This course is a modern survey of heredity, disease, genetics in experimental animals and humans, and molecular genetics in the diagnosis and treatment of inherited disorders. The program combines JHU research expertise in medical genetics with JAX’s unique knowledge and experience in experimental genetics using the mouse system.
Please contact the event organizer for more information
For nearly 6 decades the 'McKusick Short Course' has been the most influential annual training event in medical genetics. The course was initiated by Dr. Victor McKusick and Jackson Laboratory Faculty and remains a joint effort of Jackson Laboratory and Johns Hopkins University. A large number of the more than 6,000 alumni are now leaders in their fields and have returned to teach as faculty members.
The content of the annual Short Course focuses on three areas:
The development and uses of modern techniques in bioinformatics, mathematical genetics, genome manipulation, mutagenesis and phenotyping are taught in lectures and in afternoon workshop sessions. The Short Course includes a focus on understanding the molecular basis of genetic disease, animal models of disease, treatment and therapy.
9:30 AM |
Monday, July 17th 9:30 – 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
1:00 – 2:30 PM
Opportunities and Limits in the 21st
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
5:00 – 6:30 PM
Thomas H. Roderick Memorial Lecture
Jonathan Pritchard, Ph.D., Gene Regulation, Selection, and the Genetic Architecture of Complex
Traits Stanford University
7:00 PM
Thomas H. Roderick Reception |
9:00 AM |
Tuesday, July 18th 8:00 – 9:00 AM TBD
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
David Shaw, M.S.,
The Jackson Laboratory
2:30 – 3:00 PM
WORKSHOP: Intro to OMIM
Ada Hamosh, M.D.,
Johns Hopkins University
3:00 – 4:00 PM
WORKSHOP: All of US
Geoff Ginsburg, M.D., Ph.D.,
National Institutes of Health
7:00 – 8:30 PM
Human Genome Variants
Stylianos Antonarakis, M.D., DSc,
University of Geneva Medical School
|
8:00 AM |
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 in the Clinic and the Lab
Robert Kuhn, Ph.D.,
University of California Santa Cruz
7:00 – 8:30 PM
Senior Lecturer
Title TBD
Peter Byers, Ph.D.,
UW Medicine |
8:00 AM |
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
Gregg Semenza, M.D., Ph.D.,
Johns Hopkins University |
8:00 AM |
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
Alondra Nelson, Ph.D.,
Institute for Advanced Study
|
8:00 AM |
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 African Genomic Variations to Improve Generic Medicine
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 TBD 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
Title TBD
Eric Olson, Ph.D.,
UT Southwestern Medical Center |
8:00 AM |
Tuesday, July 25th 8:00 – 9:00 AM
Title TBD
Jennifer Puck, Ph.D.,
UC San Francisco
9:00 – 10:00 AM
Genetics of Infectious Diseases
Steven Holland, M.D.,
National Institute of Allergy & Infectious Diseases,
NIH
10:30 – 11:30 AM
Genomics Characterization and Surveillance of Microbial Threats in West
Africa
Christian Happi, Ph.D.,
Redeemer’s University
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
Carol Bult, Ph.D.,
The Jackson Laboratory
7:00 – 8:30 PM
Title TBD
Jonathan Epstein, M.D.,
University of Pennsylvania
|
8:00 AM |
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
TBD Juilann Savatt, M.S., C.G.C., Geisinger
10:30 – 11:30 AM
CRISPR: Ethics and Governance of Germline Genome Editing
Debra Mathews, Ph.D., MA,
Johns Hopkins University
11:30 AM – 12:30 PM
TBD
Krystal Tsosie, Ph.D.,
University of Arizona
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
Aravinda Chakravarti, Ph.D.,
NYU Langone Health
Charmaine Royal, Ph.D.,
Duke University
Sarah Tishkoff, Ph.D.,
University of Pennsylvania, Perelman School of
Medicine |
8:00 AM |
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 Disease Phenotypes
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
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 – The Bar Harbor Regency
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 |
8:00 AM |
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 |
Professor and Chairman of Genetic Medicine
Professor of Biomedical Engineering
Assistant Professor of Pediatrics and Genetics; Associate Professor
Professor, Knowlton Family Chair
President and CEO
Levi Family Professor
Professor, Karl Gunnar Johansson Chair
Professor of Genetic Medicine
Chief, Division of Pediatric Genetics and Metabolism; Professor
Director, William S. Smilow Center for Marfan Syndrome Research Institute of Genetic Medicine; Professor of Genetic Medicine
Associate Professor
Professor of Medicine and Cell and Developmental Biology & Executive Vice Dean and Chief Scientific Officer; Senior Vice President and Chief Scientific Officer
Assistant Professor, Genetic Medicine
Professor
Professor
Director, Division of Intramural Research; Chief Immunopathogenesis Section
Associate Director, UCSC Genome Browser
Professor of Neurology and Pediatrics
Associate Professor, Genetic Medicine
Assistant Director, Human Genetics Graduate Program; Professor of Genetic Medicine
Associate Professor
Professor
Institute Member and Co-Director of Program in Medical and Population Genetics; Associate Professor
Postdoctoral Fellow
Professor of Genomic Medicine and Bioinformatics
Chief Medical Officer
Assistant Professor & Co-Director of the Center of Mendelian Genomics
Professor and Director, Molecular and Cell Biology, Institute Systems Genomics
Professor of Pediatrics
Professor of Pediatrics and Director, Division of Medical Genetics
Associate Professor
Professor of Population Studies
Professor of Pediatrics
Chief Genomics Officer
Assistant Professor of Genome Sciences
Professor of Genetic Medicine
Assistant Professor of Genetic Medicine
Professor
Professor
Professor of Oncology, Pathology and Medicine; Co-Director of Cancer Genetics and Epigenetics; Associate Cancer Center Director for Precision Medicine
Associate Professor of Medical Genetics
Professor and Director of Genome Technologies
Professor of Pharmacology and Medicine
Director, McKusick-Nathans Institute, and Department of Genetic Medicine, Professor of Genetic Medicine; Professor of Medical Genetics, Director of GeneMAP
Associate Professor in Pediatrics; Attending Physician
Registration Fee: $1300; Optional Shared Lodging Fee: $1000
Registration Fee: $1300: Optional Shared lodging: $1000
Standard Registration Fee: $400; Scholarship Applicant Registration Fee: $25
Participants are responsible for arranging their lodging off-campus.
Subsidized, dormitory-style, shared lodging will be made available to approximately sixty attendees on a first-come, first-serve basis at College of the Atlantic.
We will be providing shuttles from the College of the Atlantic to the Jackson Laboratory and back for the duration of the course.
Air
Bar Harbor is serviced by two airports:
Hancock County/Bar Harbor Airport (BHB) – 20 minutes away
Bangor International Airport (BGR) – 1hr 15 minutes away
Public transportation is not available from local airports. Please visit the Bar Harbor and Bangor airport services webpages for information on shuttles to and from Mount Desert Island. Rideshare options like Uber or Lyft are not commonly available.
Ground
Bar Harbor is approximately 5 hours by car from the greater Boston area. Rental cars are available from Hertz at either nearby airport. Additionally, there is a free Island Explorer bus system which can be used around the island and the national park.
Additional Area Information:
Bar Harbor Chamber of Commerce
Acadia National Park
Director, Center for Human Genetics and Genomics
Associate Professor
Dr. Frank V. Sutland Professor of Pediatric Genetics; Professor of Genetic Medicine
Scientific Director and Professor, The Jackson laboratory for Genomic Medicine, Robert Alvine Family Endowed Chair
Scientific Director and Professor, The Jackson Laboratory for Mammalian Genetics, the Maxine Groffsky Endowed Chair
Professor of Genetic Medicine and Director, Institute of Genetic Medicine