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.
VIRTUAL OPTION: Those unable to travel to the Short Course now have the ability to attend via webcast. Read more below.
Please contact the event organizer for more information
Jul 15 - 26
2019
This course includes daily lectures in the mornings and evenings as well as afternoon mini-symposia, workshops, tutorials, demonstrations and a poster session. There is special emphasis on student-faculty interaction. The faculty is diverse in terms of disciplines and the students in terms of stage of career and fields of concentration. This diversity makes for an enriching experience for all. Although the course schedule is quite full, there is time set aside to enjoy the natural beauty of Mt. Desert Island and Acadia National Park.
The content of the annual Short Course focuses on three areas:
an up-to-date presentation of genetics in experimental animals and humans
the relationship of heredity to disease in experimental animals and humans
the importance of molecular genetics in the diagnosis and treatment of inherited disorders.
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.
Educational Credits:
The Maine Medical Education Trust designates this live activity for a maximum of 47.25 AMA PRA Category 1 Credit(s)TM. Physicians should only claim credit commensurate with the extent of their participation in the activity.
This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of the Maine Medical Education Trust and The Jackson Laboratory. The Maine Medical Education Trust is accredited by the Maine Medical Association Committee on Continuing Medical Education and Accreditation to provide continuing medical education for physicians.
Research reported in this publication was supported by the Eunice Kennedy Shriver National Institute of Child Health & Human Development of the National Institutes of Health under Award Number R25HD079344, The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.
12:00 PM |
July 15 8:00 - 9:00am Registration and Continental Breakfast
9:00 - 9:15am Overview of Course Evaluations
9:15 - 9:30am Course Welcome Edison Liu, M.D., The Jackson Laboratory
9:30 - 10:25am History of Human Genetics David Valle, M.D., Johns Hopkins University School of Medicine
10:25 - 11:00am Break
11:00 – 11:55am Opportunities for Using Mouse Models in the 21st Century Gary Churchill, Ph.D., The Jackson Laboratory
11:55 - 12:50pm Chromosome Structure and Function Jeanne Lawrence, Ph.D., University of Massachusetts Medical School
12:50 - 2:00pm Lunch
2:00 - 2:55pm Genetic Recombination: What it is, Why You Should Care, and How it Works Kenneth Paigen, Ph.D., The Jackson Laboratory
2:55 - 3:50pm Mice as Models for Human Diseases Greg Cox, Ph.D., The Jackson Laboratory
3:50 - 4:15pm Break
4:15 - 5:10pm Molecular Genetics John A. Phillips, III., M.D., Vanderbilt University School of Medicine
5:10 - 6:00pm Social Hour
6:00 - 7:00pm Welcome Dinner |
12:30 PM |
July 16th 8:30 - 9:25am Epigenetics Hans Bjornsson, M.D., Ph.D., Johns Hopkins University School of Medicine
9:25 - 10:15am Transcriptional Regulation of Gene Expression Andrew S. McCallion, Ph.D., Johns Hopkins University School of Medicine
10:45 - 11:40am Single Cell Analysis in Normal and Disease Tissue Loyal Goff, Ph.D., Johns Hopkins University School of Medicine
11:40 - 12:30pm Three-Dimensional Folding of Mammalian Genomes Jennifer Phillips-Cremins, Ph.D., University of Pennsylvania
12:30 - 1:30pm Lunch
1:30 - 2:30pm Introduction to MGI/OMIM David Shaw, M.S., The Jackson Laboratory and Ada Hamosh, M.D., The Johns Hopkins University School of Medicine
2:30 - 4:30pm RNA-seq Analysis Workshop Steve Munger, Ph.D., The Jackson Laboratory
6:00 - 7:00pm Thomas H. Roderick Lecture Reception
7:00 - 7:20pm Introduction and Welcome
7:20 - 8:15pm Thomas H. Roderick Memorial Lecture Chromatin Kenneth Paigen Ph.D., The Jackson Laboratory |
12:30 PM |
8:30 - 9:25am Sequencing Technology and Application Elaine Mardis, Ph.D., Nationwide Children’s Hospital
9:25 - 10:15am CNVs in Human Disease Charles Lee, Ph.D., The Jackson Laboratory for Genomic Medicine
10:45 - 11:40am New Strategies for Accelerating Regeneration Nadia Rosenthal, Ph.D., The Jackson Laboratory
11:40 - 12:30pm Albert Cheng, Ph.D., The Jackson Laboratory for Genomic Medicine
12:30 - 1:30pm Lunch - Roscoe’s Dining Area
1:30 - 3:30pm WES/WGS Analysis Workshop Nara Sobreira, M.D., Ph.D., Johns Hopkins University School of Medicine
5:00 - 7:00pm Poster Session
7:30 - 9:00pm The Nature of Mutation Stylianos Antonarakis, M.D., Ph.D., University of Geneva Medical School |
12:30 PM |
8:30 - 9:25am A Primer on Quantitative Systems Biology Aravinda Chakravarti, Ph.D., NYU Langone Health
9:25 - 10:15am Methods for Genetic Association Studies in Humans Goncalo Abecasis, Ph.D., The University of Michigan
10:45 - 11:40am Mapping Complex Traits in Mice Gary Churchill, Ph.D., The Jackson Laboratory
11:40 - 12:30pm Regulation of Oxygen Homeostasis by Hypoxia-Inducible Factor 1 Gregg Semenza, M.D., Ph.D., Johns Hopkins University School of Medicine
12:30 - 1:30pm Lunch - Roscoe’s Dining Area
1:30 - 2:30pm Inborn Errors of Metabolism Hilary Vernon, M.D., Ph.D., Johns Hopkins University School of Medicine
2:30 - 3:30pm Workshop: Solving Molecular Genetic Problems John A. Phillips, III, M.D., Vanderbilt University School of Medicine
7:30 - 9:00pm Insights from Genetic Disorders of Cranial Motor Neuron Development Elizabeth Engle, M.D., Boston Children’s Hospital |
12:30 PM |
8:30 - 9:25am Genetic Epidemiology of Breast and Ovarian Cancer Larry Brody, Ph.D., National Human Genome Research Institute
9:25 - 10:15am Epigenetic Regulation in Development, Aging and Disease Rudolf Jaenisch, M.D., Whitehead Institute
10:45 - 11:40am Inborn Errors of the Epigenetic Apparatus: Genetics of Chromatin Readers and Writers Hans Bjornsson, M.D., Ph.D., Johns Hopkins University School of Medicine
11:40 - 12:30pm Using Large-Scale Genomic Databases to Understand Human Gene Function Daniel MacArthur., Ph.D., The Broad Institute
12:30 - 1:30pm Lunch
1:30 – 3:30pm Mouse Genomic Resources Wrokshop Carol Bult, Ph.D., The Jackson Laboratory
7:30 - 9:00pm Chen K. Chai Lecture - Systems Genomics in Breast Cancer Edison Liu, M.D., The Jackson Laboratory |
12:30 PM |
8:30 - 9:25am Genetics of Autoimmunity David Serreze, Ph.D., The Jackson Laboratory
9:25 - 10:15 am Genetic Disorders of Immunity Jennifer Puck, M.D., University of California San Francisco
10:45 - 11:40am Immunodeficiency Steven M. Holland, M.D., National Institutes of Health
11:40 – 12:30pm Innate Immunity and IBD Judy Cho, M.D., Icahn School of Medicine at Mount Sinai
12:30 - 1:30pm Lunch
1:30 - 3:30pm ClinGen and ClinVar Workshop Heidi Rehm, Ph.D., Massachusetts General Hospital
7:30-9:00pm Case Studies in Genomic Medicine Heidi Rehm, Ph.D., Massachusetts General Hospital |
12:30 PM |
8:30 - 9:25am Genomics and the Inference of Human Population History Andrew Clark, Ph.D., Cornell University
9:25 - 10:15 am African Evolutionary Genomics Sarah Tishkoff, Ph.D., University of Pennsylvania
10:45 - 11:40am Genetic and Pharmacologic Modifiers of Cystic Fibrosis Gary R. Cutting, M.D., Johns Hopkins University School of Medicine
11:40 - 12:30pm Clinical Reasoning in the Genomic Era Leslie Biesecker, M.D., National Human Genome Research Institute
12:30 - 1:30pm Lunch
1:30 - 3:30pm UCSC Genome Browser in Clinical Medicine Robert Kuhn, Ph.D., UCSC
7:30 - 9:00pm TGF Beta Signaling and the Marfan Syndrome Harry C. Dietz, M.D., Johns Hopkins University School of Medicine and Howard Hughes Medical Institute |
12:30 PM |
8:30 - 9:25am The Humanized Mouse in Biomedical Research Lenny Shultz, Ph.D., The Jackson Laboratory
9:25 - 10:15am The Genetics and Clinical Phenotypes of Inherited Skeletal Dysplasias Julie Hoover-Fong, M.D., Ph.D., Johns Hopkins University School of Medicine
10:45 - 11:40am Enabling Genetic Medicine in Africa Ambroise Wonkam, Ph.D., University of Cape Town
11:40 - 12:30pm Pharmacogenomics: Development, Science and Translation Richard Weinshilboum, M.D., Mayo Clinic
12:30 - 1:30pm Lunch
2:00 - 4:00pm Human Genetics Clinic Presentations Ada Hamosh, M.D., M.P.H., Johns Hopkins University School of Medicine
7:30 - 9:00pm Senior Lecturer Genetic Testing: View from the Front Lines Robert Nussbaum, M.D., Invitae |
12:30 PM |
8:30 - 9:25 am Proteomics as a Biological Assay Steven Gygi, Ph.D., Harvard Medical School
9:25 - 10:25am Prenatal Diagnosis and Screening Ignatia B. Van den Veyver, M.D., Baylor College of Medicine
10:45 - 11:40am Biomedical Ethics in Genomics Debra Mathews, Ph.D., M.A., Johns Hopkins Berman Institute of Bioethics, Johns Hopkins School of Medicine
11:40 - 12:30pm Antisense Therapy for Genetic Diseases Adrian Krainer, Ph.D., Cold Spring Harbor Laboratory
12:30 - 1:30pm Lunch
1:30 - 3:30pm Mouse Genetics Clinic Greg Cox, Ph.D., The Jackson Laboratory
5:00 - 7:00pm Harbor Cruise - Advance sign up required
7:30 - 9:00pm ELSI Case Studies John A. Phillips, III., M.D., Vanderbilt University School of Medicine, Debra Mathews, Ph.D., M.A., Johns Hopkins Berman Institute of Bioethics, Johns Hopkins School of Medicine Ada Hamosh, M.D., M.P.H., Johns Hopkins University School of Medicine |
12:30 PM |
8:30 - 9:25am Metabolomics and Human Disease Ralph DeBerardinis, M.D., Ph.D., UT Southwestern
9:25 - 10:15am Treatment of Genetic Disease David Valle, M.D., Johns Hopkins University School of Medicine
10:45 - 11:40am Cancer Biology Exposed by Large-Scale Sequencing Victor Velculescu, M.D., Ph.D., Johns Hopkins University School of Medicine
11:40 - 12:30pm Course Summary & Wrap Up Robert Nussbaum, M.D., Invitae
12:30 - 1:30pm Lunch
-End- |
A limited number of shared dormitory rooms are available at the College of the Atlantic (COA) for $1000.00 (total cost). This includes dinner on most evenings at the COA Cafeteria. These rooms are limited and will be filled on a first come, first served basis. Detailed information including reservation instructions will be emailed to confirmed attendees.
For area information and additional lodging options: Bar Harbor Chamber of Commerce
Morning transportation will be provided by The Jackson Laboratory from both the Bar Harbor Regency and College of the Atlantic. All other transportation will be on your own. There is a free bus system available that runs throughout Bar Harbor - Island Explorer. The Jackson Laboratory is located between The Village Green and Sieur de Monts on the Sand Beach (Bus 3) Route; and both the Bar Harbor Regency Hotel and the College of the Atlantic are on the Eden Street (Bus 2) Route.
Getting around Bar Harbor: Island Explorer free bus system
Airports: Bar Harbor is served by two airports:
Car: Bar Harbor is approximately 6 hours by car from the greater Boston area.
Area information: Acadia National Park
There are services available for the disabled. If special arrangements are required for an individual with a disability to attend this program please contact Erin McDevitt at 207-288-6659.
Chair, Department of Biostatistics; Felix E. Moore Collegiate Professor of Biostatistics
Professor and Chairman of Genetic Medicine
Chief & Senior Investigator
Assistant Professor of Pediatrics and Genetics; Associate Professor
Director, Division of Genomics and Society; Senior Investigator, Medical Genomics and Metabolic Genetics Branch; Head, Molecular Pathogensis Section
Professor, Knowlton Family Chair
Director, Charles Bronfam Institute for Personal Medicine
Professor, Karl Gunnar Johansson Chair
Professor
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
Senior Associate, Department of Neurology & Professor
Assistant Professor, Genetic Medicine
Professor of Cell Biology
Director General of EMBL
Professor of Genetic Medicine; Director, Greenberg Center for Skeletal Dysplasias
Director, Division of Intramural Research; Chief Immunopathogenesis Section
Founding Member; Professor of Biology
Professor
Associate Director, UCSC Genome Browser
Professor of Neurology and Pediatrics
Professor, President Emeritus and Honorary Fellow
Assistant Professor Harvard Medical School and Massachusetts General Hospital
Co-Executive Director of the Institute for Genomic Medicine
Associate Professor, Genetic Medicine
Assistant Director, Human Genetics Graduate Program; Professor of Genetic Medicine
Chief Medical Officer
Professor of Pediatrics and Director, Division of Medical Genetics
Associate Professor
Professor of Pediatrics
Chief Genomics Officer
Chief Medical Officer, JAX; Medical Director, MCGI
Professor of Genetic Medicine
Professor
Senior Database User Support Specialist II
Professor
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 of Pharmacology and Medicine
Director, McKusick-Nathans Institute, and Department of Genetic Medicine, Professor of Genetic Medicine; Professor of Medical Genetics, Director of GeneMAP
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