Webinar recording – Gene mutation linked to bladder exstrophy

A Conversation with Researcher Heiko Reutter, M.D., University of Bonn Hospital

Recorded on April 13, 2015 with a live audience. Hosted by Dr. Jeff and Kathleen Niezgoda, Co-Founders of A-BE-C, with Pamela Block, A-BE-C’s Executive Director.

An interdisciplinary team of researchers under the direction of the University of Bonn Hospital recently identified a mutation in a specific gene to be associated with classic bladder exstrophy. The research, published in March 2015 in PLOS Genetics is raising important reactions and questions from patients, families and professionals.

A-BE-C is fortunate to be among the first to speak with Dr. Heiko Reutter, the lead researcher, to explore the details and impact from the perspective of patients, their families, and their health care providers in this live webinar.

What was discovered?

A genetic link to classic bladder exstrophy. Certain variations in a specific gene — ISL1 — and classic bladder exstrophy have been identified. This tells us that some people are genetically predisposed to classic bladder exstrophy given the presence of environmental trigger(s). It is not yet know what those environmental triggers could be. Previously the cause of bladder exstrophy was unknown.

iStock_000001792275_MediumWhat do patients and families need to know?

  • For parents of children with bladder exstrophy: It’s not your fault. Bladder exstrophy is caused by a genetic birth defect. There is nothing parents can do to prevent it.
  • For those who have bladder exstrophy: This research takes some of the curiosity out of why you have this rare disease. It also shows that the risk of you passing bladder exstrophy on to your children is very low.

Will there be more research?

Yes. The next goal is to reveal as much as possible about what makes some people genetically predisposed to the condition. In other words, the research will focus on taking the mystery out of birth defects.

How can I help advance the research?

You can get involved in the next scientific trial. A larger sample size of people with bladder exstrophy is needed to help facilitate advancements in the research. Families can get involved by giving a blood sample.

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