Rare genetic breakthrough for UniSA and SA Pathology teamFebruary 26 2018
An Adelaide couple’s struggle to start a family has resulted in the discovery of a new rare genetic disorder, diagnosed by specialists from UniSA's Centre for Cancer Biology and the Women’s and Children’s Hospital.
Vijay Mahalingham and his wife Sharmila lost two children before birth to a lethal kidney condition.
They were referred to the Paediatric & Reproductive Genetics Unit, where Associate Professor Christopher Barnett led the quest to find answers.
His laboratory identified the genetic anomaly that caused the kidney condition and further research found these to be the only known cases in the world.
The diagnosis meant that the couple faced a 1 in 4 chance of any future pregnancy also having the lethal kidney condition.
The team at WCH then guided the couple through IVF, and used the genetic information to identify a viable embryo.
They now have a healthy son, 21 month old Vishva.
Mr Mahalingham said words can’t describe how grateful he is to the genetics teams at the WCH and Centre for Cancer Pathology.
“This is a dream come true. Vishva is our treasure, our life, our soul and our future. Our life is complete” Mr Mahalingham said.
“We will remain thankful to A/Prof Barnett and the genetics unit for the rest of our lives and we wish the team brings similar happiness and bliss to other people in need.”
Assoc Prof Barnett says the case highlights the vital need for genetics research.
“We are learning more every day about the human genome and translating that into clinical practice.”
“The underlying causes of genetic diseases are being discovered at the fastest rate in history, at least one a week across the globe” Assic Prof Barnett said.
“That research allows us to make earlier diagnoses, provide appropriate treatment sooner and have a real impact on patient’s lives.”
While each condition is rare, one in seventeen people will be affected by a rare disease at some time in their life.
That has prompted strong national and international collaboration with the teams at the WCH and Centre for Cancer Biology, part of the Australian Genomic Health Alliance, a research network that helps identify and diagnose rare conditions.
Assoc Prof Barnett says “This collaborative approach to research and diagnosis of genetic conditions, gives families and patients greater access to answers than ever before.”
The WCH Paediatric & Reproductive Genetics Unit receives an average of 1,750 referrals every year.
Only 30-40% of those patients will be able to be diagnosed, leaving up to 70% of families without answers.
Currently around 7,000 rare genetic diseases have been identified, from the 20,000 genes in the human genome.
SA was the first state in Australia to gain NATA accreditation for whole exome sequencing in 2014.
On average it takes 4-7 years to diagnose a rare disease.
February 28 is World Rare Disease Day.
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