Jul 17 Human and Mammalian Genetics and Genomics: The 64th McKusick Short Course

Schedule

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July17

July18

July19

July20

July21

July24

July25

July26

July27

July28

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

3:30 – 4:30 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 Reception

6:30 – 8:00 PM

Thomas H. Roderick Memorial Lecture

Title TBD

Jonathan Pritchard, Ph.D.,

Stanford University

9:00 AM

Tuesday, July 18th

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

Title TBD

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

5:00 – 6:30 PM

Poster Session

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

TBD

Phil Hieter, Ph.D.,

University of British Columbia

2:00 – 4:00 PM

WORKSHOP: RNA Sequencing

Steven Munger, Ph.D.,

The Jackson Laboratory

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

TBD

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

7:00 – 8:30 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 – 12:30 PM

Post-traumatic Transgenerational Epigenetic Changes in Rwanda

Leon Mutesa, M.D., Ph.D.,

University of Rwanda

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.,

UT Southwestern Medical Center

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

10:30 – 11:30 AM

CRISPR: Ethics and Governance of Germline Genome Editing

Debra Mathews, Ph.D., MA,

Johns Hopkins University

Charmaine Royal, Ph.D.,

Duke 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

Registration

In-Person Registration

Registration Fee: $1300; Optional Shared Lodging Fee: $1000

Course/Workshop registration fees include all workshop materials, supplies, and most meals. Optional shared lodging is available at the Highseas Conference Center for an additional cost.

Payments:

Registration is only confirmed once full payment has been received. Payment in full is due 45 days before the start of the course. You can pay using Visa, Mastercard, or American Express during registration or select Check Payment. If paying by academic or personal check, payment is due immediately upon acceptance into the workshop. Checks should be made payable to The Jackson Laboratory and mailed to Bank of America, 90260 Collection Center Dr, Chicago, IL 60693. Be sure to include your name and the event title on any checks. Wire transfers will be accepted only with prior authorization; contact the event planner for further instructions. All bank charges associated with payment are the responsibility of the course participant.

Receipts:

Receipts will be provided automatically when payment is received via email through the registration system.

Cancellations and Refunds:

To receive a refund on registration, written cancelation (email) must be received 30 calendar days prior to the start date of the course. Refunds will be subject to administrative fees as follows:

If canceled prior to 30 days from the course start date, you will be refunded your registration & lodging fee less 10% of fees paid as an administrative registration fee.
If canceled 14-29 days prior to the course start date, you will be refunded 50% of your registration & lodging fees.
If canceled less than 14 days prior to the course start date, no refund is available.

If the attendee is not able to attend the course but would like to send a qualified colleague in your place, JAX will transfer your registration to your colleague’s registration at no additional cost.

In-Person Scholarship Application

Registration Fee: $1300: Optional Shared lodging: $1000

Apply Now

Scholarships are available for this course, and are made possible by the Howard Hughes Medical Institute, NIH Grants, foundation awards and gifts or donations to The Jackson Laboratory. The Jackson Laboratory strongly encourages students, post-doctoral fellows, or junior faculty from populations under-represented in the biomedical sciences to register, with a preference for those currently enrolled in or working at a U.S. institution. Underrepresented populations are defined by the National Institutes of Health, see NIH NOT-OD-20-031 for definitions.

Scholarship applications will be reviewed on a rolling basis.

Course/Workshop registration fees include all workshop materials, supplies, and most meals. Optional shared lodging is available at the Highseas Conference Center for an additional fee.

Payments:

Payments will not be charged until your scholarship application has been reviewed. If you supply a credit card at the time of registration, a pre-authorization may be placed on the card.

Registration is not confirmed until full payment has been received (less any scholarships). Payment in full is due 45 days prior to the start of the course. During registration you can pay using Visa, Mastercard, or American Express or select Check Payment. If paying by academic or personal check, payment is due immediately upon acceptance into the workshop. Checks should be made payable to The Jackson Laboratory and mailed to Bank of America, 90260 Collection Center Dr, Chicago, IL 60693. Be sure to include your name and the title of the event on any checks. Wire transfers will be accepted only with prior authorization; contact the event planner for further instructions. All bank charges associated with payment are the responsibility of the course participant.

Receipts:

Receipts will be provided automatically when payment is received via email through the registration system.

Virtual

Standard Registration Fee: $400; Scholarship Applicant Registration Fee: $25

Virtual registration includes live access to all didactic lectures, and access to lecture recordings for 3 months after the conclusion of the event. Due to speaker permissions, some lectures may not be recorded.

Payments:

Payment is due at the time of registration via credit card. If you are unable to pay via credit card, please contact the event planner before registering for instructions.

Receipts:

Receipts will be provided automatically when payment is received via email through the registration system.

Cancellations and Refunds:

To receive a refund on registration, written cancelation (email) must be received 30 calendar days prior to the start date of the course. Refunds will be subject to administrative fees as follows:

If canceled prior to 30 days from the course start date, you will be refunded your registration fee less 10% of fees paid as an administrative registration fee.
If canceled 14-29 days prior to the course start date, you will be refunded 50% of your registration fees.
If canceled less than 14 days prior to the course start date, no refund is available.

The McKusick Short CourseUpcoming Event

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

Location: Hybrid - The Jackson Laboratory, Bar Harbor ME, & Virtual

"A trusted genetics and genomics resource for over 60 years"

About

2023 Featured Speakers:

Chen K. Chai Memorial Lecture

Victor A. McKusick Memorial Lecture

Thomas H. Roderick Memorial Lecture

Senior Lecturer

In-Person Option

Virtual Option

Code of Conduct

Schedule

Speakers

Stylianos Antonarakis, M.D., DSc

University of Geneva Medical School

Michael Beer, Ph.D.

John Hopkins University School of Medicine

Hans Tomas Bjornsson, M.D., Ph.D.

Johns Hopkins School of Medicine; University of Iceland

Carol Bult, Ph.D.

The Jackson Laboratory

Peter Byers

University of Washington

Lon Cardon, Ph.D., FMedSci

The Jackson Laboratory

Jean-Laurent Casanova, M.D., Ph.D.

The Rockefeller University

Gary Churchill, Ph.D.

The Jackson Laboratory

Garry Cutting, M.D.

Johns Hopkins Unviersity School of Medicine

Ralph DeBerardinis, M.D., Ph.D.

UT Southwestern Medical Center

Harry (Hal) Dietz, M.D.

Johns Hopkins University School of Medicine

Beth Dumont, Ph.D.

The Jackson Laboratory

Jonathan A. Epstein, M.D.

Perelman School of Medicine, University of Pennsylvania; University of Pennsylvania Health System

Segun Fatumo, Ph.D.

Will Foulkes

Geoff Ginsburg

NIH

Loyal Goff, Ph.D.

Johns Hopkins University School of Medicine

Christian Happi, Ph.D.

African Center of Excellence for Genomics of Infectious Diseases (ACEGID) & Redeemer's University

Steven M. Holland, M.D.

National Institute of Allergy and Infectious Diseases, NIH

Robert Kuhn, Ph.D.

UC Santa Cruz

Jeanne B. Lawrence, Ph.D.

University of Massachusetts Medical School

Debra Mathews, Ph.D., M.A.

Johns Hopkins University School of Medicine

Andy McCallion, Ph.D.

Johns Hopkins University School of Medicine

Steven Munger, Ph.D.

The Jackson Laboratory

Leon Mutesa, M.D., Ph.D.

University of Rwonda

Benjamin Neale, Ph.D.

The Broad Institute; Massachusetts General Hospital

Alondra Nelson, Ph.D.

Institute for Advanced Study

Greg Newby, Ph.D.

Broad Institute of MIT & Harvard

Serena Nik-Zainal, Ph.D.

University of Cambridge

Robert Nussbaum, M.D.

Invitae

Anne O'Donnell-Luria, M.D., Ph.D.

Boston Children's Hospital, Harvard Medical School

Eric Olson, Ph.D.

UT Southwestern Medical Center

Rachel O'Neill, Ph.D.

University of Connecticut

Stuart Orkin, M.D.