Skip to Content

Postbac Seminar Series: March 15, 2018

Series: Science Skills; Speaking

Mar 15, 2018

This event is recommended for: Postbacs.

Science isn't complete until the results have been shared with others, and talking about your results is one of the important ways of making them public. The Postbac Seminar Series provides a unique opportunity for two Postbacs each month to present their research to a diverse audience of their peers.  The atmosphere is relatively informal and non-threatening.  The series allows Postbacs who attend to learn about the different types of biomedical research being conducted at the NIH while meeting other postbacs.  Read more about the seminar series.

This month's presenters are:

Natalie Murphy, NIA

Title: Age-related penetrance of the C9orf72 repeat expansion

Summary: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive motor neuron disease that can occur with frontotemporal dementia (FTD), and a pathogenic hexanucleotide repeat expansion within the C9orf72 gene has been identified as the major cause of these two diseases. The variable phenotype associated with this mutation complicates clinical trial efforts, and identifying parameters that alter onset age are essential to better understanding this locus, and to enhance predictive counseling. Data from 1,170 individuals were used to model penetrance, and our analysis showed that the penetrance was incomplete and age-dependent. Familial and sporadic penetrance had nearly identical penetrance by age; carriers with pure ALS had earlier penetrance than pure FTD; male carriers had earlier penetrance than females; spinal-onset cases had earlier penetrance compared to bulbar-onset. Additionally, an older age of onset among female bulbar-onset cases was found.

Bio: Natalie earned a B.S. in Molecular and Cellular Biology from Johns Hopkins University in 2016. She then joined the Laboratory of Neurogenetics, which investigates the basis of neurodegenerative diseases, under the mentorship of Dr. Bryan Traynor, who specifically focuses on the genetic etiology of ALS and FTD. She will be starting a PhD program in the fall of 2018.

Ryan Mayers, NIA

Title: Evaluating Candidate Genes and Establishing New Isogenic iPSC Lines for Parkinson's Disease

Summary: Parkinson's Disease (PD) is the second most-common neurodegenerative disease, affecting 1-2% of the population over the age of 65. While many genes have been implicated as having causative or risk-inducing mutations in PD, many of the underlying mechanisms of the disease remain unclear. In addition to this wide genetic variation, studies of PD are complicated by the fact that existing models incompletely recreate human disease phenotypes, necessitating the use of multiple systems for study. Our work examines candidate genes from a known risk locus in an unbiased way to expand upon knowledge of PD's genetic and molecular causes, and attempts to establish a new isogenic cell line for use in the lab.

Bio: Ryan received his B.A. in Biology (concentrating in neurobiology) from the University of Pennsylvania in 2017. After graduating, he joined Dr. Mark Cookson's section in the NIA's Laboratory of Neurogenetics, where he works on gene expression in PD and developing new model systems for the lab. He will begin his M.S. in Biotechnology at Northwestern University in September 2018, and hopes to continue to a PhD.

Carina Graham, NIDDK

Title: Modeling Rare Diseases in C. elegans

Summary: Rare diseases are underfunded and underrepresented in medical research, and the progress of developing treatments is very slow. The nematode system is one of the most promising avenues for disease modeling and treatment development. Despite the anatomical differences between human beings and C. elegans, there is considerable genetic homology between the two species, and when disease-causing mutations are replicated in the nematode genome, orthologous phenotypes can be characterized and subsequently suppressed. The Golden lab's research ranges from cardiac arrhythmias to mitochondrial dysfunction to disorders of deglycosylation. Genome-editing tools are used to replicate exact patient mutations; then, assays are developed to characterize phenotypes and search for suppressors. This process helps to illuminate intricate biological pathways and genetic interactions, and provides a basis for treatment development.

Bio: Carina Graham recently graduated from Eckerd College, where she studied molecular biology, literature, chemistry, and creative writing. In the future, she hopes to teach at a university and conduct research on gene replacement therapy.