August, 2017
The NBIA Disorders Association board in June awarded its first grants for two projects to research Fatty Acid Hydroxylase-associated Neurodegeneration, or FAHN, one of the NBIA disorders.
The grants were made possible by the fundraising efforts of the Engblom family from East Islip, N.Y. Parents Trevor and Gina, along with their son Kyle who has FAHN, worked tirelessly for over a year to raise the money.
The family used our FirstGiving platform to accept donations earmarked for FAHN research, and supporters, including Kyle’s high school classmates, held community events to help them reach their goal. The family’s determination and perseverance exemplify their campaign slogan, “We will never give up hope.”
Professor Ody Sibon, working with Dr. Pascale Dijkers at the Department of Cell Biology, University Medical Center, Groningen, The Netherlands, received one of the grants for $25,000 to work on a fruit fly model for FAHN. The research team’s aim is to test for drugs that could successfully treat FAHN. Sibon demonstrated this promising strategy by developing a fruit fly model for PKAN, enabling, for the first time, the identification of potential compounds for that disorder.
The second grant, for $21,660, went to Dr. Sunita Venkateswaran at Children’s Hospital of Eastern Ontario in Canada. Venkateswaran’s team will be researching clinical, genetic and imaging features of FAHN to better understand the natural history of the disease.
The team will collaborate with international colleagues to identify as many patients as possible and also enter natural history data into the International NBIA Patient Registry as a participating clinical center. “I hope that this study will set the stage for future basic science research, which is extremely important in order to discover potential therapies for children and adults with FAHN,” Venkateswaran said.
Our organization is excited to make these awards. They move us forward in two important areas: the ability to do basic research and to learn more about the course of the disease so we can prepare for clinical trials. We hope this approach shortens the time to arrive at a treatment for FAHN.
