Carroll Fellow Spotlight: Shannon Glynn (NHS '16), Genetics and Amyotrophic Lateral Sclerosis

This summer, I had the opportunity to intern at one of the major centers of research in the United States: the National Institutes of Health. The NIH has a variety of institutes that study specific areas of science and I performed research in the Lab of Neurogenetics within the National Institute on Aging.

I specifically spent time researching the genetics of Amyotrophic Lateral Sclerosis, also referred to as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis is a dominant neurodegenerative disease that leads to the dysfunction of motor neurons that control voluntary muscle movement. Although rare, this disease is quite devastating and still has no cure.

I focused my research on the genetics behind the disease, or the way in which variations in DNA can cause the development of ALS. Since ALS is a dominant disease, meaning that one can develop the illness if just one copy of DNA is mutated, I looked for heterozygous changes in DNA obtained from ALS patients. I did this by Sanger sequencing DNA samples and interpreting the results. I analyzed an output of the nucleic acid bases, adenine, cytosine, thymine, or guanine and noted if one of the bases did not match the base in the sequence of the control, or healthy individual’s, DNA. I then compared these mutations to previously noted mutations in the same gene. Although the process seemed tedious at times, the results were worth it. Our research discovered two novel mutations present in the DNA of ALS cases, but not present in controls.

The theory is that if only people who have ALS have these identical changes in their DNA, then this specific change must play a role in developing the disease. I find it so fascinating that once small difference in a portion of DNA can lead to such a catastrophic disease. Yet, I am also optimistic that research such as this project will lead to discoveries that can help find a treatment or prevention for the disease. Although more work needs to be done to determine these mutations as sole causative factors, this discovery has brought us one small step closer to developing treatments.

Written by Shannon Glynn (NHS '16)