Science & Tech: Michelle Dickinson

Michelle Dickinson. Photo / Paul Petch

A song, a charity and some sheep are helping fight a rare and always fatal disease that strikes children.

What do the All Blacks, a gospel choir, a scientist and a sheep have in common? It might sound like the start of a bad joke, but it describes a science fundraising event I attended this week in London.

Cure Kids is a New Zealand charity that funds research to help find cures and treatments for conditions that affect children.

This year, it has partnered with the All Blacks to release a collaborative Rugby World Cup supporter's song called Team Ball Player Thing to raise money for New Zealand scientists leading research into cures for Batten disease.

About four New Zealand children a year are born with Spielmeyer-Vogt-Sjogren-Batten disease, which is the most common form of a group of disorders called neuronal ceroid lipofuscinoses or NCLs for short.

This neurodegenerative condition usually shows symptoms at an early age and results in a steady decline in health.

It has been described as being like a combination of Alzheimer's, Parkinson's, epilepsy and blindness. Some children survive for a few months and some a few years, but a slow body shutdown to a vegetative state leading to premature death is inevitable.

Batten disease is genetic and occurs when a child inherits two copies of the defective genes, one from each parent. We have 20,000-25,000 protein coding genes in our cells, all lined up along 23 pairs of chromosomes. Most of our genes control the manufacture of proteins with different functions including enzymes which can speed up molecular chemical reactions. Scientists still don't know what many of these proteins do, but eight genes have been linked to varying forms of Batten disease and its symptoms have been linked to a buildup of substances called lipofuscins in the cells of the brain, eye, skin and muscles.

It has been described as being like a combination of Alzheimer's, Parkinson's, epilepsy and blindness.

It's not only humans that have Batten disease; several breeds of sheep including Borderdale, Merino and South Hampshire have natural genetic mutations, including the genes CLN5 and CLN6, that can lead to a Batten type illness.

By breeding sheep with the mutated genes, Dr Stephanie Hughes from Otago University and Professor David Palmer from Lincoln University have been able to study the disease in large animal models to try to understand how it progresses in humans.

They have been using a gene therapy technique that involves injecting the sheep with viruses containing correct copies of the CLN5 and CLN6 genes. The virus enters the body and infects the sheep cells by introducing its own genetic material. In this case the genetic material is the correct form of the genes, so the infection replaces the mutated genes with non-mutated ones.

Initial results are looking good with all six CLN5 Batten disease-affected sheep which had the treatment showing no signs of ill health or disease.

Gene therapy is still a new technique and although more than 1700 clinical trials for various therapies are being carried out, only one commercial gene therapy is available to the public.

Finding a cure requires taking the research from the sheep model to human trials which is an expensive process. So, accompanied by a gospel choir, Jason Kerrison sang a live rendition of the charity song to start the Cure Kids fundraiser night at the New Zealand High Commission in London and anyone who buys the song at www.kiwiscurebatten.com or on iTunes will help fund New Zealand late infantile Batten disease research.

Science can be a hard thing to fund, but great charities like Cure Kids are really helping to keep great research going.

Dr Michelle Dickinson, also known as Nanogirl, is an Auckland University nanotechnologist who is passionate about getting Kiwis hooked on science. Tweet her your science questions @medickinson