Student Research on Genetic Disease Personal for Alumnus
The stakes are high for Victor Talbird '00 and his wife Sandra, who helped finance a research project this summer for Davidson student Quin Brown '18 through the cureCADASIL organization.
Sandra's mother died in 2013 of complications of CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy). Since the disease is inherited, Sandra and all of her direct relatives, including the couple's two young children, are also at risk of developing CADASIL.
CADASIL is a rare and often misdiagnosed adult-onset disease that occurs when a mutation of the notch 3 gene causes thickening of smooth muscle cells in small blood vessels. It progressively blocks the flow of blood to the brain, leading to dementia and eventual death. At this point, there is no effective treatment.
Frustrated at the lack of research on the disease, Sandra's family members in 2012 co-founded a non-profit organization called "cureCADASIL" to increase awareness, lobby for funding and directly sponsor research efforts. Many family members are now involved. Sandra is an associate trustee and her husband, Victor '00, is a regular volunteer. Two of Sandra's aunts and her sister are also serving on the association board, and another sister is current president of the organization.
Search for a Cure
cureCADASIL awarded its first research scholarship to a Harvard professor in 2014, and again in 2015. Determined to promote the scholarship more broadly, Sandra turned to friends who suggested she make sure Davidson biology and neuroscience faculty and students were aware of the opportunity.
Assistant Biology Professor Rachid El Bejjani recognized that his research was not directly aimed at CADASIL, but he and his research students were studying the notch 3 gene pathway. El Bejjani urged Quin Brown '18, who hopes to pursue a medical career, to apply for the $5,000 scholarship.
Quin's research project involves peering into a microscope to study neuronal connectivity in the small C. elegans worm. The worms have three mechano-sensory neurons called the nerve ring that serve as its brain. Quin's research involves identifying C. elegans with broken nerve rings to determine if a mutation in a gene in the notch pathway is causing the break. If he can ascertain that a certain mutated gene is causing the defect, he will insert a defect-free copy of the same gene back into the worms to see if that fixes the broken nerve ring.
"We hope eventually to be able to say, ‘That gene, that pathway, is causing the defect.' If we find that the notch pathway is involved with neuronal connectivity in C. elegans, it is likely also involved with neuronal connectivity in humans," Brown said.
Researchers Meet Funders
It isn't often that researchers directly meet their funders, but the urgency of trying to find a cure led the Talbirds to make a mid-summer trip to Davidson with their daughters to find out more about the research and thank Brown and El Bejjani for their efforts.
Sandra came prepared with many questions when they met in El Bejjani's lab. Brown explained the project and showed them the worms through the microscope. He also expressed his gratitude for the opportunity, and said it was exciting to do his own original research without step-by-step instructions or hand-holding.
El Bejjani and Brown discussed with Sandra and Victor the implications of their findings thus far. In fact, on the morning of the visit, Brown had just made a successful transfer of a non-mutated gene into a worm–a critical next step in the research. He was excited to share the news with Sandra.
They also reported that the nerve ring defect may be congenital and not degenerative, as was previously believed.
Sandra said the research efforts give her hope.
"My hope is to find a cure for CADASIL within my lifetime or at least my children's lifetime," she said. "Supporting research like that at Davidson is one of the ways I think this can be achieved."