Human and Mammalian Genetics and Genomics: The 62nd McKusick Short Course - Virtual Event

Intro Content

Pre-Recorded Content
The following pre-recorded, introductory lectures will be available on the canvas site two weeks prior to the course. These are intended to be supplementary primers or refreshers, however, we heavily encourage you to watch these prior to the course.

Course Welcome (10 min)
Edison Liu, M.D., The Jackson Laboratory

An Introduction to Mouse Genome Informatics (30 min)
David Shaw, M.S., The Jackson Laboratory

Intro to OMIM (30 min)
Ada Hamosh, M.D., Johns Hopkins University School of Medicine 

Molecular Genetics (1 hr)
John A Phillips III., M.D., Vanderbilt University School of Medicine 

Epigenetics (1 hr)
Hans Bjornsson, M.D., Ph.D., Johns Hopkins University School of Medicine, University of Iceland

Basic Mendelian Genetics (1 hr)
Carolyn Applegate, MGC, CGC, Johns Hopkins University Institute of Genetic Medicine

Monday July 19

Day 1: Monday, July 19th
History of Mammalian Genetics and the Evolution of Concepts

10:00 am EDT
History of Human Genetics
David Valle, M.D., Johns Hopkins University School of Medicine

10:50 am EDT
Mice as Models for Human Diseases
Greg Cox, Ph.D., The Jackson Laboratory

11:40 am EDT
Opportunities and Limits in the 21st Century Mouse Model System
Steve Munger, Ph.D., The Jackson Laboratory

12:30 pm EDT
Lunch Break

1:00 pm EDT
Genetic Recombination & Mutation
Beth Dumont, Ph.D., The Jackson Laboratory

1:50 pm EDT
Chromosome Structure & Regulation
Jeanne Lawrence, Ph.D., The Jackson Laboratory

2:40 pm EDT 
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
David Valle, Greg Cox, Steve Munger, Beth Dumont & Jeanne Lawrence

4:00 - 5:30 pm EDT
Thomas H. Roderick Memorial Lecture
Mapping the Human Gastrointestinal Tract Through Space and Time"
Sarah Teichmann, F.Med.Sci, FRS, Wellcome Sanger Institute

Tuesday July 20

Day 2: Tuesday, July 20
DNA & its Variation

8:30 am EDT
WORKSHOP: UCSC Genome Browser
Robert Kuhn, Ph.D., University of California Santa Cruz

10:00 am EDT
gnomAD: Human Genome Variation & its Properties
Anne O'Donnell-Luria, M.D., Ph.D., Broad Institute of MIT & Harvard

10:50 am EDT
Human Structural Variation
Charles Lee, Ph.D., The Jackson Laboratory for Genomic Medicine

11:40 am EDT
Telomere-to-Telomere Chromosome Assemblies: New Insights into Genome Biology and Structure
Karen Miga, Ph.D., University of California, Santa Cruz

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT
The ENCODE Project in 2021
John Stamatoyannopoulos, M.D., Altius Institute for Biomedical Sciences and Dept. of Genome Sciences University of Washington

1:50 pm EDT
Organizing Principles of the 3D Epigenome
Jennifer Phillips-Cremins, Ph.D., University of Pennsylvania 

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A 
Anne O'Donnell-Luria, Charles Lee, Karen Miga, John Stamatoyannopoulos & Jennifer Phillips-Cremins

4:00 - 5:30 pm EDT
Nature and Consequences of Human Genome Variants
Stylianos Antonarakis, M.D., DSc, University of Geneva Medical School

Wednesday, July 21

Day 3: Wednesday, July 21
Gene Expression & Regulation

8:30 am EDT
WORKSHOP: WES/WGS
Nara Sobreira, M.D., Ph.D., Johns Hopkins University

10:00 am EDT
Transcriptional Regulation of Gene Expression
Andrew McCallion, Ph.D., Johns Hopkins University School of Medicine

10:50 am EDT
Single Cell Analysis in Development and Disease
Loyal Goff, Ph.D., Johns Hopkins University School of Medicine

11:40 am EDT
Inborn Errors of the Epigenetic Apparatus: Chromatin Readers & Writers
Hans Bjornsson, M.D., Ph.D., Johns Hopkins University School of Medicine, University of Iceland

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT
Colliding Ribosomes at the Heart of Cellular Signaling Pathways
Rachel Green, Ph.D., Johns Hopkins University School of Medicine

1:50 pm EDT
Mapping Dynamic Proteomes
Devin Schweppe, Ph.D., University of Washington

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
Andrew McCallion, Loyal Goff, Hans Bjornsson, Rachel Green & Devin Schweppe

4:00 - 5:30 pm EDT
Victor A. McKusick Memorial Lecture
Genetics of Neuropsychiatric Disorders: Lessons from Rett Syndrome and Other MECP2 Disorders
Huda Zoghbi, M.D., Baylor College of Medicine; Howard Hughes Medical Institute, Texas Children’s Hospital Jan and Dan Duncan Neurological Research Institute

Thursday, July 22

Day 4: Thursday, July 22
Population Genetics & Genetic Architecture 

8:30 am EDT
WORKSHOP: Standardizing Phenotyping Human, Mouse & Cross-Species Comparison
Peter Robinson, M.D., M.S., The Jackson Laboratory

10:00 am EDT
Systems Biology of the Cell
Aravinda Chakravarti, Ph.D., NYU Langone Health

10:50 am EDT
Population Genetics & Genomics
Guy Sella, Ph.D., Columbia University 

11:40 am EDT
Genome Analysis of Diverse Populations
Neil Hanchard, M.D., Ph.D., National Human Genome Research Institute [NHGRI]

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT
Genetic Dissection of Complex Traits in Mice
Gary Churchill, Ph.D., The Jackson Laboratory

1:50 pm EDT
Machine Learning for Regulatory Genomics: Basics and Pitfalls
Michael Beer, Ph.D., Johns Hopkins University

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
Aravinda Chakravarti, Guy Sella, Neil Hanchard, Michael Beer & Gary Churchill

4:00 - 5:30 pm EDT
Genetics and Genomics of Oxygen Homeostasis
Gregg Semenza, M.D., Ph.D., Johns Hopkins University

Friday, July 23

Day 5: Friday, July 23
Human Evolution & its Principles

8:30 am EDT 
African Genetics
Sarah Tishkoff, Ph.D., University of Pennsylvania

9:30 am EDT
African Genetics Panel
Features six short talks, followed by a panel discussion on overlapping themes

African Genomic Variations: The Next Frontier of Global Genetic Medicine
Ambroise Wonkam, Ph.D., University of Cape Town

Opportunity for Rare Disease Research in Africa
Guida Laundoure, M.D., Ph.D., USTTB

Genomic Characterization and Surveillance of Microbial Threats in West Africa
Christian Happi, Ph.D., ACEGID & Redeemer's University

Overview of Novel Gene Discoveries in Africa
Sonia Abdelhak, Ph.D., Institut Pasteur de Tunis

Epigenetics & African Genomics
Neil Hanchard, M.D., Ph.D., National Human Genome Research Institute [NHGRI]

Addressing Equity in Genomic Research in Africa
Charmaine Royal, Ph.D., Duke University

11:30 am EDT
Lunch Break (1 hr 30 min)

1:00 pm EDT
Ancient DNA & Human Evolution
David Reich, Ph.D., Harvard Medical Institute

1:50 pm EDT
Global Human Diversity
Graham Coop, Ph.D., University of California, Davis

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
David Reich, Sarah Tishkoff & Graham Coop

4:00 - 5:30 pm EDT
Chen K. Chai Lecture
Moving from Hammer to Nail: Genomics and Health Outcomes in 2021
Katrina Armstrong, M.D., Massachusetts General Hospital

Weekend Pre-Recorded Content

Weekend Pre-Recorded Content (4.5 hours)
The following pre-recorded lectures will be available on the Canvas site upon login. They are intended to be watched on Saturday, July 24 or before Monday, July 26.

Treatment of Genetic Disease (1 hr)
David Valle, M.D., Johns Hopkins University School of Medicine

Sequencing for Deciphering Mendelian Disease (1 hr)
Gilad Evrony, M.D., Ph.D., NYU Langone Health

Organoids to Model Human Disease (1 hr)
Hans Clevers, M.D., Ph.D., Hubrecht Institute

What Happens in a Medical Genetics Clinic? (30 min)
Ada Hamosh, M.D., MPH, Johns Hopkins University School of Medicine
Julie Hoover-Fong, M.D., Ph.D., Johns Hopkins University School of Medicine

Immunology Primer (1 hr)
David Serreze, Ph.D., The Jackson Laboratory

Monday, July 26

Day 6: Monday, July 26
Cellular & Molecular Basis of Disease

8:30 am EDT
WORKSHOP: RNA Sequencing
Steven Munger, Ph.D., The Jackson Laboratory

10:00 am EDT
Immune Responses to SARS-CoV-2
Akiko Iwasaki, Ph.D., Yale School of Medicine & Howard Hughes Medical Institute

10:50 am EDT
Genetics of Infectious Diseases
Steve Holland, M.D., National Institute of Allergy & Infectious Diseases

11:40 am EDT
Genetic Dissection of IBD, its Pathogenesis & Treatment
Judy Cho, M.D., Icahn School of Medicine at Mount Sinai

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT
Genetics and Genetic Epidemiology of Breast and Ovarian Cancer
Lawrence Brody, Ph.D., National Human Genome Research Institute

1:50 pm EDT
Cancer Biology Exposed Through Large-Scale Sequencing 
Victor Velculescu, M.D., Ph.D., Johns Hopkins University

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
Akiko Iwasaki, Steve Holland, Judy Cho & Lawrence Brody

4:00 - 5:30 pm EDT
Variation, Standardization & Data Sharing
Heidi Rehm, Ph.D., Massachusetts General Hospital & The Broad Institute

Thursday, July 27

Day 7: Tuesday, July 27
Genotype-Phenotype Correlations: Pathophysiology

8:30 am EDT
WORKSHOP: ClinGen & ClinVar
Heidi Rehm, Ph.D., Massachusetts General Hospital & The Broad Institute

10:00 am EDT
Inborn Errors of Metabolism: A Primer
Hilary Vernon, M.D., Ph.D., Johns Hopkins University

10:50 am EDT
Metabolomics and Disease Phenotypes
Ralph DeBerardinis, M.D., Ph.D., University of Texas, Southwestern

11:40 am EDT
Genetic & Pharmacologic Modifiers of Cystic Fibrosis
Garry Cutting, M.D., Johns Hopkins University

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT 
Medical Consequences of Human Diversity
David Goldstein, Ph.D., Columbia University

1:50 pm EDT
Host Genetics and Infectious Disease
Priya Duggal, Ph.D., Johns Hopkins University School of Medicine

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
Hilary Vernon, Ralph DeBerardinis, Garry Cutting, David Goldstein & Priya Duggal

4:00 - 5:30 pm EDT
How de novo Mutations Disrupt Developmental Programs
David FitzPatrick, M.D., The University of Edinburgh Institute of Genetics

Wednesday, July 28

Day 8: Wednesday, July 28
Genome Variation, Precision Medicine & Society 

8:30 am EDT
WORKSHOP: Mouse Genomics
Carol Bult, Ph.D., The Jackson Laboratory

10:00 am EDT
Precision Medicine
Dan Roden, M.D., Vanderbilt University Medical Center

10:50 am EDT
Pharmacogenomics
Richard Weinshilboum, M.D., Mayo Clinic

11:40 am EDT
Prenatal Screening Diagnosis & Therapy
Ignatia Van den Veyver, M.D., Baylor College of Medicine

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT
Maximizing the Usability of Genomics for All
Vence Bonham Jr., J.D., National Human Genome Research Institute

1:50 pm EDT 
CRISPR: Ethics & Governance of Germline Genome Editing
Debra Mathews, Ph.D., MA, Johns Hopkins University 

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
Dan Roden, Richard Weinshilboum, Ignatia Van den Veyver, Vence Bonham Jr. & Debra Mathews

4:00 - 5:30 pm EDT
Humanizing Drug Discovery
David Altshuler, M.D., Ph.D., Vertex Pharmaceuticals

Thursday, July 29

Day 9: Thursday, July 29
Genetic Therapies

8:30 am EDT
WORKSHOP: Skippy Lane Memorial Mouse Clinic
Greg Cox, Ph.D., The Jackson Laboratory 

10:00 am EDT
Antisense Modulation of Splicing for Disease Therapy
Adrian Krainer, Ph.D., Cold Spring Harbor Laboratory 

10:50 am EDT
Early Forays in Individualized Medicine
Timothy Yu, Ph.D., Harvard Medical School & Boston Children's Hospital

11:40 am EDT
In Situ Gene Therapy
Beverly Davidson, Ph.D., University of Pennsylvania, Children's Hospital of Philadelphia

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT
Gene Therapy Approaches to Hemoglobinopathies
Stuart Orkin, M.D., Harvard Medical School

2:00 pm EDT
Panel Discussion + Q&A
Adrian Krainer, Timothy Yu, Beverly Davidson & Stuart Orkin

3:00 - 4:30 pm EDT
Insights into the Pathogenesis and Treatment of Vascular Connective Tissue Disorders
Hal Dietz, M.D., Johns Hopkins University

4:30 - 4:45 pm EDT
Course Summary & Wrap-Up