Celmatix and Global Collaborators Announce Findings from Largest Genetic Study to Date on Endometriosis

Results reveal genetic basis of disease and link to other chronic pain conditions such as migraine and back pain that have implications for novel drug interventions

Celmatix, the leading women’s health biotech focused on ovarian biology, announced findings from its long-term collaboration with researchers from the University of Oxford and 24 other institutions to decode the genetic basis of endometriosis, a condition that globally impacts 1 in 10 women*. The study, published today in Nature Genetics, is the largest study on endometriosis genetics conducted to date and includes DNA from 60,600 women with endometriosis and 701,900 controls. Findings from the study demonstrate a shared genetic basis for endometriosis and other types of pain seemingly unrelated to endometriosis, including migraine, back pain and multi-site pain. The study also reveals that ovarian endometriosis has a different genetic basis from other disease manifestations. The results open up new avenues for designing new medical treatments targeting subtypes of endometriosis, or even the repurposing of existing pain treatments for endometriosis.

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Endometriosis has enormous implications for the quality of a woman’s life. This severe inflammatory condition, occurring in 5-10% of women of reproductive age (190 million globally), can cause chronic and intense pelvic pain, dysmenorrhea, dyspareunia, cyclic gastrointestinal or urinary symptoms, hematuria, fatigue, depression, anxiety, and infertility. Endometriosis has also been shown to increase the risk of cardiovascular disease systemic lupus erythematosus, rheumatoid arthritis, and impaired quality of life in relation to pain, psychological and social functioning.

It is characterized by the presence of tissue that resembles the uterine lining (endometrium) outside of the uterus. The location of these endometriotic deposits is primarily on organs within the pelvis (e.g. ovaries, pelvic surfaces and ligaments, bowel or bladder), although more rarely it can also be found outside of the pelvis. The huge impact on the health of many women is compounded by the fact that endometriosis can only reliably be diagnosed through surgery, and there is on average an 8-year delay to diagnosis and treatment from the first onset of symptoms. Treatment is limited to repeated surgeries and hormonal treatments with multiple side-effects.

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Study Findings:

While it has been known that endometriosis can run in families and there is a genetic component, very little was known about the causes of endometriosis and how these genetics play a role.

Findings from the landmark study revealed:

• There are 42 areas across the genome including variants that increase the risk of endometriosis. By linking these variants to the profiles of molecules in endometrium and blood, researchers also identified a range of genes that were differently expressed in these tissues and therefore had a likely role in disease development. This list of genes will support additional work to develop new treatments, better targeted to subtypes of the disease.
• Many of the implicated genes play a role in pain perception and maintenance and there is a shared genetic basis for endometriosis and a range of other chronic pain types such as migraine, back pain, and multi-site pain. This could be related to the so-called sensitization of the central nervous system, which makes individuals suffering from chronic pain more prone to other types of pain.

These findings open up the possibility of designing new pain-focused non-hormonal treatments or repurposing existing pain treatments for endometriosis.

Dr. Piraye Yurttas Beim, Founder and CEO of Celmatix explained: “We are now more than two decades into the post-genomic era, and other fields of medicine like oncology have been leveraging recent advances in technology, artificial intelligence, and genomics to improve the lives of cancer patients. It’s time to start applying these same groundbreaking technologies to diagnosing, curing, and eventually preventing endometriosis,” said Beim. “We are proud to be involved in this study, as these genetic findings will help to move us beyond surgery or hormones as the only playbook in treating endometriosis.”

Dr. Nilufer Rahmioglu, Senior Research Scientist at the Wellcome Centre for Human Genetics, University of Oxford, and first author of the study commented: “Using different datasets of women with and without endometriosis, some of which had unprecedented detailed data on surgical findings and pain experience collected using standardized criteria**, allowed us to generate a treasure trove of new information about genetically driven endometriosis subtypes and pain experience.”

Prof Krina Zondervan, Co-Director of the Endometriosis CaRe Centre, and Head of the Nuffield Department of Women’s & Reproductive Health, University of Oxford, senior author on the paper, commented: “Endometriosis is now recognised as a major health issue affecting women’s lives***. This study involved the analysis of DNA from more than 60,000 women with endometriosis worldwide, in an unprecedented collaboration of 25 academic and industry groups contributing their data and time. It has provided a wealth of new knowledge on the genetics underlying endometriosis, which will help the research community in their efforts to come up with new treatments and possibly new ways of diagnosing the disease benefiting millions of women worldwide.”

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