Neurogenetics grant offers opportunities for undergraduates
March 28, 2023
The NextGen NeuroGeneticists (NG2) Summer Undergraduate Research Grant program provides driven undergraduate students with opportunities to perform cutting-edge neurogenetics research at Northwestern University.
Luna Nguyen, a second-year Northwestern University undergraduate student, completed a biomarker project for the neurodegenerative disease spinocerebellar ataxia type 1 (SCA1) through NG2 in 2022.
SCA1 is marked by the difficulty in motor control, which significantly decreases the patient’s quality of life and life expectancy, she says.
Currently, there are only two methods of determining the progression of the disease: genetic testing and the Scale for Assessment and Rating of Ataxia (SARA), both of which have limitations. However, a biomarker for SCA1 would address the flaws of the two existing techniques since biomarker levels can be easily and objectively quantified from blood samples.
Working in the lab of Puneet Opal, MD, which had already successfully produced and tested a mutant ataxin-1 protein with more than 80 repeats against the biomarker assay, she worked to design another mutated protein, one much closer in length to the mutated protein in humans, that could be used to test the biomarker assay. She also learned about and took on the responsibility of caring for and genotyping mice.
"My NG2 experience has been very helpful for my career at Northwestern," Nguyen says, explaining that she walked away with important lessons such as cultivating curiosity to ask innovative questions, keeping abreast of new science across a variety of disciplines to inform specific research goals, and learning how to present her findings to different audiences.
She also added several research techniques to her tool belt. "For example, I am now comfortable with running gels, preparing PCRs, and producing proteins using bacteria," Nguyen says.
In 2020, Mo Kinsinger, now a student at Northwestern University Feinberg School of Medicine, completed a detailed candidate gene study looking for an association between an increased burden of rare genetic variants within skin pigmentation genes and Parkinson’s disease.
Candidate gene studies can help scientists identify genetic variations associated with disease risk or causality. Cataloguing all the genetic changes associated with neurodegenerative diseases not only helps scientists understand what causes them but also develop targeted therapies to treat them.
Working in the lab of Steven Lubbe, PhD, in summer 2020, Kinsinger sought to understand whether a person's genetics could be a factor connecting Parkinson’s disease and malignant melanoma.
"Previous studies have shown that people with Parkinson’s disease are more likely to get malignant melanoma, a type of skin cancer, and vice versa," Kinsinger said of the basis for her research. "However, we don't understand why these two diseases are connected."
Unfortunately, none of the skin pigmentation genes in Kinsinger's project demonstrated a statistically significant enrichment of rare damaging variants associated with Parkinson’s disease, she says, although several seemed to be correlated. Her project also contributed to a separate paper published by Lubbe's lab in 2022.
Since beginning her medical student career, Kinsinger has continued to conduct research in neurogenetics, working with previously unknown genetic variations that scientists have learned can cause epilepsy and pediatric metabolic disease.
"I’m so grateful to be able to continue working with Northwestern Neurology faculty in the ever-expanding terrain of genetics research," Kinsinger says.
Learn more about the Simpson Querrey Center for Neurogenetics.