Human and Mammalian Genetics and Genomics: The 64th McKusick Short Course

Monday, July 17th

8:00 – 9:30 AM

General Registration

9:30 - 9:45 AM

Course Announcements & General Housekeeping

9:45 – 10:00 AM

Welcome & Opening Remarks 

Lon Cardon, Ph.D., FMedSci, The Jackson Laboratory

10:00 – 11:00 AM

History of Human Genetics 

David Valle, M.D., Johns Hopkins University School of Medicine 

11:00 AM – 12:00 PM

Mice as Models for Human Diseases 

Greg Cox, Ph.D., The Jackson Laboratory 

1:30 – 2:30 PM

Opportunities and Limits in the 21^st Century Mouse Model System 

Steven Munger, Ph.D., The Jackson Laboratory  

2:30 – 3:30 PM

Genetic Recombination & Mutation  

Beth Dumont, Ph.D., The Jackson Laboratory  

3:45 – 4:45 PM

Nuclear Genome Organization: Chromosome Structure and Regulation 

Jeanne Lawrence, Ph.D., University of Massachusetts Medical School 

4:45 - 5:00 PM

Introduction & Welcome - Thomas H. Roderick Memorial Lecture

5:00 – 6:30 PM

Thomas H. Roderick Lecture – The Jackson Laboratory Auditorium   

Gene Regulation, Selection, and the Genetic Architecture of Complex Traits 

Jonathan Pritchard, Ph.D., Stanford University 

7:00 PM

Thomas H. Roderick Memorial Lecture Reception and Dinner  

Tuesday, July 18th

8:00 – 9:00 AM

The Utility of Gapless Genome Assemblies in Understanding Biology 

Rachel O’Neill, Ph.D., Institute for Systems Genomics, University of Connecticut  

9:00 – 10:00 AM

Transcriptional Regulation of Gene Expression 

Andrew McCallion, Ph.D., Johns Hopkins University School of Medicine 

10:30 – 11:30 AM

Single Cell Analysis in Development and Disease 

Loyal Goff, Ph.D., Johns Hopkins University School of Medicine 

11:30 AM – 12:30 PM

A Decade of Technology-Drive Insights Into the 3D Genome's Structure-Function Relationship 

Jennifer Phillips-Cremins, Ph.D., University of Pennsylvania  

 2:00 – 2:30 PM

WORKSHOP: Intro to MGI  
Richard Baldarelli, Ph.D., The Jackson Laboratory 

2:30 – 3:00 PM

WORKSHOP: Intro to OMIM 
Ada Hamosh, M.D., Johns Hopkins University 

3:00 – 4:30 PM

WORKSHOP: All of US 
Geoff Ginsburg, M.D., Ph.D., National Institutes of Health 

Genevieve Brandt, M.S, Broad Institute of MIT & Harvard* 

*Presenting Remotely  

7:00 – 8:30 PM

Nature and Consequences of Genomic Variants – College of the Atlantic, College of Human Ecology (CHE) Building

Stylianos Antonarakis, M.D., DSc, University of Geneva Medical School 

Wednesday, July 19th

8:00 – 9:00 AM

Advancing Genomic Technologies for Insights into Genome Organization and Transcription 

Chia Lin Wei, Ph.D., The Jackson Laboratory for Genomic Medicine

9:00 – 10:00 AM

gnomAD: Human Genome Variation & its Properties 

Anne O’Donnell-Luria, M.D., Ph.D., Broad Institute of MIT & Harvard 

10:30 – 11:30 AM

TBD 

Steven Scherer, Ph.D., University of Toronto 

11:30 AM – 12:30 PM

Inborn Errors of the Epigenetic Apparatus: Genetics of Chromatin Readers & Writers 

Hans Bjornsson, M.D., Ph.D., Johns Hopkins University School of Medicine, University of Iceland 

2:00 – 4:00 PM

WORKSHOP: The UCSC Genome Browser - Gateway to Genomic Data 

Robert Kuhn, Ph.D., University of California Santa Cruz- retired 

7:00 – 8:30 PM

Senior Lecturer – College of the Atlantic, CHE Building 

Medicine, a Subspecialty of Genetics 

Peter Byers, M.D., UW Medicine  

Thursday, July 20th

8:00 – 9:00 AM

Machine Learning for Regulatory Genomics: Basics and Pitfalls 

Michael Beer, Ph.D., Johns Hopkins University 

9:00 – 10:00 AM

Probing Molecular Phenotypes with Quantitative Proteomics 

Devin Schweppe, Ph.D., University of Washington  

10:30 – 11:30 AM

TBD 

Gary Churchill, Ph.D., The Jackson Laboratory 

11:30 AM – 12:30 PM

Model Organism Genetics and Human Disease: Models and Mechanisms to Therapies 

Phil Hieter, Ph.D., University of British Columbia  

2:00 – 4:00 PM

WORKSHOP: RNA Sequencing 

Steven Munger, Ph.D., The Jackson Laboratory 

4:00 – 5:30 PM

Poster Session 

7:00 – 8:30 PM

Genetics and Genomics of Oxygen Homeostasis – College of the Atlantic, CHE Building

Gregg Semenza, M.D., Ph.D., Johns Hopkins University 

Friday July 21st

8:00 – 9:00 AM

Systems Biology of the Cell 

Aravinda Chakravarti, Ph.D., NYU Langone Health 

9:00 – 10:00 AM

Inherited Susceptibility to Cancer 

William Foulkes, Ph.D., McGill University 

10:30 – 11:30 AM

Using the Full Potential of Whole-Genome Sequencing in Cancer Genomics 

Serena Nik-Zainal, Ph.D., University of Cambridge 

*Presenting Remotely 

11:30 AM – 12:30 PM

Cancer Biology Exposed Through Large-Scale Sequencing 
Victor Velculescu, M.D., Ph.D., Johns Hopkins University School of Medicine  

2:00 – 4:00 PM

WORKSHOP: ClinGen, ClinVar and other Genomic Curation Databases 

Heidi Rehm, Ph.D., Massachusetts General Hospital & The Broad Institute 

4:15 – 5:45 PM

Chen K. Chai Memorial Lecture – The Jackson Laboratory Auditorium 

Tech Policy for Geneticists

Alondra Nelson, Ph.D., Institute for Advanced Study 

Monday, July 24th

8:00 – 9:00 AM

Genetic and Genomic Analysis of Complex Traits and Diseases 

Benjamin Neale, Ph.D., The Broad Institute and Massachusetts General Hospital 

9:00 – 10:00 AM

Human Evolution and Adaptation in Africa 

Sarah Tishkoff, Ph.D., University of Pennsylvania, Perelman School of Medicine 

10:30 – 11:30 AM

Harnessing our Common African Genome to Improve Health Globally 

Ambroise Wonkam, M.D., Ph.D., Johns Hopkins University 

11:30 AM – 12:00 PM 

Post-traumatic Transgenerational Epigenetic Changes in Rwanda  

Leon Mutesa, M.D., Ph.D., University of Rwanda 

12:00 – 12:30 PM

Complex Diseases Gene Mapping and Risk Prediction for African Populations 
Segun Fatumo, Ph.D., London School of Hygiene and Tropical Medicine 

2:00 – 4:00 PM

WORKSHOP: WES/WGS Analysis 

Nara Sobreira, M.D., Ph.D., Johns Hopkins University 

7:00 – 8:30 PM

Victor A. McKusick Memorial Lecture – College of the Atlantic, CHE Building 
Title TBD 

Eric Olson, Ph.D., UT Southwestern Medical Center 

Tuesday, July 25th

8:00 – 9:00 AM

Genetics of Infectious Diseases 

Steven Holland, M.D., National Institute of Allergy & Infectious Diseases, NIH 

9:00 – 10:00 AM

Genomics Characterization and Surveillance of Microbial Threats in West Africa 

Christian Happi, Ph.D., Redeemer’s University

10:30 – 11:30 AM

Inherited Defects of Adaptive Immunity: Advances in Diagnosis and Treatment 

Jennifer Puck, Ph.D., University of California San Francisco  

*Presenting Remotely

11:30 AM – 12:30 PM

The Human Genetic and Immunological Determinants of Life-Threatening COVID-19 

Jean-Laurent Casanova, M.D, Ph.D., The Rockefeller University 

*Presenting Remotely 

12:30 – 2:00 PM

Trainee Lunch 

Alice Matimba on International Outreach  

2:00 – 4:00 PM

WORKSHOP: Mouse Genomics informatics 

Carol Bult, Ph.D., The Jackson Laboratory

 7:00 – 8:30 PM

Engineering T cells in vivo with mRNA – College of the Atlantic, CHE Building

Jonathan Epstein, M.D., University of Pennsylvania 

Wednesday, July 26th

8:00 – 9:00 AM

Prenatal Screening Diagnosis & Therapy 

Ignatia Van den Veyver, M.D., Baylor College of Medicine 

9:00 – 10:00 AM

MyCode: Enabling Genomic Discoveries and Moving Genomics into Everyday Care 

Juliann Savatt, M.S., C.G.C., Geisinger 

10:30 – 11:30 AM

Ethics and Policy Issues Raised by Genetics and Genomics

Debra Mathews, Ph.D., MA, Johns Hopkins University 

11:30 AM – 12:30 PM

GENOMICS FOR EVERYONE? AN INDIGENOUS PERSPECTIVE 

Krystal Tsosie, Ph.D., Arizona State University  

2:00 – 3:00 PM

Human Genetics Clinic 

3:00 – 4:00 PM

Human Genetics Clinic Presentations 

7:00 – 8:30 PM

Panel: Using Population Descriptors in Genetics & Genomics Research – College of the Atlantic, Gates Auditorium 

Aravinda Chakravarti, Ph.D., NYU Langone Health  

Debra Mathews, Ph.D., MA, Johns Hopkins University 

Sarah Tishkoff, Ph.D., University of Pennsylvania, Perelman School of Medicine 

Thursday, July 27th

8:00 – 9:00 AM

Inborn Errors of Metabolism: A Primer 

Hilary Vernon, M.D., Ph.D., Johns Hopkins University 

9:00 – 10:00 AM

Metabolomics and Human Diseases 

Ralph DeBerardinis, M.D., Ph.D., University of Texas, Southwestern 

10:30 – 11:30 AM

Pharmacogenomics to Pharmaco-omics, AI and ML 

Richard Weinshilboum, M.D., Mayo Clinic 

11:30 AM – 12:30 PM

Integrating Molecular Genetics Testing into Mainstream Medicine: View from a Commercial Laboratory 
Robert Nussbaum, M.D., Invitae 
*Presenting Remotely  

12:30 - 1:00 PM

The Jackson Laboratory Rare Disease Translation Center

Cat Lutz, Ph.D., M.B.A., The Jackson Laboratory 

1:00 – 3:00 PM

Skippy Lane Memorial Mouse Clinic 

Greg Cox, Ph.D., The Jackson Laboratory 

7:00 – 8:30 PM

ELSI Case Studies – College of the Atlantic, Gates Auditorium

John A. Phillips, III., M.D., Vanderbilt University School of Medicine 

Ada Hamosh, M.D., Johns Hopkins University School of Medicine

Debra Mathews, Ph.D., MA, Johns Hopkins University 

Friday, July 28th

8:00 – 9:00 AM

Gene Therapy Approaches to Hemoglobinopathies 

Stuart Orkin, M.D., Harvard Medical School 

9:00 – 10:00 AM

Early Forays in Individualized Genetic Medicine 

Timothy Yu, M.D., Ph.D., Harvard Medical School & Boston Children’s Hospital 

 10:30 – 11:30 AM

Precision Genome Editing Tools to Address Genetic Disease 

Greg Newby, Ph.D., Broad Institute of MIT & Harvard 

11:30 AM – 12:30 PM

Genetic & Pharmacologic Modifiers of Cystic Fibrosis 

Garry Cutting, M.D., Johns Hopkins University 

2:30 – 3:30 PM

Insights into the Pathogenesis and Treatment of Vascular Connective Tissue Disorders

Harry ‘Hal’ Dietz, M.D., Johns Hopkins University 

3:30 – 4:30 PM

Course Summary and Wrap-Up