Gordon Research Conferences
Meeting Details

Human Genetics and Genomics (GRS)
Gordon Research Seminar

Novel Approaches to Unraveling the Human Genome


July 8-9, 2017


Stoweflake Conference Center
Stowe, VT


Sali M.K. Farhan & Harrison Brand

Meeting Description

The Gordon Research Seminar on Human Genetics and Genomics is a unique forum for graduate students, post-docs, and other scientists with comparable levels of experience and education to present and exchange new data and cutting edge ideas.

The focus of this meeting is "Novel Approaches to Unraveling the Human Genome". We will discuss new methods to identify and alter the composition or expression of genes, the application of model organisms in human genetics, and how these approaches can identify druggable targets.

Related Meeting

This GRS was held in conjunction with the "Human Genetics and Genomics" Gordon Research Conference (GRC). Refer to the associated GRC program page for more information.


Meeting Program

2:00 pm - 5:00 pmArrival and Check-in
3:30 pm - 3:45 pmIntroductory Comments by GRC Site Staff / Welcome by the GRS Conference Chair
3:45 pm - 4:30 pmKeynote Session: The Application of Human Genetics in Disease Models
Discussion Leader: Ryan Collins (Talkowski Laboratory, Massachusetts General Hospital Center for Genomic Medicine, USA)
3:45 pm - 4:15 pmRon Do (Icahn School of Medicine at Mount Sinai, USA)
"The Hidden Nature of Recessive Selection: Detection from Human Population Data and Implications for Disease Models in Distant Organisms"
4:15 pm - 4:30 pmDiscussion
4:30 pm - 6:00 pmPoster Session
6:00 pmDinner
7:30 pm - 9:30 pmStrategic Approaches in Assessing Genomic Variation
Discussion Leaders: Fah Sathirapongsasuti (23andMe, USA) and Daniel Jordan (Icahn School of Medicine at Mount Sinai, USA)
7:30 pm - 7:45 pmDawei Li (University of Vermont, USA)
"Identify Novel Oncovirus in Human Cancers Using Whole-Genome Sequencing"
7:45 pm - 7:50 pmDiscussion
7:50 pm - 8:05 pmAlicia Martin (Massachusetts General Hospital, USA)
"Demographic History Impacts Polygenic Risk Across Diverse Populations"
8:05 pm - 8:10 pmDiscussion
8:10 pm - 8:25 pmKarl Heilbron (23andMe, USA)
"Traits Associated with Parkinson's Disease in a Large and Deeply Phenotyped Cohort"
8:25 pm - 8:30 pmDiscussion
8:30 pm - 8:45 pmLesley Chapman (National Institute of Standards and Technology, USA)
"Machine Learning Strategies to Identify High Confidence Structural Variants in Human Genome Reference Materials"
8:45 pm - 8:50 pmDiscussion
8:50 pm - 9:05 pmAlicia Byrne (University of South Australia, Australia)
"The Genomic Autopsy: Using Whole Exome and Whole Genome Sequencing to Solve Complex Fetal and Neonatal Presentations"
9:05 pm - 9:10 pmDiscussion
9:10 pm - 9:25 pmJason Torres (Wellcome Trust Centre for Human Genetics, United Kingdom)
"Physical Interaction in Human Beta-Cells Between Islet eQTL Sites and Target Gene Promoters at Loci Associated with Type 2 Diabetes Risk and Glycemic Traits"
9:25 pm - 9:30 pmDiscussion
7:30 am - 8:30 amBreakfast
9:00 am - 11:00 amUnraveling the Transcriptome, Proteome, and Metabolome Through Functional Genomics and Model Organisms
Discussion Leader: Xenia Latypova (Duke University, USA)
9:00 am - 9:15 amSarah Kim-Hellmuth (New York Genome Center, USA)
"Genetic Regulatory Effects Modified by Immune Activation Contribute to Autoimmune Disease Associations"
9:15 am - 9:20 amDiscussion
9:20 am - 9:35 amAnand Narayanan (Yale University School of Medicine, USA)
"Characterization of Novel Functions of DYRK1B in Myogenic Specification, Differentiation and Muscular Dystrophies"
9:35 am - 9:40 amDiscussion
9:40 am - 9:55 amNinad Oak (Baylor College of Medicine, USA)
"Annotative Database of miRNA Elements, ADmiRE, Identifies the Landscape of Human miRNA Variation from the Genome Aggregation Dataset, gnomAD"
9:55 am - 10:00 amDiscussion
10:00 am - 10:15 amSoren Thomsen (University of Oxford, United Kingdom)
"High-Throughput Screening Identifies the Type 2 Diabetes Risk Gene ZMIZ1 as a Key Regulator of Pancreatic Beta-Cell Function"
10:15 am - 10:20 amDiscussion
10:20 am - 10:35 amMuthukumar Ramanathan (Stanford University, USA)
"Facile and Fast Tool to Study Impact of Sequence Variation on RNA-Protein Interactions"
10:35 am - 10:40 amDiscussion
10:40 am - 10:55 amKamal Khan (Center for Human Disease Modeling, Duke University, USA)
"Mutations in the Condensin II Component NCAPG2 Cause Autosomal Recessive Neurodevelopmental Syndrome"
10:55 am - 11:00 amDiscussion
11:00 am - 12:30 pmPoster Session

Coffee will be served in the poster area from 11:00 am - 11:30 am
12:30 pmLunch
1:30 pm - 2:30 pmMentorship Component: Philosophy of Science: From Scientific Methods to Communication and Mentoring the Next Generation of Scientists
Discussion Leaders: Genevieve Andersen (University of Colorado Anschutz Medical Campus, USA) and Sahar Mozaffari (University of Chicago, USA)
1:30 pm - 1:55 pmBrooke Laflamme (Springer Nature, USA)
"Editorial Decision Making in High-Impact Science"
1:55 pm - 2:00 pmDiscussion
2:00 pm - 2:30 pmPanel Discussion
"Career Planning in Science"
  • Ron Do (Icahn School of Medicine at Mount Sinai, USA)
  • Brooke Laflamme (Springer Nature, USA)
  • Anne O'Donnell Luria (Boston Children's Hospital, USA)
  • Fah Sathirapongsasuti (23andMe, USA)
2:30 pm - 3:00 pmEvaluation Period
Fill in GRS Evaluation Forms
3:00 pmSeminar Concludes
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