New discovery means diagnosis and support for people with rare gene abnormalities

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A global collaboration involving the Sunshine Coast Health Institute (SCHI) and the University of the Sunshine Coast (UniSC) has made a groundbreaking discovery that will improve the diagnosis and support of families affected by a rare genetic disorder. could speed up.

Professor Robert Harvey and Dr. UniSC’s Lachlan De Hayr, working at the Sunshine Coast Health Institute, was part of a team of genomics researchers who discovered a new disorder associated with intellectual disability and cardiac malformations associated with changes in the ZMYND8 gene (Zinc Finger MYND type with 8th gene). ).

The results were published in genetics in medicine.

ZMYND8 was already known to have important functions in humans such as DNA repair, transcription regulation and tumor suppression, but has not previously been implicated in human cognition and learning.

Functional studies showed that ZMYND8 variants abolished binding to other proteins involved in synapse formation and DNA damage responses.

Professor Harvey said people in Australia diagnosed with these ZMYND8 variants can now access disability finance through the National Disability Insurance Scheme (NDIS).

“Going forward, genetic testing for ZMYND8 gene variants will result in other affected children and families having access to prompt diagnosis and appropriate support,” Professor Harvey said.

“This will help avoid a lengthy journey that often involves misdiagnosis, referrals to multiple specialists, invasive testing and years of uncertainty.”

Functional studies were carried out by Professor Harvey and Dr. De Hayr at the Sunshine Coast Health Institute and Professor Annette Schenck at Radboud University Medical Center and Associate Professor Irina Voineagu at UNSW Sydney.

The collaboration included Associate Professor Tony Roscioli from Neuroscience Research Australia, UNSW Sydney and Randwick Genomics Laboratory from New South Wales Health Pathology, and Dr. Colleen Carlston of Boston Children’s Hospital and Harvard Medical School.

Clare Hanlon, director of operations at SCHI, said researchers are conducting targeted research in areas that will optimize treatments and health outcomes for people in our region.

“Our clinical research laboratories are used by researchers and clinicians from our partner organizations to study health-related diseases,” said Hanlon.

‘Some researchers, like Professor Harvey, contribute to national and international collaborations.’

“We also have academic researchers working with clinicians to develop new treatment models for patients that are put into practice right here at our Sunshine Coast facilities.”


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More information:
Kerith-Rae Dias et al., De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations, genetics in medicine (2022). DOI: 10.1016/j.gim.2022.06.001

Provided by the University of the Sunshine Coast

Citation: New Discovery Means Diagnosis and Support for People With Rare Gene Anomaly (2022 August 19) Retrieved August 19, 2022 from https://medicalxpress.com/news/2022-08-discovery-diagnosis-people-rare-gene .html

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