Donor funds support study in premature ovarian insufficiency

Sinai Health is leading a study that could uncover the genes responsible for premature ovarian insufficiency (POI), in partnership with Women’s College Hospital and supported by donor investment in the Centre for Mature Women’s Health.

This condition, which is defined as menopause before the age of 40, affects nearly four per cent of women worldwide. Yet its causes are often unknown, leaving millions of women without answers about why this is happening to them.

There are some definitive causes, like following a hysterectomy or undergoing chemotherapy. After that, the influence of other factors is under-explored in medical research. But, emerging evidence suggests that there is likely a genetic cause of POI.

“We know that there is a strong familial influence on the age a woman goes through menopause, and we know there are genes that have been established as potential candidates responsible POI,” explains Dr. Wendy Wolfman, co-principal investigator of the study and director of Sinai Health’s Centre for Mature Women’s Health. “What makes our study unique is that we’re performing whole exome sequencing in both the patient and their family member with POI. When you have two people with the same problem, you’re more likely to figure out what the causes are.”

Sinai Health is uniquely positioned to lead this research as Canada’s only clinic specializing in POI. The study will be conducted as a pilot project over two years, examining saliva samples from ten sets of women with suspected familial POI.

“Our hope is to gather enough evidence around a gene or genetic pattern associated with POI to launch a larger-scale study and build the body of research around this understudied condition,” says Dr. Wolfman. “This group of women really needs answers.”

The impact of POI on quality of life can be devastating. Not only does it cause infertility at a time when many women are planning or starting families, but it comes with all the symptoms of menopause like hot flashes, mood swings and trouble sleeping as well as increased risk for osteoporosis and cardiovascular disease.

Identifying genes responsible for the development of POI, may help physicians identify individuals at high risk for POI before it has become clinically apparent. This could provide women at high risk of developing POI the opportunity to consider fertility preservation, and to explore psychological and emotional preparation for early menopause. Ultimately, studying the genetic underpinnings of POI could one day lead to the development of a treatment or a cure to avoid premature menopause entirely.

This could be life-changing for millions. Just ask Elena, who was only 30 years old when she first experienced symptoms of POI. On top of processing the grief around not being able to have the family she’d pictured, she was experiencing significant hormonal shifts and symptoms of menopause. Sinai Health’s Dr. Lindsay Shirreff helped her manage her symptoms, and she’s become a major advocate for improving care for women with POI:

“This work is so important because doctors are not taught a lot about menopause. And so, when you go to your family physician, they have no idea how to help you or treat you. There needs to be help for women. There needs to be guidance. I was lucky because I had a great doctor who took my concerns seriously.”

While this study is an important step forward, Dr. Wolfman urges that more research in women’s health concerns is needed, especially as they relate to menopause – and most acutely in underrepresented groups like women with POI.

“Remember it’s only in the last 10-15 years that women with early menopause have been gathered together to even be able to start identifying problems, because we have the only premature ovarian insufficiency clinic in Canada,” she says. “We used to think POI made up one per cent of the population, but it actually makes nearly four per cent of young women worldwide, which is a huge number when you think about it.”

Thanks to donor support for the $50-million campaign to establish the Centre for Mature Women’s Health, more research questions like this will be answered. As the campaign progresses research will be a major focus, with ambitious plans to recruit several world leaders in women’s health and menopause to donor-funded research chair positions.