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by Catherine Brownstein, MPH, PhD

Interstitial cystitis/bladder pain syndrome (IC/BPS) is a chronic pain condition that causes urinary problems such as frequent urination, urgency, and discomfort or pain in the bladder. Although this condition affects many people, doctors don’t know much about what causes it.

Researchers studied the DNA of 109 people with IC/BPS and found some interesting results. One family had a gene variant that is associated with a rare condition called Branchiootorenal syndrome 2. Two other people had a gene variant that suggests they might have a different rare condition called Darier-White disease. Two other people had gene variants that suggest they might have Hailey-Hailey Disease.

Additionally, the researchers found that people with IC/BPS were more likely to have rare gene variants in a specific gene called ATP2C1 compared to people without the condition. This suggests that some people with IC/BPS might have rare genetic conditions that haven’t been diagnosed yet.

By studying the genes of people with IC/BPS, doctors might be able to find out what is causing their pain and urinary problems, and find better ways to treat the condition. However, more research is needed to confirm these findings, and to see if they can be applied to larger groups of people with IC/BPS.

Dr. Brownstein is an Assistant Professor in Pediatrics at Harvard Medical School and a Research Associate in the Division of Genetics and Genomics at Boston Children’s Hospital. As the Scientific Director for the Manton Center for Orphan Disease Research Gene Discovery Core, Dr. Brownstein has been instrumental in the elucidation of several new disease genes for conditions such as intellectual disability, nemaline myopathy, very early onset psychosis, SIDS, and hypophosphatemic rickets. Her current work focuses on the genetics and epidemiology of interstitial cystitis/bladder pain syndrome.