Pennsylvania Physician & Mother Dedicated to Funding Gene Therapy Research

A.J. Henwood is a 9-year-old boy, who loves animals, plays the trumpet, and has dreams of playing for the Philadelphia Phillies someday. He also has a rare disease known as NF2 — formally known as neurofibromatosis Type 2. Sadly, to this day, there is no cure for the rare disease and the average life expectancy for an individual diagnosed is roughly 30 years old. Rather than losing hope, A.J.’s mother, Nicole Henwood, has dedicated her life to finding a cure.

As an anesthesiologist at Premiere Orthopedics in Exton and founder of NF2 BioSolutions — a nonprofit which seeks to accelerate gene therapy research for NF2 — Nicole works four days a week, and spends her free days, nights, and weekends committed to finding a cure.

What is NF2?

NF2 is a rare genetic disorder that is primarily characterized by noncancerous tumors of the nerves that transmit balance and sound impulses from the inner ears to the brain. Humans have approximately three million pairs of DNA in the body, and A.J. is missing four of the pairs in the NF2 gene. This gene is responsible for making a specific protein, and when missing, that allows tumors to form in the body. The nervous system is then attacked, forcing loss of hearing, the ability to walk, to speak, to swallow and to see.

Making a Difference

Gene therapy targets the underlying cause of a disease and has the potential to replace the faulty NF2 gene with a healthy copy of the gene; or to cause existing tumor cells to die off through a process called apoptosis. 

In some diseases, like diabetes or hypertension, several genes are involved. However, with NF2, one specific gene is mutated. Therefore, if this one gene can be fixed, experts could essentially stop the disease by stopping the tumors from growing.

The foundation is raising money to fund this gene therapy research and are working with three primary labs. All three labs build on other gene therapies that have been approved by the U.S. Food and Drug Administration for other diseases.

It is estimated to take approximately 10 years from a therapy’s conception to reach the market. The foundation is two years in and shows no signs of stopping. If the funds are available and the science works, the process can move faster.

“I do have hope, I do. I wouldn’t be doing this if I didn’t. I have strong hope that we will have a therapy for A.J. so he can have a healthy life,” said Henwood.

Information provided by The Philadelphia Inquirer.