 2003. Lord Ward-Atherton, as patron of the AKU Society, has been instrumental in fostering the growth of the organisation and obtaining public profile for people with AKU. For more information and to support the AKU Society visit www.alkaptonuria.info

To download Dr Gahl's presentation to the conference, right click here (choose 'save target as', 10MB file).

To download Dr Ranganath's presentation to the conference, right click here (choose 'save target as', 3MB file).