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.
Please contact the event organizer for more information
Jul 19 - 31
2015
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:
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.
Attendees are strongly encouraged to present at a poster session. If you are interested in presenting, please prepare a one-page abstract to be compiled with others in booklet form for the course. Abstracts must fit on one side of an 8 1/2 x 11" page with 1" margins. It should have a title and author line. The attending author's name must be underlined. Abstracts of your poster presentation should be submitted in a pdf file or Word document as an email attachment.
This activity has been planned and implemented in accordance with the Essentials and Standards of the Maine Medical Association Committee on Continuing Medical Education and Accreditation through the partnership of Maine Medical Education Trust and The Jackson Laboratory. The Maine Medical Education Trust is accredited by the Maine Medical Association to provide CME activities for physicians.
The Maine Medical Education Trust designates this activity for a maximum of 70 AMA PRA Category 1 Credit(s)TM. Physicians should only claim credit commensurate with the extent of their participation in the activity.
7:30 AM |
Late Registration and Continental Breakfast |
The Jackson Laboratory, 600 Main Street |
8:00 AM |
Overview of Course Evaluations |
The Jackson Laboratory, 600 Main Street |
8:20 AM |
Course Welcome |
The Jackson Laboratory, 600 Main Street |
![]() Edison T. Liu, M.D.Professor, President Emeritus and Honorary FellowThe Jackson Laboratory |
||
8:40 AM |
History of Human Genetics |
The Jackson Laboratory, 600 Main Street |
![]() David Valle, M.D.Professor of Genetic Medicine and Director, Institute of Genetic MedicineJohns Hopkins University School of Medicine |
||
9:25 AM |
The Evolution of Mouse Genetics: Past, Present and Future |
The Jackson Laboratory, 600 Main Street |
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Chromosome Structure and Function |
The Jackson Laboratory, 600 Main Street |
![]() Jeanne B. Lawrence, Ph.D.Professor of Neurology and PediatricsUniversity of Massachusetts Medical School |
||
11:40 AM |
TBD |
The Jackson Laboratory, 600 Main Street |
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
Mendelian Inheritance in Humans |
The Jackson Laboratory, 600 Main Street |
![]() Clair Ann Francomano, M.D.Director, Adult GeneticsHarvey Institute for Human Genetics, Greator Baltimore Medical Center |
||
3:00 PM |
Mice as Models for Human Diseases |
The Jackson Laboratory, 600 Main Street |
![]() Gregory Cox, Ph.D.Associate ProfessorThe Jackson Laboratory |
||
6:00 PM |
Thomas H. Roderick Lecture Reception |
The Jackson Laboratory - Roscoe’s Dining Area |
7:00 PM |
Introduction and Welcome |
The Jackson Laboratory, 600 Main Street |
7:20 PM |
Thomas H. Roderick Memorial Lecture Title TBD |
The Jackson Laboratory, 600 Main Street |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
Genetics of Chromatin Readers and Writers |
The Jackson Laboratory, 600 Main Street |
![]() Hans Tomas Bjornsson, M.D., Ph.D.Assistant Professor of Pediatrics and Genetics; Associate ProfessorJohns Hopkins School of Medicine; University of Iceland |
||
9:25 AM |
Epigenetics |
LCC Auditorium |
![]() Andrew Feinberg, M.D., MPHDirector, Center for EpigeneticsThe Johns Hopkins University School of Medicine |
||
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Transcriptional Responses to Hypoxia and Ischemia |
The Jackson Laboratory, 600 Main Street |
![]() Gregg L Semenza, M.D., Ph.D.Professor of Genetic MedicineJohns Hopkins University School of Medicine |
||
11:40 AM |
Genetics of Obesity and Type II Diabetes |
The Jackson Laboratory, 600 Main Street |
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
RNA Sequencing Workshop |
The Jackson Laboratory, 600 Main Street |
2:30 PM |
Exome Sequencing Workshop |
The Jackson Laboratory, 600 Main Street |
5:00 PM |
Poster Session |
Bar Harbor Regency Hotel – Ballroom, 123 Eden Street |
7:30 PM |
TGF Beta Signaling and Marfan Syndrome |
Bar Harbor Regency Hotel – Stone House, 123 Eden Street |
![]() Harry (Hal) Dietz, M.D.Director, William S. Smilow Center for Marfan Syndrome Research Institute of Genetic Medicine; Professor of Genetic MedicineJohns Hopkins University School of Medicine |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
Population Genomics |
The Jackson Laboratory, 600 Main Street |
9:40 AM |
Methods for Linkage & Association Studies |
The Jackson Laboratory, 600 Main Street |
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Methods for Linkage & Association Studies continued |
The Jackson Laboratory, 600 Main Street |
11:40 AM |
Complex Traits in Mice |
The Jackson Laboratory, 600 Main Street |
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
UCSC Genome Browser |
The Jackson Laboratory, 600 Main Street |
7:30 PM |
Evening Lecture - TBD |
Bar Harbor Regency Hotel – Stone House, 123 Eden Street |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
Genetic Epidemiology of Breast and Ovarian Cancer |
The Jackson Laboratory, 600 Main Street |
9:25 AM |
Cancer biology exposed by large-scale sequencing |
The Jackson Laboratory, 600 Main Street |
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Genetics of Schizophrenia |
The Jackson Laboratory, 600 Main Street |
11:40 AM |
Proteomics |
The Jackson Laboratory, 600 Main Street |
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
Mouse Genomic Resources Workshop |
The Jackson Laboratory, 600 Main Street |
5:00 PM |
Lobster Dinner |
Bar Harbor Regency Hotel – Ballroom, 123 Eden Street |
7:30 PM |
Chen K. Chai Lecture Fishing for the secrets of evolutionary change in sticklebacks and humans |
Bar Harbor Regency Hotel – Ballroom, 123 Eden Street |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
Human Population History and Genetics |
The Jackson Laboratory, 600 Main Street |
9:25 AM |
African Genomics: Implications for Studies of Human Evolution and Disease |
The Jackson Laboratory, 600 Main Street |
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
CRISPR/Cas9-mediated Genome Editing |
The Jackson Laboratory, 600 Main Street |
11:40 AM |
iPS Cell Technology, Gene Editing and Disease Research |
The Jackson Laboratory, 600 Main Street |
12:30 PM |
Box Lunches |
The Jackson Laboratory, 600 Main Street |
12:00 AM |
No Scheduled Course Events |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
The Major Histocompatibility Complex in Health and Disease |
The Jackson Laboratory, 600 Main Street |
9:25 AM |
Genetics of Autoimmunity |
The Jackson Laboratory, 600 Main Street |
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Immune Dysfunction from Common and Rare Variants |
The Jackson Laboratory, 600 Main Street |
11:40 AM |
Genetics of Infectious Diseases |
The Jackson Laboratory, 600 Main Street |
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
Inborn Errors |
The Jackson Laboratory, 600 Main Street |
2:30 PM |
Workshop: Methods of Molecular Genetics |
The Jackson Laboratory, 600 Main Street |
7:30 PM |
Lessons Learned from Genomics and Gene Regulation |
Bar Harbor Regency Hotel – Stone House, 123 Eden Street |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
KOMP |
The Jackson Laboratory, 600 Main Street |
9:25 AM |
Modeling Behavior in the Laboratory Mouse |
The Jackson Laboratory, 600 Main Street |
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
CNVs in Human Disease |
The Jackson Laboratory, 600 Main Street |
11:40 AM |
Chromosome Instability and Cancer |
The Jackson Laboratory, 600 Main Street |
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
Human Genomes and Genomic Resources Workshop |
The Jackson Laboratory, 600 Main Street |
7:30 PM |
Reawakening Fetal Hemoglobin for Therapy: An Old Problem with New Prospects |
Bar Harbor Regency Hotel – Stone House, 123 Eden Street |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
Genetic Modifiers of CF |
The Jackson Laboratory, 600 Main Street |
9:25 AM |
Molecular Bases of Malformation Syndromes |
The Jackson Laboratory, 600 Main Street |
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Genetic Disorders of Dietary Excess: Getting to the Heart of the Matter |
The Jackson Laboratory, 600 Main Street |
11:40 AM |
Genetic Disorders of Dietary Excess: Getting to the Heart of the Matter |
The Jackson Laboratory, 600 Main Street |
![]() Richard M. Weinshilboum, M.D.Professor of Pharmacology and MedicineMayo Clinic |
||
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
12:30 PM |
Human Genetics Clinic Presentations (Selected Participants and Invited Guests Only) |
La Bella Vita Ristorante |
![]() Ada Hamosh, M.D., M.P.H.Dr. Frank V. Sutland Professor of Pediatric Genetics; Professor of Genetic MedicineJohns Hopkins University School of Medicine |
||
12:30 PM |
Lunch (Selected Participants and Invited Guests Only) |
La Bella Vita Ristorante |
2:00 PM |
Human Genetics Clinic Presentations (Open to All Attendees) |
Bar Harbor Regency Hotel – Stone House, 123 Eden Street |
![]() Ada Hamosh, M.D., M.P.H.Dr. Frank V. Sutland Professor of Pediatric Genetics; Professor of Genetic MedicineJohns Hopkins University School of Medicine |
||
7:30 PM |
Senior Lecturer: Mouse Models and Stem Cell Models of Human Disease
|
Bar Harbor Regency Hotel – Stone House, 123 Eden Street |
![]() Janet Rossant, CC, PhD, FRS, FRSCSenior Scientist & Chief of Research EmeritusPeter Gilgan Centre for Research and Learning, The Hospital for Sick Children |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
Development of Humanized Mouse Models for Biomedical Research |
|
![]() Michael A. Brehm, Ph.D.Associate Professor, Program in Molecular MedicineUniversity of Massachusetts Medical School |
||
9:25 AM |
Metabolomics and Metabolic Flux Analysis |
|
![]() Ralph DeBerardinis, M.D., Ph.D.Chief, Division of Pediatric Genetics and Metabolism; ProfessorUT Southwestern Medical Center |
||
10:25 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Biomedical Ethics in Genomics |
|
![]() Debra Mathews, Ph.D., M.A.Associate Professor, Genetic MedicineJohns Hopkins University School of Medicine |
||
11:40 AM |
DNA Forensics |
|
Phil Reilly, M.D., J.D.Third Rock Ventures |
||
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
Mouse Genetics Clinic |
|
![]() Gregory Cox, Ph.D.Associate ProfessorThe Jackson Laboratory |
||
7:30 PM |
ELSI Case Studies
|
Bar Harbor Regency Hotel – Stone House, 123 Eden Street |
7:45 AM |
Continental Breakfast |
The Jackson Laboratory - Roscoe’s Dining Area |
8:30 AM |
Prenatal Diagnosis and Screening |
|
![]() Laird Gray Jackson, M.D.Professor, Genetics, Dept OB-GynDrexel University College of Medicine |
||
9:25 AM |
Treatment of Genetic Disease |
|
![]() David Valle, M.D.Professor of Genetic Medicine and Director, Institute of Genetic MedicineJohns Hopkins University School of Medicine |
||
10:15 AM |
Break |
The Jackson Laboratory - Roscoe’s Dining Area |
10:45 AM |
Gene Therapy for Genetic Disease |
|
Katherine A. High, M.D.William H. Bennett Professor of PediatricsChildren's Hospital of Philadelphia |
||
11:40 AM |
Course Wrap Up |
|
![]() Janet Rossant, CC, PhD, FRS, FRSCSenior Scientist & Chief of Research EmeritusPeter Gilgan Centre for Research and Learning, The Hospital for Sick Children |
||
12:30 PM |
Lunch |
The Jackson Laboratory - Roscoe’s Dining Area |
1:30 PM |
End of the course |
Professor and Chairman of Genetic Medicine
Assistant Professor of Pediatrics and Genetics; Associate Professor
Associate Professor, Program in Molecular Medicine
Associate Professor
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
Director, Center for Epigenetics
Director, Adult Genetics
Dr. Frank V. Sutland Professor of Pediatric Genetics; Professor of Genetic Medicine
William H. Bennett Professor of Pediatrics
Professor, Genetics, Dept OB-Gyn
Professor of Neurology and Pediatrics
Professor, President Emeritus and Honorary Fellow
Co-Executive Director of the Institute for Genomic Medicine
Associate Professor, Genetic Medicine
Assistant Director, Human Genetics Graduate Program; Professor of Genetic Medicine
Professor of Molecular Biology and HHMI Investigator
Professor of Pediatrics and Director, Division of Medical Genetics
Venture Partner
Senior Scientist & Chief of Research Emeritus
Professor of Genetic Medicine
Professor of Genetic Medicine and Director, Institute of Genetic Medicine
Professor of Pharmacology and Medicine
Attendees will be responsible for their own travel and lodging arrangements for the duration of this event.
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.
This is a change to my text.
Associate Professor
Director, Center for Human Genetics and Genomics
Professor of Genetic Medicine and Director, Institute of Genetic Medicine
Scientific Director and Professor, The Jackson laboratory for Genomic Medicine, Robert Alvine Family Endowed Chair