Gene tests on dogs boost hopes for haemophilia

Scientists on Tuesday said they had treated haemophilia in dogs by fixing a flawed gene, marking a step forward towards treating the condition in humans, too.

Haemophilia A, the most widespread form of the inherited bleeding disease, occurs in around one in 10,000 men.

It occurs through a malfunctioning gene, passed on through the maternal line, that causes a deficiency in a blood-clotting protein called Factor VIII.

There is currently no cure. Uncontrolled bleeding is treated by coagulant injection, although some patients' immune systema can react to this.

A team led by David Wilcox at the Medical College of Wisconsin in Milwaukee used a virus as a microscopic Trojan Horse in tests on dogs.

They tucked a functioning version of a gene called ITGA2B into a .

The virus was then used to "infect" three dogs with haemophilia A, delivering the good gene into stem cells that make platelets, or tiny cell fragments that clot the blood.

Two of the dogs that produced the highest levels of Factor VIII after the therapy had no episodes of severe bleeding throughout the two-and-a-half-year duration of the study.

None of the three dogs required drugs to suppress its after being given the new gene, according to the study, appearing in the journal Nature Communications.

Gene therapy is based on the idea that inherited diseases may be combatted by slotting in functioning to replace defective ones.

It burst on the medical scene in the late 1990s and is one of the most alluring areas of biotechnology, offering the theoretical promise of blocking or reversing inherited disease.

But this new frontier has also been hit by occasional setbacks, notably an unexpected or uncontrollable response from the immune system.

So far, successes have been few, limited to single-gene disorders—as opposed to complex multi-gene disorders that account for the commonest diseases.

In July, scientists in Italy said they had treated six children with metachromatic leukodystrophy, a disease of the nervous system which is caused by mutations in the ARSA gene.

Setbacks have included the death of an 18-year-old US volunteer, Jesse Gelsinger, in 1999, and the development of cancer among two French children treated for "bubble baby" syndrome, a chronic lack of .

add to favorites email to friend print save as pdf

Related Stories

First gene therapy to go on sale in Europe in 2013

Nov 05, 2012

Dutch biotech company uniQure said Monday it would start selling the first human gene therapy to be approved in the West by mid-2013 and predicted an explosion of similar therapies to come.

Gene therapy success for anaemia patient

Sep 15, 2010

In a rare success for the much-headlined vision of gene therapy, scientists said on Wednesday they had corrected flawed DNA in an 18-year-old man suffering from a debilitating form of anaemia.

Researchers identify way to increase gene therapy success

Oct 30, 2013

Scientists in The Research Institute at Nationwide Children's Hospital have found a way to overcome one of the biggest obstacles to using viruses to deliver therapeutic genes: how to keep the immune system from neutralizing ...

One-two punch could be key in treating blindness

Apr 09, 2013

Researchers have discovered that using two kinds of therapy in tandem may be a knockout combo against inherited disorders that cause blindness. While their study focused on man's best friend, the treatment ...

Recommended for you

Study explores drug users' opinions on genetic testing

2 hours ago

Genomic medicine is rapidly developing, bringing with its advances promises of individualized genetic information to tailor and optimize prevention and treatment interventions. Genetic tests are already guiding treatments ...

Study reveals gene expression patterns in pancreatic CTCs

Sep 22, 2014

Analysis of circulating tumor cells (CTCs) in a mouse model of pancreatic cancer identified distinct patterns of gene expression in several groups of CTCs, including significant differences from the primary tumor that may ...

User comments