{"622265":{"#nid":"622265","#data":{"type":"event","title":"PhD Defense by Zachary McEachin","body":[{"value":"\u003Cp\u003E\u003Cstrong\u003EZachary McEachin\u003C\/strong\u003E\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003EBME PhD Defense Presentation\u003C\/strong\u003E\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003EDate:\u003C\/strong\u003E June 19\u003Csup\u003Eth\u003C\/sup\u003E, 2019\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003ETime:\u003C\/strong\u003E 10:00 a.m.\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003ELocation:\u003C\/strong\u003E \u0026nbsp;Whitehead Memorial Research Building, Room 400 (Emory)\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003ECommittee members:\u003C\/strong\u003E\u003C\/p\u003E\r\n\r\n\u003Cp\u003EGary J Bassell, PhD (Emory Cell Biology) (Advisor)\u003C\/p\u003E\r\n\r\n\u003Cp\u003EJonathan Glass, MD (Emory Neurology)\u003C\/p\u003E\r\n\r\n\u003Cp\u003ENicholas Hud, PhD (GaTech Chemistry)\u003C\/p\u003E\r\n\r\n\u003Cp\u003EPhilip Santangelo, PhD (GaTech BME)\u003C\/p\u003E\r\n\r\n\u003Cp\u003EThomas Kukar, PhD (Emory Pharmacology)\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003ETitle: \u003C\/strong\u003EShared and unique disease mechanisms in hexanucleotide repeat expansion disorders\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u003Cstrong\u003EAbstract:\u0026nbsp; \u003C\/strong\u003EPathological repeat expansions of short, genomic repeat sequences have been implicated in over 40 neurodevelopmental, neurodegenerative, or neuromuscular disorders.\u0026nbsp; Although the pathomechanisms associated with microsatellite repeat expansions are unclear, possible disease mechanisms that have been investigated include haploinsufficiency, toxic gain of function of the nucleotide repeats, and\/or protein toxicity due to repeat associated non-ATG (RAN) translation.\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003EIn 2011, two highly related hexanucleotide repeat expansions (HRE) were discovered as the causes of two different diseases \u0026ndash; an intronic G\u003Csub\u003E4\u003C\/sub\u003EC\u003Csub\u003E2\u003C\/sub\u003E HRE in the C9ORF72 gene locus represents the most prevalent genetic cause of Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD), referred to as c9FTD\/ALS, and a TG\u003Csub\u003E3\u003C\/sub\u003EC\u003Csub\u003E2\u003C\/sub\u003E HRE in the first intron of NOP56 gene was independently identified as the genetic cause for a clinically disparate disease, Spinocerebellar Ataxia type 36 (SCA36).\u0026nbsp; The overall aim of this proposal is to elucidate the molecular mechanisms by which hexanucleotide repeat expansions result in neurodegenerative disease, and to identify which mechanisms are responsible for the disease-specific pattern of neuronal degeneration and loss in these disorders. \u0026nbsp;Aim (1) will determine whether these intronic hexanucleotide repeats are unconventionally translated into dipeptide repeats, Aim (2) will identify and compare disease specific RNA-protein interactions, and lastly Aim (3) will use next generation sequencing to elucidate shared and distinct dysregulated pathways in these two disorders.\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\r\n\r\n\u003Cp\u003EWe hypothesize that a comprehensive and comparative analysis using c9FTD\/ALS and SCA36 patient samples will provide us with a unique opportunity to gain a thorough understanding of the common and disease-specific pathomechanisms of these devastating disorders, for which there are presently no available cures or effective treatments.\u003C\/p\u003E\r\n\r\n\u003Cp\u003E\u0026nbsp;\u003C\/p\u003E\r\n","summary":null,"format":"limited_html"}],"field_subtitle":"","field_summary":"","field_summary_sentence":[{"value":"Shared and unique disease mechanisms in hexanucleotide repeat expansion disorders"}],"uid":"27707","created_gmt":"2019-06-05 19:21:57","changed_gmt":"2019-06-05 19:21:57","author":"Tatianna Richardson","boilerplate_text":"","field_publication":"","field_article_url":"","field_event_time":{"event_time_start":"2019-06-19T11:00:00-04:00","event_time_end":"2019-06-19T13:00:00-04:00","event_time_end_last":"2019-06-19T13:00:00-04:00","gmt_time_start":"2019-06-19 15:00:00","gmt_time_end":"2019-06-19 17:00:00","gmt_time_end_last":"2019-06-19 17:00:00","rrule":null,"timezone":"America\/New_York"},"extras":[],"groups":[{"id":"221981","name":"Graduate Studies"}],"categories":[],"keywords":[{"id":"100811","name":"Phd Defense"}],"core_research_areas":[],"news_room_topics":[],"event_categories":[{"id":"1788","name":"Other\/Miscellaneous"}],"invited_audience":[{"id":"78761","name":"Faculty\/Staff"},{"id":"78771","name":"Public"},{"id":"174045","name":"Graduate students"},{"id":"78751","name":"Undergraduate students"}],"affiliations":[],"classification":[],"areas_of_expertise":[],"news_and_recent_appearances":[],"phone":[],"contact":[],"email":[],"slides":[],"orientation":[],"userdata":""}}}