53rd Annual Short Course on Medical and Experimental Mammalian Genetics

This two-week course includes daily lectures in the mornings and evenings supplemented by afternoon mini-symposia, workshops, tutorials, poster session, and demonstrations. 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 exciting experience for all. Although the course schedule is quite full, there is time set aside to enjoy the natural beauties of Mt. Desert Island.

The content of the annual Short Course focuses on (1) an up-to-date presentation of genetics in experimental animals and humans, (2) the relationship of heredity to disease in experimental animals and humans, and (3) 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 an implicit focus on translational biology and clinical applications.
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January 18, 2012
                                           
53
rd
Annual Short Course on  
Medical and Experimental Mammalian Genetics
July 15 – July 27, 2012
DRAFT EVENT SCHEDULE
For more information, please contact Erin McDevitt; erin.mcdevitt@jax.org                     
Sunday, July 15
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
4:00‐6:00pm    Registration     
Monday, July 16
Location:  The Jackson Laboratory, 600 Main Street
7:30‐ 8:10am    Late Registration and Continental Breakfast 2
January 18, 2012
8:10‐8:20am    Overview of Course Evaluations
      Brian Doore, University of Maine       
8:20‐8:30am    Welcome
      Edison Liu, M.D., The Jackson Laboratory
8:30 ‐ 9:25am   History of Human Genetics
      David Valle, M.D., Johns Hopkins University
   
9:25 – 10:15 am The Evolution of Mouse Genetics: Past, Present and Future
      Ken Paigen, Ph.D., The Jackson Laboratory
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area     
        
10:45‐11:40am Chromosomes in Gametogenesis and in Cell Division
      Christa Martin, Ph.D., Emory University School of Medicine
11:40‐12:30pm Chromosome Structure and Function
Lindsay Shopland, Ph.D., The Jackson Laboratory
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area   
        
1:30 – 2:30pm Molecular Genetics
      John A. Phillips, III, M.D., Vanderbilt University School
       of Medicine
2:30‐3:30pm    Introduction to Bioinformatics
Carol Bult, Ph.D., The Jackson Laboratory and  
Ada Hamosh, M.D., Johns Hopkins University School of Medicine  
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm TBD
   
Tuesday, July 17
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am    Massively Parallel Sequencing: Technologies and Applications
      Elaine Mardis, Ph.D., The Genome Institute Washington University 3
January 18, 2012
9:25‐10:15am    Transcriptional Regulation of Gene Expression
      Andrew S. McCallion, Ph.D., Johns Hopkins University
School of Medicine
10:15‐10:45am Break ‐ Roscoe’s Dining Area     
(GROUP PHOTO)
10:45‐11:40am Post‐transcriptional Control of Gene Expression
      Harry C. Dietz, M.D., The Johns Hopkins University  
School of Medicine
11:40‐12:30pm MicroRNAs in Normal Physiology and Disease
      Joshua T. Mendell, M.D., Ph.D., UT Southwestern Medical Center  
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area         
1:30 ‐2:30pm    Mendelian Inheritance in Humans
      Clair Francomano, M.D., Harvey Institute for Human Genetics
       
2:30 – 3:30pm   Mice as Models for Human Diseases
      Patsy Nishina, Ph.D., The Jackson Laboratory
       
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm    Nature and Consequences of Mutations
      Stylianos E. Antonarakis, M.D., Ph.D., University of Geneva
Medical School
Wednesday, July 18
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am    Genetics of Obesity and Type II Diabetes
Jürgen Naggert, Ph.D., The Jackson Laboratory
9:25‐10:15am From Galton to GWAS: what have we learned about the genetics
of complex traits?
      Peter Visscher, Ph.D., Queensland Institute of Medical Research
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area 4
January 18, 2012
10:45‐11:40am Epigenetics
      Andrew Feinberg, M.D., MPH, Johns Hopkins University
11:40‐12:30pm Transcriptional Responses to Hypoxia and Ischemia
      Gregg Semenza, M.D., Ph.D., Johns Hopkins University
School of Medicine
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
1:30 – 3:30pm   Bioinformatics
      Carol Bult, Ph.D., The Jackson Laboratory
Poster Session   
Location:  Bar Harbor Regency Hotel – Ballroom, 123 Eden Street
5:30‐7:30pm    Poster Session
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm TBD
Jeffrey Friedman, M.D., Ph.D., The Rockefeller University  
Thursday, July 19
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am    Population Genetics Genomics
      Aravinda Chakravarti, Ph.D., The Johns Hopkins University  
School of Medicine
9:25‐10:15am    The 1000 Genomes Project
      Aravinda Chakravarti, Ph.D., The Johns Hopkins University  
School of Medicine
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area 5
January 18, 2012
10:45‐11:40am Methods for Linkage & Association Studies
Don Arking, Ph.D., The Johns Hopkins University School of
Medicine  
11:40‐12:30pm Genes for common Cardiovascular Disease
Don Arking, Ph.D., The Johns Hopkins University School of
Medicine  
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
1:30‐3:30pm    Genetic Analysis of Complex Traits I
Aravinda Chakravarti, Ph.D. and Don Arking, Ph.D, The Johns
Hopkins University School of Medicine
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm    Mouse Models of Cancer Predisposition
      Allan Balmain, Ph.D., FRSE, UCSF Comprehensive Cancer Center
Friday, July 20
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am     Genetic Epidemiology of Breast and Ovarian Cancer
Lawrence C. Brody, Ph.D., National Human Genome  
Research Institute
9:25‐10:15am    Cancer biology exposed by large‐scale sequencing
      Victor Velculescu, M.D., Ph.D., The Johns Hopkins University  
      School of Medicine
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area
10:45‐11:40am CNVs in Mice
Charles Lee, Ph.D., Brigham and Women’s Hospital/Harvard
Medical School
10:45‐11:40am   Proteomics
      Steven Gygi, Ph.D., Harvard Medical School
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area 6
January 18, 2012
1:30 – 3:30pm   Bioinformatics
      Carol Bult, Ph.D., The Jackson Laboratory
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm    Chen K. Chai Lecture
      Harold Varmus, M.D., National Cancer Institute
Saturday, July 21
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am     Complex Traits in Mice
      Gary Churchill, Ph.D., The Jackson Laboratory
9:25‐10:15am Influence of Selection on Populations
Andrew Clark, Ph.D., Cornell University
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area
10:45‐11:40am African Genomics:  Implications for Studies of Human Evolution  
      and Disease
                 Sarah Tishkoff, Ph.D., University of Pennsylvania
     
11:40 – 12:30 pm Pecking at the Origin of Natural Variation:  Insights from    
      Darwin’s Finches and Other Birds
    Arhat Abzhanov, Ph.D., Harvard University
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
     
12:30‐2:30pm    BBQ ‐ Roscoe’s Dining Area
   
Sunday, July 22
No Scheduled Course Events 7
January 18, 2012
Monday, July 23  
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am     The Major Histocompatibility Complex in Health and Disease
      Derry Roopenian, Ph.D., The Jackson Laboratory
9:25 ‐10:15 am Genetics of Autoimmunity
    David Serreze, Ph.D., The Jackson Laboratory
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area
10:45‐11:40am Inflammatory Response
TBD
11:40 – 12:30pm Genetics of Infectious Diseases
      Steven M. Holland, M.D., National Institutes of Health
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
1:30 – 2:30pm   Inborn Errors of Metabolism
      David Valle, M.D., Johns Hopkins University
School of Medicine
2:30‐3:30pm    Workshop: Methods of Molecular Genetics
John A. Phillips, III, M.D., Vanderbilt University School of Medicine
and Jürgen Naggert, Ph.D., The Jackson Laboratory
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm    Lessons Learned from Genomics and Gene Regulation
      Eddy Rubin, M.D., Ph.D., Joint Genome Institute, Lawrence   
      Berkeley National Laboratory
Tuesday, July 24  
   
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area 8
January 18, 2012
8:30‐9:25am    Changing the Future for Down syndrome
Roger Reeves, Ph.D., Johns Hopkins University
School of Medicine
9:25 ‐10:15 am Pulmonary Hypertension
      John A. Phillips, III, M.D., Vanderbilt University School
       of Medicine
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area
10:45‐11:40am DNA Forensics
      Phillip Reilly, M.D., J.D., Venture Partner at Third Rock Ventures
11:40‐12:30    Metabolism in Cancer
      TBD
   
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
1:30 – 3:30pm   Bioinformatics
      Carol Bult, Ph.D., The Jackson Laboratory
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm    Nature + Nurture = NAFLD
      Genes, Environment and Nonalcoholic Fatty Liver Disease
      Helen Hobbs, M.D., UT Southwestern Medical Center  
Wednesday, July 25
   
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am    Genetic Modifiers of CF
      Garry R. Cutting, M.D., Johns Hopkins University  
School of Medicine
9:25‐10:15am Molecular Bases of Malformation Syndromes
David Fitzpatrick, M.D., FRCD(Edin), Medical Research Council
Human Genetics Unit 9
January 18, 2012
10:15 ‐10:45am Break  ‐ Roscoe’s Dining Area
   
10:45‐11:40am Pharmacogenomics: Development, Science and Translation
      Richard M. Weinshilboum, M.D., Mayo Clinic  
11:40‐12:30pm Genomic Analysis of Cancer
Edison Liu, M.D., The Jackson Laboratory  
   
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
Human Genetics Clinic (Selected Participants and Invited Guests )
Ada Hamosh, M.D., M.P.H., Johns Hopkins University School of Medicine
12:30‐2:00pm    Lunch – Eden Restaurant  
2:00‐4:00pm    Human Genetics Clinic Presentations
      Ada Hamosh, M.D., M.P.H., Johns Hopkins University School of  
      Medicine
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm    Senior Lecture
      Maynard Olson, Ph.D., University of Washington
Thursday, July 26
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25 am    Treatment of Genetic Disease
      David Valle, M.D., Johns Hopkins University
School of Medicine
9:25 – 10:15am TGFbeta Signaling and Marfan Syndrome
      Harry C. Dietz, B.S.E., M.D., Johns Hopkins University
School of Medicine 10
January 18, 2012
10:15‐10:25 a.m. Description of the Mouse Clinic
      Leah Rae Donahue, Ph.D., The Jackson Laboratory
10:25‐10:45am Break  ‐ Roscoe’s Dining Area
10:45am‐11:40pm Biomedical Ethics in Genomics
Eric Juengst, Ph.D., UNC School of Medicine
11:40‐12:30pm Telomeres and Age‐related Disease
      Mary Armanios, M.D., Johns Hopkins University School of    
      Medicine
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
2:00‐3:30pm    Mouse Genetics Clinic
      Leah Rae Donahue, Ph.D., The Jackson Laboratory
The Jackson Laboratory – Tent in Visitor Parking Lot
Lab Tours
      (Departing from Under the Tent every 15 minutes)
Evening Lecture
Location:  Bar Harbor Regency Hotel – Stone House, 123 Eden Street  
7:30‐9:00pm    ELSI Case Studies
      Ada Hamosh, M.D.
      Clair A. Francomano, M.D.
      John Phillips, III, M.D.
      Eric Juengst, Ph.D.
Friday, July 27
Location:  The Jackson Laboratory, 600 Main Street
7:45 ‐ 8:25am    Continental Breakfast  ‐ Roscoe’s Dining Area
8:30‐9:25am    Prenatal Diagnosis and Screening
      Laird G. Jackson, M.D., Drexel University College of Medicine
9:25‐10:15am Reawakening Fetal Hemoglobin for Therapy: An Old Problem
with New Prospects
      Stuart Orkin, M.D., Harvard Stem Cell Institute  
10:25‐10:45am Break  ‐ Roscoe’s Dining Area 11
January 18, 2012
10:45‐11:40am Gene Therapy for Genetic Disease
      Kathy High, M.D., The Children’s Hospital of Philadelphia
11:40‐12:30pm Course Wrap Up – Senior Lecturer  
Maynard Olson, Ph.D., University of Washington
12:30‐1:30pm    Lunch  ‐ Roscoe’s Dining Area
End of the course

15 Jul - 27 Jul 2012

Bar Harbor
United States of America
meeting website