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Memorial University geneticist hopes weekend conference in St. John's will enlighten public of medical advances

Memorial University geneticist Sevtap Savas and a model of the double helix, the original visualization of the structure of DNA created by Watson and Crick in 1953. PETER JACKSON PHOTO
Memorial University geneticist Sevtap Savas and a model of the double helix, the original visualization of the structure of DNA created by Watson and Crick in 1953. Peter Jackson/The Telegram

Patients with the sudden cardiac arrest gene likely to be front and centre

ST. JOHN'S, N.L. —

If you think of genetics, you may conjure images of DNA profiles being used to catch and convict criminals.

But the most striking developments in DNA research have centred on health care.

“Everyone remembers Angelina Jolie,” said Memorial University geneticist Sevtap Savas, interviewed in her school of medicine office Tuesday. “She has a familial history of ovarian cancer. She made the decision to remove the tissues that might be affected.”

The gene defect she was positively tested for is found in only one per cent of women. Jolie had a double mastectomy in 2013 and later had her ovaries and fallopian tubes removed.

But you don’t have to look to celebrities for examples.



Newfoundland and Labrador has seen several cases of sudden cardiac arrest related to a rare genetic mutation. Many family members in whom the rogue gene has been detected have elected to have a defibrillator installed that automatically revives them if their heart stops.

This is a voluntary procedure.

“Consent is a very important party of (genetic) research,” said Savas, “and it should be informed, and that means the participants … know what are the risks and what are the benefits. Sometimes there is no benefit.”


Dr. Sevtap Savas has organized a day-long conference about human genetics. The overall aim is to increase the interest...

Posted by Memorial University of Newfoundland on Wednesday, February 12, 2020

Patients with the sudden cardiac arrest gene — along with other genetic diseases — are likely to be front and centre at a conference at MUN on Saturday organized by Savas and her colleagues.

The idea is to have everyone from patients to clinicians to researchers explain how advances in genetics have dramatically changed the face of health care in this province.

To get an idea how far the field of genetics has come, consider that the Human Genome Project, launched in 1990, was not completed until 2003.

It took scientists from around the world 13 years to identify and map every molecule that makes up the DNA of a human being. Even then, it wasn’t every molecule, it was just the more than three billion nucleotides that make up the bulk of the genome.



It’s like mapping a universe in a single human hair.

Savas holds a strand of her own hair to illustrate how scientists understood random pieces of the hair, but no one could see how the whole strand was put together.

“Now we are able to see the whole hair,” she said.

But even that milestone is obsolete by today’s standards.

“That Human Genome project lasted about 10 years … and now, with the technology today, we can do it in a week. A week. Amazing!”

Saturday’s conference is being held in the faculty of medicine lecture theatre (1M102) and is open to the public. It begins with opening remarks at 9 a.m. and continues until 6 p.m.

For more information and to register, visit mun.ca/publicengagement/engagememorial/genetics2020.php.

Peter Jackson is a Local Journalism Initiative Reporter covering health in Newfoundland and Labrador.

Twitter: @pjackson_nl


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