Endometriosis: Using genetics to uncover the cause

 

Endometriosis is a complex syndrome that can affect 1 in 7 women of reproductive age, and result in constant and intense pelvic pain, fatigue, depression, anxiety and infertility.

It is caused by tissue that resembles the uterus lining, the endometrium, growing outside the uterus. Presence of this tissue outside the uterus can lead to the formation of lesions, cysts, scarring and inflammation.

1 in 7 women and those assigned female at birth have endometriosis
By the numbers: 1 in 7 women and those assigned female at birth have endometriosis

Largest-ever endo study

Despite the severity of endometriosis, and the number of sufferers, we still have limited knowledge of the causes of this disease. Professor Grant Montgomery and Dr Sally Mortlock are using genetics and genomics to uncover more.

Professor Montgomery, Dr Mortlock and their team contributed to the largest-ever genetic study of endometriosis, finding new data about the variants that increase risk of the disease. The study involved 25 research groups from around the world, 60,000 women with endometriosis and 700,000 women without the disease.

A portrait of Dr Sally Mortlock
Dr Sally Mortlock

Genetics gives us clues

“Endometriosis is a complex disease that can present in a variety of ways. Studying genetic risk factors can give us clues to the biological processes that are the basis for onset and progression of disease,” Dr Mortlock said.

The new study has increased the number of genetic regions associated with endometriosis from 17 to 42, including new regions also associated with pain and other inflammatory conditions.
 

New treatments and quicker diagnosis

“We are following up these results to find out which genes in these regions increase risk and identify new drug targets, leading to new treatments.”

The detailed genetic data also puts researchers and clinicians in a better position to diagnose endometriosis more rapidly – the symptoms are so varied and similar to other conditions that it has traditionally taken 8-10 years for a sufferer to receive a diagnosis.

With a family history of endometriosis herself, Dr Mortlock is driven to make a difference. “Rather than watch the next generation in my family suffer at the hands of this disease, I want to be the one that takes it on.”



“Endometriosis is a complex disease that can present in a variety of ways. Studying genetic risk factors can give us clues to the biological processes that are the basis for onset and progression.”   – Dr Sally Mortlock

 

 

 

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