Photo: Stephanie Felker is a Ruth L. Kirschstein Predoctoral Individual National Research Service Award (F31) recipient. (HudsonAlpha Institute for Biotechnology)
A doctoral candidate at The University of Alabama in Huntsville (UAH) who is doing graduate research at the HudsonAlpha Institute for Biotechnology to determine the genetic causes of early onset childhood neurodevelopmental disorders has been selected by the National Institutes of Health (NIH) to receive a Ruth L. Kirschstein Predoctoral Individual National Research Service Award (F31).
Stephanie Felker, who is in her third year pursuing a doctorate at UAH, a part of the University of Alabama System, is working in the HudsonAlpha lab of Dr. Greg Cooper, who is also an affiliate of the Department of Biological Sciences at UAH. She’s advised at UAH by Dr. Joseph Ng, a biological sciences professor.
She’ll receive a stipend and tuition funding as a recipient of the highly competitive F31 grant. As a parent, Felker will also receive $2,500 in child care funding. The grant aims to enable promising predoctoral students with potential to develop into productive, independent research scientists, by obtaining mentored research training while conducting dissertation research. Funding can be extended for up to five years.
Felker is looking farther into areas of the human genome to try to find the causes of early-onset neurodevelopmental disorders like epilepsy.
“I analyze intronic regions of the genome involved in the splicing of neurodevelopmental genes,” she says. “These disorders are typically present in infants and young children, and by identifying these variants and splicing mechanics we can better understand these diseases and potentially provide a foundation for treatment or symptom management in the future.”
Introns are sections of a genome that do not code for proteins. Felker is focusing on the phenomenon of poison exon inclusion, the developmental importance of which is still largely unclear.
Poison exons are believed to play an important role in gene expression and cell growth and development. However, it is becoming clear that certain variations in poison exons are involved in disease.
For example, Dr. Cooper’s group previously showed that variants in a poison exon of the gene SCN1A results in loss of function, causing Dravet Syndrome, a neurodevelopmental disorder causing prolonged seizures in the first year of life.
During her project, Felker will scale up her analysis to detect and assess new and known poison exon inclusion in more than 3,000 genes associated with neurodevelopmental diseases and Autism Spectrum Disorder in the developing brain. She will also look for variants in these poison exons in patients with neurodevelopmental disorders to try to determine if any of them are contributors to the disease.
Felker says she became associated with Dr. Cooper’s lab after a friend mentioned that he was a computational biologist there and she found that Dr. Cooper’s research complemented her own.
“Moral of the story,” she says. “Your college study group can become lifelong friends, so always be friendly, collaborative and encouraging to those around you.”
Felker is one of the most inspiring students in the Department of Biological Sciences, says Dr. Paul Wolf, department chair.
“Stephanie is among a group of graduate students working on a degree at UAH while conducting research at the HudsonAlpha Institute for Biotechnology,” Dr. Wolf says. “The close collaboration between UAH and HudsonAlpha is one factor that encourages excellent students like Stephanie.”