Understanding Birth Defects in the Genomic Age

By Ashish Deshwar and Nicole Edwards

Two weeks ago, we had the opportunity to attend the Company of Biologists Workshop, “Understanding Birth Defects in the Genomic Age”. This workshop brought together a diverse collection of basic developmental biologists, human geneticists and clinicians to discuss the current challenges and opportunities in the field of birth defects research. We can almost guarantee you that none of the groups of attendees would normally overlap at any other meeting. And yet, what quickly became apparent was that there was so much in common between everyone in attendance.

The setting for the meeting was stunning. Set at Wiston House in the English countryside not too far from Brighton, history oozed from every corner of the building. From the delicious catering, to the beautiful (but rainy) countryside walk, to the very interesting talk on the history of the house, this venue provided an epic background for what would be an extremely stimulating three and a half days.

The meeting was unique right from the start. It was definitely the smallest meeting we had ever attended. There were only about 33 people total, and we each had the opportunity to introduce ourselves to the group on the first day. We were asked to give a few slides introducing ourselves as well as a “problem” (a topic that we would like help with) and “solution” (something that we were good at/could use to help others). Right away this encouraged discussion and it became quickly apparent how each of our skillsets would be able to help not just each others’ research, but contribute a unique perspective to the group.

In addition to traditional scientific talks, we had the opportunity to sit down and talk amongst the group about some of the issues which we would like to address. Collectively, birth defects are the number one cause of infant mortality in the USA, but it is sometimes challenging to justify studying individual rare developmental defects. Many of our discussions centred around how to increase public awareness of our research and to emphasize the huge impact of return of results to families – even if a genetic diagnosis doesn’t lead to a treatment, patients and families can be hugely comforted to know more about the underlying cause. John Wallingford gave a stirring talk about the disturbing history of society’s (including the medical profession’s) poor treatment of individuals with congenital anomalies. There was unanimous agreement amongst the group that we needed a new term for birth defects that was both more sensitive and more inclusive. There was much discussion, but the group was not able to come to a consensus as to a better term moving forward. One of our favourite suggestions was that perhaps we needed to create a new word entirely!

One of the goals of the workshop was to generate actual concrete steps to address the above issues. Working groups were established to draft a white paper, review articles, social media campaigns, and other methods to increase the awareness of this very important field of research. One of they key action items became bringing together a similar group of people again to build on the ideas started at this workshop.  The Company of Biologists is already planning a meeting on developmental disorders for 2021; hopefully this will provide another opportunity for a meeting of minds to continue to forward the cause.

As two early career researchers funded by the Company of Biologists to attend the workshop, we gained great insight into the diverse approaches being used to study birth defects research. In addition, it provided a unique opportunity to discuss and learn about larger scope projects such as impacting public awareness and advocating for increased funding for a particular area of research.

At the conclusion of the meeting everyone left inspired and ready to act. We are looking forward to 2021!

Find out more about The Company of Biologists’ Workshops, including our 2020 schedule and details of how to apply for funded places, here:

biologists.com/workshops

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