New fund to help families avoid risk of passing on devastating diseases
Fast Fact: Rare genetic diseases cause 35% of deaths in the first year of life
One of WA’s giants in neuromuscular genetic research, Dr Patricia Kailis AM OBE, whose work contributed to the discovery of the first known gene for Motor Neurone Disease, has given hope to families at risk of having children with devastating genetic diseases by providing cornerstone funding for genetic research in Western Australia.
Dr Patricia Kailis, who is well-known for her leading role in the cray fishing and pearling industry in WA, was also a pioneer in genetic counselling in an era before technology to identify genetic mutations had been developed.
Her research resulted in one of the first ever reductions in the debilitating muscle wasting condition Duchenne Muscular Dystrophy and the discovery of a an internationally significant large West Australian family with inherited Motor Neurone Disease.
Announcing the Dr Patricia Verne Kailis Fellowship, Dr Maria Kailis said MG Kailis Group had established the Fellowship to provide a career path to early and mid-career scientists working in the field of genetic disease research.
“The MG Kailis Group is establishing the Dr Patricia Verne Kailis Fellowship to not only honour the life-changing work achieved by Dr Patricia Kailis but to also encourage other philanthropists to secure the WA genetics research which is internationally recognised.
“The likelihood of families having children affected by genetic diseases that can cause death at birth or in early childhood, will continue unless the ground-breaking genetics research taking place here in Perth is given certainty.
“As a family company, we are substantially kick-starting a $1.5m campaign to support the genetic research commenced by Dr Patricia Kailis and Professor Byron Kakulas in the 1960s which was then acknowledged as internationally significant and which has since led to the discovery of the genetic causes of many devastating diseases.
Internationally renowned geneticist, Professor Nigel Laing AO, who leads the Neurogenetic Diseases Laboratory at the Harry Perkins Institute of Medical Research which has discovered more than 30 disease genes, says Dr Patricia Kailis’ genetic research has led to life-changing discoveries for many families across the globe.
“Patricia Kailis was one of the first researchers in the world to present results showing the incidence of Duchenne Muscular Dystrophy had been lowered through genetic counselling, which she began in the 1960’s well before the human genome had been mapped,” he said.
“Her research legacy has enabled our laboratory to contribute to a world map of known genetic mutations causing debilitating muscle and nerve diseases,” he said.
“One large family tree she developed traced the arrival to WA of an inherited motor neurone disease to an Englishman who arrived in Fremantle 1873 and subsequently had three wives and 17 children, and had the genetic mutation for the devastating neuromuscular condition.
“More than 500 people in WA are linked to his DNA. It is one of the world’s largest population clusters with this disease. Other WA families that Dr Kailis identified have given our laboratory DNA samples that we are still working with,” said Professor Laing.
Fellowship recipient, Dr Gina Ravenscroft who works with Professor Laing said secure funding was rare in medical research, where grant applications have less than a 15% chance of being funded and only 12% for female applicants.
“Funding the hunt for disease genes is a gift for affected families.
“In one case we identified mutations in a gene that caused one family to lose five of their seven babies within an hour of birth. That couple waited almost 20 years for an answer.
“Just last month a group in China published that another mutation, that we originally identified in a Perth baby of Chinese ancestry, is a common cause of this disease in the ethnic Chinese population.
“As a result of the Dr Patricia Verne Kailis Fellowship we will be able to provide more answers to more families and spend more time on training the next generation of research leaders,” Dr Ravenscroft said.