I have asked Dr Colin ( our inhouse Prof.) who has been an animal research scientist for many years, for a few thoughts on Stehhanie's talk and the subject.Thanks Colin.
Batten Disease, a rare inherited disease of children.
On Monday night we were treated to a fascinating talk by Professor Stephanie Hughes who is the Director of the Brain Health Research Centre at University of Otago. The topic was Batten disease, a rare fatal inherited disorder of the nervous system, which typically manifests between two and six years of age. Four cases are diagnosed per year in New Zealand and it affects around 6 in every 100,000 live births. The average life expectancy ranges from 8 to 20 years. The disease has several different forms that share the same symptoms and causality but vary in severity and age of onset.
Children who have the disease most often develop normally up to the point where symptoms start to appear. However, the symptoms are devastating and progress quickly causing blindness, deafness and paralysis in children often before they a, re teenagers.
Because Batten disease is genetic, it may affect more than one person in a family. The rarity of the disease means that it receives relatively low levels of funding.
Stephenie, a molecular neurobiologist, leads a team investigating the cause of Batten disease.
It appears that a number of genetic faults can occur in genes controlling the function of lysosomes, especially in the brain. Lysosomes help the cell to process waste material so that the components can be reutilised in the cell. Disfunction of the lysomes cause the build of waste materials to the point where the cells stop functioning.
Professor Bob Jolly, a veterinary pathologist at Massey University, identified a family of sheep that suffer from the ovine form of Batten disease. World leading research by Stephanies group led to a preventive/curative treatment for Batten in these sheep with gene therapy using a vector virus. This virus, which carried a correct copy of the diseased gene, was injected into the brain and when it infected the brain cells it introduced the correct gene into the cell. It was very successful. Subsequently this experimenat model in sheep has led to a group in the USA developing the technique for treating humans.
Stephanie's group is also involved with a range of other rare neurological diseases. They are funded largely by public donations.
On Monday night we were treated to a fascinating talk by Professor Stephanie Hughes who is the Director of the Brain Health Research Centre at University of Otago. The topic was Batten disease, a rare fatal inherited disorder of the nervous system, which typically manifests between two and six years of age. Four cases are diagnosed per year in New Zealand and it affects around 6 in every 100,000 live births. The average life expectancy ranges from 8 to 20 years. The disease has several different forms that share the same symptoms and causality but vary in severity and age of onset.
Children who have the disease most often develop normally up to the point where symptoms start to appear. However, the symptoms are devastating and progress quickly causing blindness, deafness and paralysis in children often before they a, re teenagers.
Because Batten disease is genetic, it may affect more than one person in a family. The rarity of the disease means that it receives relatively low levels of funding.
Stephenie, a molecular neurobiologist, leads a team investigating the cause of Batten disease.
It appears that a number of genetic faults can occur in genes controlling the function of lysosomes, especially in the brain. Lysosomes help the cell to process waste material so that the components can be reutilised in the cell. Disfunction of the lysomes cause the build of waste materials to the point where the cells stop functioning.
Professor Bob Jolly, a veterinary pathologist at Massey University, identified a family of sheep that suffer from the ovine form of Batten disease. World leading research by Stephanies group led to a preventive/curative treatment for Batten in these sheep with gene therapy using a vector virus. This virus, which carried a correct copy of the diseased gene, was injected into the brain and when it infected the brain cells it introduced the correct gene into the cell. It was very successful. Subsequently this experimenat model in sheep has led to a group in the USA developing the technique for treating humans.
Stephanie's group is also involved with a range of other rare neurological diseases. They are funded largely by public donations.
Sent from my Galaxy
