Diagnostic Dilemmas Session Announcement
February 7, 2008
The
Diagnostic Dilemmas (Unknowns and Rare Knowns) Session will be held on
Saturday, March 15, from 6:00 pm – 7:30 pm. As in past years, attendees
will have an opportunity to bring cases to the attention of a panel of experts
and an audience of geneticists for discussion of differential diagnosis,
treatment and counseling options. Participants are also encouraged to submit
reports of rare known disorders.
Sessions & Events
Schedule, topics and speaker updates will be made here on a regular basis — the final schedule will be available in the on-site Program & Abstracts
Wednesday, March 12, 2008
To register for the workshop online go to www.cap.org and then click on the Education Programs tab, then click Laboratory Accreditation Program Education Activities, then click on Specialty Seminars. - he program being offered at the ACMG meeting will be listed on the next page. You can also register by phone by calling (800) 323-4040 ext. 7525.
This activity is intended for medical technologists, laboratory supervisors/managers, pathologists or experienced pathology residents preparing to conduct an on-site CAP/LAP laboratory inspection. Through lecture and inspection-based scenario activities, this course will provide participants with the information, tools, and techniques to complete a successful laboratory inspection.
Accreditation:
The College of American Pathologists (CAP) is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.
CME Category 1: The CAP designates this educational activity for a maximum of 5.0 AMA PRA Category 1 Credits™. Physicians should only claim credit commensurate with the extent of their participation in the activity.
CE (Continuing Education for non-physicians): The CAP designates this educational activity for a maximum of 5.0 credits/hours of continuing education. Each participant should only claim those credits/hours he/she spent in the educational activity.
This activity is acceptable to meet the continuing education requirements for the ASCP Board of Registry Continuing Competence Recognition Program.
This activity is approved for continuing education credit in the states of California and Florida.
The Information Highway: Bumps in the Road for Public Health Genetics?
Speakers to be announced
Red Blood Cell and Platelet Characterization by Genotype Analysis
Supported by an Educational Grant from Sequenom
Introduction to RBC and Platelet Characterization by Genotype Analysis
Dan Bellissimo, PhD, FACMG, Blood Center of Wisconsin, Milwaukee, WI
RBC and Platelet Genotyping: From Current Practice to Future High Throughput Donor Typing
Ellen van der Schoot, MD, PhD, Sanquin Research, Amsterdam, the Netherlands
Non-invasive Prenatal RHD Testing: First Hand Experience
Stephen A. Brown, MD, University of Vermont, College of Medicine, Burlington, VT
Clinical Importance of Fetal RHD Characterization in High Risk Pregnancies
Kenneth J. Moise, MD, Texas Children's Fetal Center, Houston, TX
Thursday, March 13, 2008
Urea Cycle Disorders: Best Practices and New Developments
Supported by an Educational Grant from Hyperion Therapeutics, Inc.
Accreditation: This activity has been planned and
implemented in accordance with the Essential Areas and Policies of the
Accreditation Council for Continuing Medical Education (ACCME) through the
joint sponsorship of CME Consultants and Faulkner Medical Education. CME
Consultants is accredited by the ACCME to provide continuing medical education
for physicians, by the American Nurse’s Credentialing Center’s Commission
(ANCC) on Accreditation to provide continuing nursing education, and by the
Accreditation Council on Pharmaceutical Education (ACPE) to provide continuing
education for pharmacists. CME
Consultants designates this educational activity for a maximum of 1.5 credits.
Physicians should only claim credit commensurate with the extent of their participation
in the activity.
Speakers: Brendan Lee, MD, PhD, FACMG, Baylor College of Medicine and
Howard Hughes Medical Institute, Houston, TX
Gregory Enns, MD, Stanford University Medical Center, Stanford, CA
Pharmacological Chaperones: Recent Results from Clinical Trials in Lysosomal Storage Diseases
Supported by an Educational Grant from Amicus Therapeutics
Moderator: Marc C. Patterson, MD, Mayo Clinic, Rochester, MN
Speakers: Prof. Roberto Giugliani, MD, PhD, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, Rua Ramiro Barcelos, Brazil
Neal Weinreb, MD, University Research Foundation for Lysosomal Storage
Diseases, Coral Springs, FL
Building the Evidence Base for Genetics and Newborn Screening: Long Term Follow-up and Data Collection
An NICHD/ORD/NIH Sponsored Workshop
Moderator: Michael S. Watson, PhD, FACMG, American College of Medical Genetics, Bethesda, MD
Inborn Errors of
Metabolism Information System: Region IV Genetics Collaborative Priority
Project
Susan A Berry , MD,
FACMG, University of Minnesota, Minneapolis, MN
The Muscular Dystrophy Association and
Duchenne Research Collaborative International: International Registries and
Associated Translational Research
Valerie Cwik, MD, Muscular
Dystrophy Association, Tucson, AZ
The Muscular Dystrophy Association and
Duchenne Research Collaborative International: A Web-based Research
Clearinghouse
Sharon Hesterlee,
PhD, Muscular Dystrophy Association, Tucson, AZ
Universal Newborn
Screening for Krabbe Disease: The New York
Experience
Patricia K. Duffner,
MD, Children’s Hospital, Buffalo, NY
Disorders of the Cilium and the Centrosome: Nephrons, Neurons, and Networks
Moderator: Ian A. Glass, MBChB, MD, FRCP, FRACP, FACMG, University of Washington School of Medicine, Seattle, WA
The Ciliopathies: Unifying Diverse Clinical Entities into a Single Molecular Entity
Nicholas Katsanis, PhD, Johns Hopkins University School of Medicine, Baltimore, MD
Disorders of Left-Right Asymmetry: Cardiac Heterotaxias and Situs Inversus Martina Brueckner, MD, Yale University School of Medicine, New Haven, CT
The Spectrum of Fibrocystic Diseases of The Kidneys and the Liver: Autosomal Dominant and Recessive Polycystic Kidney Diseases, and Other Syndromes Associated with Congenital Hepatic Fibrosis and/or Polycystic Kidneys
Meral Gunay-Aygun, MD, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD
Joubert Syndrome and Related Cerebello-Oculo-Renal Syndromes: The Molar Tooth Sign and More
Melissa A. Parisi, MD, PhD, FACMG University of Washington, Seattle, WA
Meckel-Gruber Syndrome: Causative Genes and Clinical Features
A. Micheil Innes, MD, FRCPC, FCCMG, Alberta Children's Hospital, Calgary, Canada
Making Sense of Cilia: Bardet-Biedl Syndrome and Other Ciliopathies
Philip L. Beales, BSc, MRCS, MD, MRCP, UCL Institute of Child Health, London, United Kingdom
Novel Mechanisms of Nuclear Gene Mutations and Expanding Clinical Features of Pediatric Mitochondrial Disorders
Moderator: Fernando Scaglia, MD, FACMG, Baylor College of Medicine and Texas Children's Hospital, Houston, TX
Introduction: Role of Nuclear Genes in Mitochondrial Dysfunction and Pathogenesis Fernando Scaglia, MD, FACMG, Baylor College of Medicine and Texas Children's Hospital, Houston, TX
Mutations in Assembly Genes Leading to Respiratory Chain Dysfunction and Diverse Clinical Phenotypes
Eric Shoubridge, PhD, McGill University, Montreal, Quebec, Canada
Pediatric Liver Dysfunction Caused by Mitochondrial DNA Depletion
Lee-Jun Wong, PhD, FACMG, Baylor College of Medicine, Houston, TX
Coenzyme Q10 Deficiency and the Modifier Effects of Nuclear Genes on the Mitochondrial Respiratory Chain
Michio Hirano, MD, Columbia University Medical Center, New York, NY
Mitochondrial Defects Caused by Novel Nuclear Gene Mutations: Disorders Associated with Altered Mitochondrial Gene Expression
William J. Craigen, MD, PhD, Baylor College of Medicine,Houston, TX
Screening for Duchenne Muscular Dystrophy: What's the Best Age?
Moderator: Paul Fernhoff, MD, FAAP, FACMG, Emory University, Decatur GA
Duchenne Muscular Dystrophy: A Review of the Natural History of the Disease and the Current and Investigational Treatments that Might Alter its Course
Chris Shilling, MS, The Research Institute at Nationwide Children's Hospital, Columbus, OH
A Novel Approach to DMD Screening: Detection of Dystrophin Gene Mutations from Dried Blood Spots
Robert B. Weiss, PhD, University of Utah School of Medicine, Salt Lake City, UT
Screening for Duchenne Muscular Dystrophy in Newborn Males
Roula al-Dahhak, MD, The Research Institute at Nationwide Children's Hospital, Columbus, OH
Screening for Duchenne Muscular Dystrophy in Infant Males Aged 6-15 Months
Sharon Quary, MS, Emory University, Decatur GA
Ethical Considerations in Screening for Duchenne Muscular Dystrophy
Lainie Friedman Ross, MD, PhD, MacLean Center for Clinical Medical Ethics at the University of Chicago, Chicago, IL
The Dawning of Pharmacogenetics in Clinical Practice
Moderator: Annette K. Taylor, MS, PhD, FACMG, Kimball Genetics, Inc.,Denver, CO
Personalized Medicine is Gaining Momentum
as a Transforming Force in Healthcare
Annette K. Taylor, MS, PhD, FACMG, Kimball Genetics, Inc., Denver, CO
Matching Medicines to Genetic Makeup in Oncology: Team Science
Howard L. McLeod, PharmD, UNC Institute for Pharmacogenomics and Individualized Therapy, Chapel Hill, NC
Pharmacogenetics and www.WarfarinDosing.org
Brian F. Gage, MD, MSc, Washington University School of Medicine, St. Louis, MO
The Role of Regulatory Science in Advancing Individualized Therapy
Lawrence J. Lesko, PhD, FCP, Center for Drug Evaluation and Research/FDA/HHS, Silver Springs, MD
Integrating
Pharmacogenetic Testing into Drug Therapy:
The Promise of Healthcare Savings as Well as Improvements
Mara G. Aspinall, Genzyme Genetics, Westborough, MA
Genetics of Cholesterol Disorders
Moderator(s): Forbes D. (Denny) Porter, MD, PhD, NICHD, NIH - Section of Molecular Dysmorphology, Heritable Disorders Branch, Bethesda, MD
K. M. Gibson, PhD, FACMG, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA
Newborn Screening for Sterol and Bile Acid Disorders
Robert D. Steiner, MD, FACMG, Oregon Health & Science University, Portland, OR
Genetics of Pre-Squalene Cholesterol Disorders
K. M. Gibson, PhD, FACMG, Mayo Clinic, Rochester, MN
Genetics of Post-Squalene Cholesterol Disorders
Forbes D. (Denny) Porter, MD, PhD, NICHD, NIH - Section of Molecular Dysmorphology, Heritable Disorders Branch, Bethesda, MD
Genetics of Cholesterol Transport Defects
Marc C. Patterson, MD, FRACP, Columbia University Medical Center, New York, NY
Presidential Plenary Session: ACMG 2008: Our Place in Organized Medicine
Moderator: Joe Leigh Simpson, MD, FACMG, Florida International University, College of Medicine, Miami, FL
Presidential Address: Why ACMG Needs
Organized Medicine
What Does the AMA Represent and How Does it Function
Ronald M. Davis, MD, President - American Medical Association
What Role Does the ACMG Play in AMA and Where
Would Medical Geneticists be Without the AMA
Raymond Lewandowski, MD, FACMG, CPSST - Driscoll Genetics Services, Corpus Christi, TX
ACMG Activities in AMA and Other Medical Organizations
Michael S. Watson, PhD, FACMG, American College of Medical Genetics,
Bethesda, MD
Friday, March 14, 2008
10:00am - 10:30am Morning Refreshment Break
10:30am - 11:30am Poster Session 1 (Poster Presenters of odd numbered posters will be at their posters)
11:30am - 12:00pm Exhibit Theaters
12:00pm - 1:00pm Concession Lunch available for purchase
12:00pm - 12:30pm Exhibit Theaters
12:30pm - 1:00pm Exhibit Theaters
3:15 pm - 3:45 pm Afternoon Refreshment Break
The Metamorphosis of Cytogenetics: Old Questions Elucidated by New Technologies
Moderator: Stuart Schwartz, PhD, FACMG, University of Chicago, Chicago, IL
Welcome and Introductions
Michael Katz , MD, March of Dimes, White Plains, NY
Pruzansky Lecture: Cytogenetics, Past and Future, and its Impact on the Evolution of Medical Genetics
Malcom A. Ferguson-Smith, FRS, University of Cambridge, Cambridge UK
Segregation of Translocations and Inversions in Human Sperm
Renee H. Martin, MD, University of Calgary, Calgary, Alberta, Canada
BREAK - 3:15pm - 3:45pm (In Exhibit Hall)
Utilization of Chromosomal Rearrangements to Elucidate Developmental Genes
Cynthia C. Morton, PhD, FACMG, Brigham & Women's Hospital, Boston, MA
The Complexity and Formation of Chromosomal Rearrangements
Stuart Schwartz, PhD, FACMG, University of Chicago, Chicago, IL
Normal Variations in Humans and its Impact on Clinical Cytogenetics
Evan E. Eichler, PhD, University of Washington, Seattle, WA
The ACMG Foundation Donor Recognition Reception is by invitation only.
Saturday, March 15, 2008
Emerging Insight and Therapeutic Guidance to Optimize PKU Outcomes
Supported by an Educational Grant from BioMarin Pharmaceutical Inc.
Accreditation: The France Foundation will award
up to 1.5 AMA PRA Category 1 Credits™
or the equivalent for activity participation.
Controlling Phe Levels: Current and Emerging PKU Treatment Options
Hans C. Andersson, MD, FACMG, Tulane School of Medicine, New Orleans, LA
Striking a Balance: Helping Patients Achieve Long-Term Dietary and Drug Response
Heather Bausell, RD, LDN, Children's Memorial Hospital, Chicago, IL
The Latest Treatment Experiences and Patient Outcomes Data
Jerry Vockley, MD, PhD, FACMG, Children's Hospital of Pittsburgh, Pittsburgh, PA
Filling the Void: New Frontiers in the Treatment of Mucopolysaccharidoses
Supported by an Educational Grant from Shire HGT
Accreditation: Professional Resources in Management Education, Inc. (PRIME®)
designates this educational activity for a maximum of 1.5 AMA PRA
Category 1 Credit™. Physicians should only claim
credit commensurate with the extent of their participation in the
activity. AMA PRA Category 1 Credit is a trademark of the American
Medical Association. PRIME® is accredited by the Accreditation
Council for Continuing Medical Education to provide continuing medical
education for physicians. Professional
Resources in Management Education, Inc. (PRIME®) has applied for
continuing education units through the ABGC and up to 1.5 contact clock hours
of continuing education will be offered.
Moderator: William Wilcox, MD, PhD, FACMG, Cedars-Sinai Medical Center, Los Angeles, CA
Revealing the Face of the MPS: Diagnosis, Complications, and Treatment
Patricia I. Dickson, MD, Harbor-UCLA Medical Center, Torrance, CA
Predicting the Future in the MPS: What, When and How of Patient Assessments
Maria L. Escolar, MD, MD University of North Carolina, Chapel Hill, NC
Highlights in Medical Genetics – Bench Research Informing Human Therapies
Moderator: Lynne M. Bird, MD, FACMG, Children's Hospital & Health Center, San Diego, CA
Drosophila Fragile X Model: Insight and Applications
Stephen T. Warren , PhD, Emory University School of Medicine, Atlanta, GA
Alglucosidase alfa:
One Small Step for Patients with Pompe, One Giant Leap
for Neuromuscular
Diseases
Priya Kishnani, MD, FACMG, Duke University Medical Center, Durham, NC
10:00am - 10:30am - Morning Refreshment Break
10:30am - 11:30am - Poster Session 2 (Poster Presenters of even numbered posters will be at their posters)
11:30am - 12:00pm - Exhibit Theaters
12:00pm - 1:00pm - Concession Lunch available for purchase
12:00pm - 12:30pm - Exhibit Theaters
12:30pm - 1:00pm - Exhibit Theaters
Genetics and the Media
Wayne W. Grody, MD, PhD, FACMG, UCLA School of Medicine, Los Angeles, CA
How does the presentation of genetics in the media impact
our genetic counseling practice? Does media exposure have a positive influence
on patients? How does the portrayal of genetics in entertainment media (movies,
television shows) differ from the reporting of real genetics practice in the
news media? What can we do as a profession to promote both the field and the
public’s impression of genetics? The ACMG Genetic Counselors Forum will address
these issues and offer some practical advice for our interactions with the
media. Guest speakers will include media
professionals as well as geneticists who have worked with the media.
Preimplantation Genetic Diagnosis
Moderator: Yuri Verlinsky, PhD, Reproductive Genetics Institute, Chicago, IL
Blastomere versus Polar Body Biopsy: Advantages and Disadvantages of Each Approach
Yuri Verlinsky, PhD, Reproductive Genetics Institute, Chicago, IL
PGD for Mendelian Disorders and for Selection of HLA Compatible Embryos
Svetlana Rechitsky, PhD, Reproductive Genetics Institute, Chicago, IL
Safe and Efficacious PGD Requires Proper Embryo Biopsy and Diagnosis
Santiago Munné, PhD, Reprogenetics, Livingston, NJ
Metabolic Approaches to Neurologic Problems in Childhood: Seizures, Movement Disorders and Neurodegenerative Diseases
Moderator: Carol L. Greene , MD, FACMG, University of Maryland School of Medicine, Baltimore, MD
Metabolic Causes of Infantile Seizures
Johan L. van Hove, MD, PhD, The Children's Hospital/University of Colorado Health Sciences Center, Aurora, CO
Movement Disorders and Neurotransmitter Disturbances
Kathryn J. Swoboda, MD, PhD, FACMG, University of Utah School of Medicine, Salt Lake City, UT
Neurodegenerative Diseases: The Leukodystrophies
Adeline L. Vanderver, MD, Children's National Medical Center, Washington, DC
Neurodegenerative Disorders With Normal White Matter
S. Lane Rutledge, MD, University of Alabama at Birmingham, Birmingham, AL
Cardinal Signs of Select Syndromes
Moderator: Helga V. Toriello, PhD, FACMG, Spectrum Health, Grand Rapids MI
Deletion 1p36 Syndrome
Leah W. Burke, MD, FACMG, Vermont Regional Genetics Center, Burlington, VT
Coffin-Lowry Syndrome
Darrel J. Waggoner, MD, FACMG, University of Chicago, Chicago, IL
Hallerman-Streiff Syndrome
Angela E. Scheuerle, MD, FACMG, Tesserae Genetics, Dallas, TX
Ohdo Syndrome
Louanne Hudgins, MD, FACMG, Stanford University, Stanford, CA
Schinzel-Giedion Syndrome
David J. Aughton, MD, FACMG, William Beaumont Hospital, Royal Oak, MI
Donnai-Barrow Syndrome
Barbara R. Pober, MD, FACMG, Massachusetts General Children's Hospital, Boston, MA
Sunday, March 16, 2008
The Role of MicroRNAS in Health and Disease
Moderator: Leslie J. Krueger, PhD, FACMG, Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE
The Role of MicroRNAS in Health and Disease
Scott M. Hammond, PhD, University of North Carolina, Chapel Hill, NC
MicroRNA Function in Stem Cells
Hannele Ruohola-Baker, PhD, University of Washington, Seattle, WA
MicroRNAs and Cancer Pathways
Peter S. Linsley, PhD, Rosetta Inpharmatics, LLC, Seattle, WA
Small RNA and Gene Activation
Long-Cheng Li, MD, University of California, San Francisco, San Francisco, CA
New Genetic Complexities: Is there a Road Map to Patient Care?
Michele Lloyd-Puryear, MD, PhD, Health Resources and Services Administration, Rockville, MD
Straightening out the Curves: Understanding the Genetic Basis of Idiopathic and Congenital Scoliosis
Moderator: Kenro Kusumi, PhD, Arizona State University, Tempe, AZ, and The University of Arizona College of Medicine - Phoenix in Partnership with Arizona State University, Phoenix, AZ
Development of the Spine and Vertebral/Segmentation Disorders
Olivier Pourquie, PhD, Howard Hughes Medical Institute and Stowers Institute for Medical Research, Kansas City, MO
Classification of Syndromic and Non-Syndromic Vertebral Disorders
Philip F. Giampietro, MD, PhD, FACMG, Marshfield Clinic, Marshfield, WI
Molecular Analysis of Spondylothoracic Dysplasia Pedigrees in the Puerto Rican Population
Alberto Santiago Cornier, MD, PhD, Ponce School of Medicine, Ponce, PR
Congenital Scoliosis and Kyphosis
Benjamin Alman, MD, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada
Clinical Genetics and Classification of Idiopathic Scoliosis
Nancy Hadley Miller, MD, University of Colorado Denver Health Sciences Center and The Children's Hospital of Denver, Denver, CO
CHD7 Gene Polymorphisms Associated with Susceptibility to Idiopathic Scoliosis
Carol A. Wise, PhD, Texas Scottish Rite Hospital for Children, Dallas, TX
Markers for Genetic Risk in Complex Common Diseases
Moderator: Michael A. Zoccoli, PhD, Celera, Alameda, CA
Cirrhosis Risk Score
Ramsey Cheung, MD, Stanford University, Palo Alto, CA
Diabetes Risk Score
Michael N. Weedon, PhD, Peninsula Medical School, St. Luke's Campus, Exeter, United Kingdom
FDA Perspective of Multiplex Assays
Courtney C. Harper, PD., FDA-CDRH, OIVD, Rockville, MD
Laboratory Perspective of Multiplex Assays
Andrea Ferreira-Gonzalez, PhD, Virginia Commonwealth University, Richmond, VA
Public Health Assessment of Genetic Testing
Linda A. Bradley, PhD, FACMG, Centers for Disease Control and Prevention - National Office of Public Health Genomics, Atlanta, GA
The Genetics of Autism: Where We are Now and Where We Need to Be
Moderators: Gail E. Herman, MD, PhD, FACMG, The Research Institute at Nationwide Children's Hospital, Columbus, OH
Joe Leigh Simpson, MD, FACMG, Florida International University College of Medicine, Miami, FL
Introduction to the Basics of Autism Spectrum Disorders
Elaine Tierney, MD, Kennedy Krieger Institute, Baltimore, MD
The Genetics of Autism: Challenges for Researchers
James S. Sutcliffe, PhD, Vanderbilt University School of Medicine, Nashville TN
Epigenetics and Autism: What's the Connection?
Janine M. LaSalle, PhD, University of California, Davis School of Medicine, Davis, CA
Genetic Evaluation of the Child with Isolated Autism
Gail E. Herman, MD, PhD, FACMG, The Research Institute at Nationwide Children's Hospital, Columbus, OH
Questions and Discussion
Closing Remarks
Joe Leigh Simpson, MD, FACMG, Florida International University College of Medicine, Miami, FL
