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Postbac Seminar Series: February 13, 2018

Series: Science Skills; Speaking

Feb 13, 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:

Kacey Guenther, NHLBI

Title: Eltrombopag Promotes DNA Repair in Human Hematopoietic Stem and Progenitor Cells: Implications for the Treatment of Fanconi Anemia

Summary: Fanconi anemia (FA) is an inherited genomic instability syndrome characterized by faulty DNA repair. Bone marrow failure (BMF) is the primary cause of morbidity and mortality in patients with FA. The only curative treatment option is bone marrow transplantation; however, donor availability, graft failure, and transplant toxicities are significant hurdles in the treatment of FA-associated BMF. Eltrombopag is a small molecule agonist of the thrombopoietin (TPO) receptor that has been shown to be effective in the treatment of subjects with acquired BMF. TPO promotes DNA double strand break (DSB) repair in HSPCs by increasing DNA-PK dependent non-homologous end joining (NHEJ) repair efficiency, but is unsafe for clinical use. We hypothesized that eltrombopag may also stimulate DNA repair activity, and created a model of FA in human hematopoietic stem & progenitor cells to conduct preclinical studies.

Bio: Kacey Guenther earned a B.S. in Genetics, Cell Biology & Development from the University of Minnesota - Twin Cities in 2015. Her research interests are focused on gaining a better understanding of rare genetic diseases and improving treatment options for difficult-to-treat disorders. Kacey joined the NHLBI under the mentorship of Dr. Andre Larochelle in September 2016 and will be starting an MD/PhD program in summer 2018.

 

Ramon Jauregui, NEI

Title: ABCA4 Retinopathy Natural History Study: Flecks on Wide-Field Fundus Autofluorescence Imaging

Summary: Stargardt disease is an inherited retinal dystrophy, most often attributed to mutations in the ABCA4 gene. Retinal flecks, a hallmark of the disease are poorly understood as is fleck progression and its relationship to vision loss. To further understand fleck progression, we analyzed Optos fundus autofluorescence images in patients enrolled in the Natural History of ABCA4-Related Retinopathies study at the National Eye Institute. An interactive machine learning software was utilized to identify flecks and subsequently, ImageJ was used to calculate the spatial progression over time. There appears to be no fleck progression phenotype to which all the patients conform. Our experience is such that some patients demonstrate an overall increase in fleck burden over a three-year period.

Bio: Ramon Jauregui graduated from Pitzer College in 2015 receiving a B.A. in Biochemistry. Through an NIH extramural fellowship he joined the Lai lab in the Bio Engineering Department at the University of Washington where he worked on diagnostic research till June 2016. He then joined the Brooks laboratory at the NEI as an NIH Academy Enrichment Program fellow where he works on imaging analysis with the goal of developing outcome measures for Stargardt disease under the mentorship of Dr. Laryssa Huryn.

 

Lauren Wedekind, NIDDK

Title: GWAS of Southwestern Native Americans Identifies a Novel Association for TNF-alpha Levels in the WWOX Gene

Summary: Inflammatory processes may contribute to type 2 diabetes, but there is limited information about genetic associations with levels of inflammatory cytokines. We performed a genome-wide association study (GWAS) of cytokines in 1061 non-diabetic Southwestern Native Americans (500 women; 561 men). An association at genome-wide statistical significance was observed with TNFα levels on chromosome 16 near WWOX (rs1862840; p=1.2×10-8). Each copy of the G allele (frequency=0.12) confers a 0.41-SD increase in TNFα levels.

Bio: Lauren conducts statistical genetics research into metabolic traits at the NIDDK Phoenix Epidemiology and Clinical Research Branch. She aims to contribute to understandings and frameworks for precision medicine to prevent and treat cardiometabolic diseases across diverse populations.