Spring 2016 Seminars

February 8th, 2016

Andrea K. Townsend, Ph. D., Assistant Professor of Biology, Hamilton College, Clinton, New York.

How do features of human-dominated landscapes affect disease prevalence and survival probability of corvids?

Currently, I am examining how urbanization is altering (and, perhaps, elevating) inbreeding depression in two urban-commensal species: the American Crow and the Yellow-billed Magpie. In collaboration with Walter Boyce (UC Davis School of Veterinary Medicine; Wildlife Health Center), Sarah Wheeler, and Bill Reisen (both from the UC Davis Center for Vectorborne Diseases), and others, we are looking at how the nature and prevalence of disease varies across and urban to rural/ agricultural gradient.

February 22nd, 2016

Hector Barajas-Martinez, Ph.D., Research Scientist and Clinical Laboratory Director, Masonic Medical Research Laboratory, Utica, New York.

New Generation in Molecular Genetic Screening in Inherited Cardiac Arrhythmias Linked with Functional/Structural Genes Associated to Sudden Infant Death Syndromes

Dr. Barajas-Martinez is working to establish long term collaboration between Latinos countries (such as; Mexico, Spain, Argentine, Brazil, Chile, etc.) in our Molecular Genetics Department at the Masonic Medical Research Laboratory (MMRL) in Utica, New York USA and the Hospital Infantil De Mexico Federico Gomez, Ciudad De Mexico, Mexico. (Children Hospital of Mexico) to provide genetic testing services in U.S.A., taking advantage of the complementarities and synergies among them to save lives and give a better diagnosis, prevention and/or cures. We envision an international bilateral collaboration in 2 dimensions: State of the Art in the New Generation Molecular and Clinical genetic screening, plus scientific and academic collaboration. Our wonderful and intelligent molecular genetics team is formed by Research Scientists; Drs. Hector Barajas-Martinez (Clinical Laboratory Director) and Dan Hu (Clinical Laboratory Consultant) both principal investigators experts in molecular and genomics in cardiology arena and Fellows from Heart Rhythm Society, Research Assistants; Ryan Pfeiffer (Molecular Genetics Supervisor), and Yuesheng Wu working together with the new generation of genetic screening techniques, and Susan Bartkowiak as a Quality Systems Manager. We are working and looking for funds, revenues and grants between Mexico-USA (and others Latino countries) to keep doing this innovative Next Generation genetic sequencing approach to identify “Genetic Markers in Sudden Infant Death Syndromes’. This high throughput sequencing (HTS) approach will give us the capability to target and sequence functional and structural candidate genes to include all spectrum of congenital and structural cardiomyopathies.

March 7th, 2016

Jesse Crandall, Ph.D., Visiting Assistant Professor of Chemistry, Utica College, Utica, New York.

Sun and Symbionts: Translocation in Caribbean Corals

Coral reefs are in decline because of pollution, over fishing, disease, and climate change. The relationship between corals and their symbionts forms the base of tropical reef ecosystems that provide habitat to marine life, protect shorelines from damaging storms, provide food to people, and attract tourists to tropical locales. Coral symbionts, Symbiodinium spp., provide photosynthetic nutrients to the coral host animal by translocation. The coral animal also feeds on particles that it captures from the water column. I used a variety of chemical and biochemical techniques to investigate the balance of nutrient acquisition between translocation and feeding. I used stable isotope techniques, analysis of biomarker lipids, and developed metabolomics methods to better describe the nutrient acquisition strategies of hard and soft corals in the Caribbean. Coral symbiosis is critical to marine ecosystems and I targeted abundant coral species for analysis to improve understanding of nutrient acquisition in these species that will be important to healthy, productive reefs in the future.

March 28th, 2016

Andrea S. Viczian Ph.D., Assistant Professor of: Ophthalmology, Biochemistry and Molecular Biology, Cell and Developmental Biology, Neuroscience and Physiology, SUNY Upstate Medical University, Syracuse, New York.

What the frog can teach us about making eyes

The eye is a complex organ with the unique ability to transform light into an electrical signal detected by our brain as sight. The cells at the heart of this transformation are called photoreceptors. What are the proteins that direct pluripotent cells, like stem cells, toward photoreceptors? How are these genes controlled? We use the simple frog eye as a model to understand how genes direct eye formation and generate fully functional eyes. I will also talk about how our work on the frog eye has revealed a unique way to efficiently generate photoreceptor cells.

April 11th, 2016

Alex Rohacek, Ph. D. Candidate at Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.

Mutations in Esrp1 lead to defects in inner ear development associated with congenital hearing loss

Hearing loss is the most common congenital birth defect affecting an estimated 35 million children worldwide. To date, nearly 100 genes have been identified that, when mutated, may cause deafness in humans. However, many cases remain in which the causative mutation has not been found. In an effort to discover novel deafness causing loci we sequenced the coding genome (exome) of families with profound hearing loss. These studies uncovered mutations in Epithelial Splicing Regulatory Protein 1 (ESRP1), a critical regulator of alternative mRNA splicing. To investigate how the loss of ESRP1 function results in deafness we characterized a mouse knockout model for Esrp1. Esrp1 mutants display morphological defects in several inner ear structures, including the cochlear duct, which is both shortened and widened compared to control littermates. To gain additional insights to the mutant phenotype we compared the cochlear mRNA expression profiles between control and Esrp1-/- mutants by RNA-seq analysis. We observed a significant downregulation in the expression of genes associated with auditory hair cell development, the sound sensing cells within the cochlea. Upon further investigation, we noticed a significant delay in the timing of hair cell differentiation in Esrp1 mutants, resulting in fewer and less mature hair cells. Our RNA-seq dataset also revealed a profound reduction in mRNA transcripts expressed in the stria vascularis (SV) of Esrp1 mutants. The SV is a nonsensory structure of the cochlea responsible for generating the large endocochlear potential needed for hair cell mechanotransduction. The disruption of the SV in Esrp1 mutants manifests from a cell fate switch with the adjacent Reissner’s membrane, likely due to aberrant splicing of the Fibroblast growth factor receptor 2 (Fgfr2) gene. Together these results show that Esrp1 is a critical regulator of inner ear development and that ESRP1 mutations are a novel cause of deafness in humans.