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Children’s Hospital Physician-Scientist Leads Federal Panel on Neurofibromatosis Research

OKLAHOMA CITY – A physician-scientist with The Children’s Hospital at OU Medicine has been elected chair of a federal panel that helps to guide research in neurofibromatosis, one of the more common genetic conditions.

Sanjay Bidichandani, MBBS, Ph.D., has assumed leadership of a U.S. Department of Defense review panel that determines the trajectory and funding of research into neurofibromatosis, a condition that predisposes people to cancer. The panel is part of the DoD’s Congressionally Directed Medical Research Program in Neurofibromatosis.

DoD-funded research is typically associated with military-related injuries, such as traumatic brain injury and post-traumatic stress disorder. However, the DoD has a separate arm for research into many diseases and conditions. It awards about $15 million annually for neurofibromatosis.

“Because neurofibromatosis is a genetic condition and knowing that people can develop malignant tumors because of it, we want to develop effective screening, imaging and surgical techniques, better genetic diagnostic methods, and specific therapies to help people with the condition,” said Bidichandani, chief of the section of Genetics and Children’s Hospital Foundation Claire Gordon Duncan Chair in Genetics in the OU College of Medicine.

Neurofibromatosis is an autosomal dominant condition – inheriting an abnormal gene from either parent can cause the condition in a child. There are two main types of neurofibromatosis, NF1 and NF2. People with NF1 typically have bumps all over the body called neurofibromas. The bumps themselves are benign, but over time, they carry a risk of malignant transformation – becoming a fairly aggressive cancer. In NF2, the tumors are usually inside the brain, where they affect the nerves that conduct hearing, or can press against other parts of the brain.

While there is no average age of diagnosis for NF, it is often discovered in children who have an aggressive form of the condition. Only then do parents realize they have bumps that represent the condition, though usually a less serious form. The cause for the wide variability in clinical severity, even among members of the same family, remains largely unexplained, Bidichandani said.

The Children’s Hospital has a dedicated NF clinic in the OU Children’s Physicians building, where doctors, a physician assistant and genetic counselors care for patients and their relatives.

“Because NF is a cancer predisposition syndrome, children and adults must be screened on a regular basis,” Bidichandani said. “If their bumps are getting too large or are pressing against something else, they may need to be surgically removed. And certainly we monitor to make sure they aren’t becoming cancerous.”

In his role with the DoD panel, Bidichandani leads a group that performs the final review of grant applications and allocates the money to researchers across the nation and internationally. He also leads a vision-setting panel in planning the course of research for the future, taking into account new developments in the field and areas where grants can make the most impact toward improved patient care. A portion of the grant portfolio also funds a clinical trials consortium in which several medical centers pool resources to test novel therapies for safety and effectiveness.