Jackson Laboratory

56th Annual Short Course on Medical and Experimental Mammalian genetics

Location: The Jackson Laboratory, Bar Harbor ME

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

About

Scholarships are available! Now!

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.

Poster session

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.

Schedule

Download full Schedule

July19

July20

July21

July22

July23

July24

July25

July26

July27

July28

July29

July30

July31

4:00 PM	Event Registration	Bar Harbor Regency Hotel
	Janet Rossant, CC, PhD, FRS, FRSC Senior Scientist & Chief of Research Emeritus Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children
	Philip Reilly, M.D., J.D. Venture Partner Third Rock Ventures
	Joshua T. Mendell, M.D., Ph.D. Professor of Molecular Biology and HHMI Investigator UT Southwestern Medical Center

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 Fellow The 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 Medicine Johns 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 Pediatrics University 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 Genetics Harvey 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 Professor The 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	Massively Parallel Sequencing: Technologies and Applications	The Jackson Laboratory, 600 Main Street
	Elaine Mardis, Ph.D. Co-Executive Director of the Institute for Genomic Medicine Nationwide Children's Hospital
9:25 AM	Transcriptional Regulation of Gene Expression	The Jackson Laboratory, 600 Main Street
	Andy McCallion, Ph.D. Assistant Director, Human Genetics Graduate Program; Professor of Genetic Medicine Johns Hopkins University School of Medicine
10:15 AM	Break (GROUP PHOTO)	The Jackson Laboratory - Roscoe’s Dining Area
10:45 AM	Post-transcriptional Control of Gene Expression	The Jackson Laboratory, 600 Main Street
	Harry (Hal) Dietz, M.D. Director, William S. Smilow Center for Marfan Syndrome Research Institute of Genetic Medicine; Professor of Genetic Medicine Johns Hopkins University School of Medicine
11:40 AM	MicroRNAs in Normal Physiology and Disease	The Jackson Laboratory, 600 Main Street
	Joshua T. Mendell, M.D., Ph.D. Professor of Molecular Biology and HHMI Investigator UT Southwestern Medical Center
12:30 PM	Lunch	The Jackson Laboratory - Roscoe’s Dining Area
1:30 PM	Molecular Genetics	The Jackson Laboratory, 600 Main Street
	John A. Phillips III, M.D. Professor of Pediatrics and Director, Division of Medical Genetics Vanderbilt University Medical Center
2:30 PM	Introduction to MGI/OMIM	The Jackson Laboratory, 600 Main Street
	Ada Hamosh, M.D., M.P.H. Dr. Frank V. Sutland Professor of Pediatric Genetics; Professor of Genetic Medicine Johns Hopkins University School of Medicine
7:30 PM	The Nature of Mutation	Bar Harbor Regency Hotel – Stone House, 123 Eden Street
	Stylianos Antonarakis, M.D., DSc Professor and Chairman of Genetic Medicine University of Geneva Medical School

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 Professor Johns Hopkins School of Medicine; University of Iceland
9:25 AM	Epigenetics	LCC Auditorium
	Andrew Feinberg, M.D., MPH Director, Center for Epigenetics The 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 Medicine Johns 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 Medicine Johns 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 Medicine Mayo 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 Medicine Johns 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 Medicine Johns 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, FRSC Senior Scientist & Chief of Research Emeritus Peter 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 Medicine University 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; Professor UT 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 Medicine Johns 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 Professor The 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-Gyn Drexel University College of Medicine
9:25 AM	Treatment of Genetic Disease
	David Valle, M.D. Professor of Genetic Medicine and Director, Institute of Genetic Medicine Johns 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 Pediatrics Children's Hospital of Philadelphia
11:40 AM	Course Wrap Up
	Janet Rossant, CC, PhD, FRS, FRSC Senior Scientist & Chief of Research Emeritus Peter 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

Speakers

Travel Information

Attendees will be responsible for their own travel and lodging arrangements for the duration of this event.

Lodging
Travel

For area information and additional lodging options: Bar Harbor Chamber of Commerce

LOCAL TRAVEL INFORMATION:

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:

Hancock County/Bar Harbor Airport (BHB)
Bangor Airport (BGR) - Recommended

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.

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Event Contact

Erin McDevitt, B.S.

People

Supporters

Howard Hughes Medical Institute

The National Institute of Child Health and Development - Grant HD007306