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

Intro to MGI (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
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
CNVs in Human Disease
Charles Lee, Ph.D., The Jackson Laboratory for Genomic Medicine

11:40 am EDT
New Human Genome
Karen Miga, Ph.D., University of California, Santa Cruz

12:30 pm EDT
Lunch Break (30 min)

1:00 pm EDT
The ENCODE Project
John Stamatoyannopoulos, M.D., Wellcome Sanger Institute

1:50 pm EDT
The Folded Genome
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
Mendelian Inheritance in Human Disease
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
Genetics at Single Cell Resolution
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
Translation
Rachel Green, Ph.D., Johns Hopkins University School of Medicine

1:50 pm EDT
Proteomic Structure & Function
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 - 5:00 pm EDT
Victor A. McKusick Memorial Lecture
Jennifer Doudna, Ph.D., University of California Berkeley & HHMI

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
A Primer on Quantitative Systems Biology
Aravinda Chakravarti, Ph.D., NYU Langone Health

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

11:40 am EDT
Genetic Architecture of Traits & Diseases / Genome Analysis of Populations
Neil Hanchard, M.D., Ph.D., Baylor College of Medicine

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 Approaches to Understanding Regulatory Learning
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
Regulation of Oxygen Homeostasis by Hypoxia-Inducible Factors
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

Epigenetics & African Genomics
Neil Hanchard, M.D., Ph.D., Baylor College of Medicine

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
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

In vitro Organoid Cultures (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
Immunology
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
Cancer Screening & Population
Lawrence Brody, Ph.D., National Human Genome Research Institute

1:50 pm EDT
Cancer 
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
Hilary Vernon, M.D., Ph.D., Johns Hopkins University

10:50 am EDT
Metabolomics
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
The Microbe Wars: Humans & Virus
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
The Genetic Basis of Human Developmental Disorders
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
Healthcare Disparities
Vence Bonham Jr., J.D., National Human Genome Research Institute

1:50 pm EDT 
CRISPR & Ethics of Genome Editing / ELSI
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
Small Molecule Therapy
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
ASO's & The Treatment of Genetic Disease
Adrian Krainer, Ph.D., Cold Spring Harbor Laboratory 

10:50 am EDT
RNA/ASO's
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

12:30 pm EDT
Lunch Break (30 min)

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

1:50 pm EDT
CRISPR for Therapy & Ethics
Kay Davies, CBE, DBE, F.Med Sci., FRS, University of Oxford

2:40 pm EDT
Break (20 min)

3:00 pm EDT
Panel Discussion + Q&A
Adrian Krainer, Timothy Yu, Beverly Davidson, Kay Davies & Stuart Orkin

4:00 - 5:30 pm EDT
TGF Beta Signaling
Hal Dietz, M.D., Johns Hopkins University

5:30 - 5:45 pm EDT
Course Summary & Wrap-Up