DDC Clinic - Center for Special Needs Children
Translational Genomic Medicine in Plain Populations
August 15-16, 2014
Wolstein Building
Case Western Reserve University School of Medicine
2103 Cornell Road, Cleveland, OH 44106
CONFERENCE DESCRIPTION
DDC Clinic – Center for Special Needs Children and Case Western Reserve University School of Medicine are cosponsoring a conference to be held on August 15th and 16th to review the diagnosis, management, and treatment of genetic diseases in the Plain populations of North America. The objectives of the meeting are as follows:
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Discuss molecular genetic methods for diagnostics of rare disorders,
Describe the function and value community clinics and medical homes provide as advocated by AAP,
Explain the basic science underlying rare disorders and discuss the current state of translational
research.
The conference will be held in Cleveland, Ohio at Case Western Reserve University School of Medicine, in the
Wolstein Building, starting at 8:30 am on Friday, August 15 and will conclude on Saturday, August 16 by 4:50
pm.
This is a two-day overview course based on the premise that translational genetic research can improve the
quality of life for those with rare genetic disorders and also transform the everyday practice of pediatric medicine. The course will review a number of rare genetic disorders found in the Plain populations providing an
overview of emerging diagnostics and the natural history of select disorders. Faculty will also explicate the basic
science underlying a number of these conditions and highlight ongoing efforts in research and treatment.
A Special Thank You to Our Conference Supporters
DDC Clinic - Center for Special Needs Children wishes to thank Case Western Reserve University School of
Medicine for co-sponsoring this conference and Children’s Hospital of Pittsburgh of UPMC for underwriting
the Friday evening reception.
AGENDA
Translational Genomic Medicine in Plain Populations
FRIDAY, AUGUST 15, 2014 8:30 am – 1:30 pm
Building medical homes and the human capital to grow them: Establishing a vision for the future.
Learn about the work and current foci of several community-based clinics in plain communities and how each meets the American Academy of Pediatrics recommendations for establishing medical homes. This session honors the work of Dr. Holmes Morton and his wife Caroline and their legacy of
inspiring a network of community-based clinics for genetic and metabolic disorders to help the Plain community and communities beyond.
Session Chair: Dr. Holmes Morton, Co-Founder & Director, Clinic for Special Children, Lancaster, PA
8:30 am
Registration and Coffee
9:00 am
Overview – Past, Present and Future
Holmes Morton, MD
9:40 am
“To Cure Sometimes, to Relieve Often, to Comfort Always”
Heng Wang, MD, PhD
10:05 am
New Leaf Clinic
Olivia Wenger, MD
10:30 am
Community Health Clinic
Jared Beasley, RN, MBA
10:55 am
Session Break
11:15 am
Central PA Clinic, Belleville, PA
Holmes Morton, MD and Paul Morton
11:40 am
Update – Genetic Diagnosis in Plain Communities of Wisconsin
James DeLine, MD and Gretchen Spicer, CPM, LM
12:05 pm
Reflections on the First Year with Clinic for Special Children
Katie B. Williams, MD, PhD
12:30 pm
Lunch
FRIDAY, AUGUST 15, 2014 1:30 pm – 4:50 pm
How to become the local expert on rare genetic conditions in plain communities
We all can learn and become an expert! Through this session, we hope that each attendee can walk away with significant take-home knowledge that they
can use in their practice and daily work. The session will focus on the recognition and diagnosis of some rare syndromes, yet fairly common in some regions
or for some physicians. The speakers’ expertise and personal experiences will be highlighted in this session.
Session Chair: Dr. Heng Wang, Medical Director, DDC Clinic – Center for Special Needs Children
1:30 pm
To Be Your Local Expert - A General Pediatrician’s Story
Heng Wang, MD, PhD
2:00 pm
Pyruvate Kinase Deficiency
Holmes Morton, MD
2:30 pm
HARS and Several Other Genetic Conditions in Canada
Victoria Siu, MD
3:00 pm
Session Break
3:20 pm
Inherited Cardiomyopathies: Integrating Genetic Understanding to Clinical Management
Wilson Tang, MD
3:50 pm
Overview of Severe Combined Immunodeficiency in Plain Communities During the Era
of Newborn SCID Screening
Christine Seroogy, MD
4:20 pm
From a Low-Tech Country Clinic to a High-Tech Molecular Diagnostic Center
Baozhong Xin, PhD
6:00 pm
Reception at DDC Clinic – Center for Special Needs Children
Translational Genomic Medicine in Plain Populations
SATURDAY, AUGUST 16, 2014 8:30 am – 1:30 pm
Recent Developments in Cell and Molecular Biology in Selected Rare Genetic Disorders
The speakers in this session will provide updates of the most recent progress made from research laboratories in understanding several genetic diseases in
Plain communities.
Session Chair: Dr. Anthony Wynshaw-Boris, Professor & Chairman, Department of Genetics, School of Medicine, Case Western Reserve University
8:30 am
Coffee
8:40 am
Troyer Syndrome and Related Hereditary Spastic Paraplegias
Craig Blackstone, MD, PhD
9:10 am
Blending Translational Research Into the Undergraduate Curriculum to Enhance the Pace of Rare Disease Gene Discovery
Robert Jinks, PhD
9:40 am
Finding Rare Mutations in Diseases of Aging
Jonathan Haines, PhD
10:10 am
Chicken Breast Disease: A Lethal Myopathy Caused by a Troponin Mutation
J. - P. Jin, MD, PhD
10:40 am
Session Break
11:00 am
The Neurology Consultant in the Plain Community
Max Wiznitzer, MD
11:30 am
Panel Presentations – Unique Community-Based Programs, Services and How We Keep Them Affordable and Sustainable
12:30 pm
Lunch
SATURDAY, AUGUST 16, 2014 1:30 pm – 4:50 pm
Translational genomic medicine – challenges, opportunities and future directions
In this session speakers will focus on the ongoing work of a few challenging conditions in the plain community, particularly the progress made recently in
terms of translational medicine in these conditions. This session also presents some potential diagnostic and therapeutic approaches in genetic disease in
general and future directions.
Session Chair: Dr. Holmes Morton, Co-Founder & Director, Clinic for Special Children, Lancaster, PA
1:30 pm
Exome Sequencing in Clinical Practice
Erik Puffenburger, PhD
2:00 pm
Propionic Acidemia
Holmes Morton, MD
2:30 pm
GM3 Synthase Deficiency - A Potentially Treatable Disease?
Heng Wang, MD, PhD, JoAnn Brace, Qianayang Huang
3:00 pm
Session Break
3:20 pm
Newborn Metabolic and Molecular Screening
Edwin Naylor, PhD, MPH
3:50 pm
Liver Transplantation for Metabolic Disease
Rakesh Sindhi, MD
4:20 pm
iPSC Modeling of Human Genetic Diseases
Anthony Wynshaw-Boris, MD, PhD
Translational Genomic Medicine in Plain Populations
*Reception Friday, August 15, 2014 6:00 - 8:30 pm at
DDC Clinic - Center for Special Needs Children
14567 Madison Rd. Middlefield, OH 44062
Join us for an evening reception from 6:00 to 8:30 PM at DDC Clinic - Center for Special Needs Children.
Just 45 minutes east of metropolitan Cleveland, the center is located in rural Geauga County in the heart of the world’s
fourth largest Amish settlement. The clinic is the only LEED gold certified facility in the county and was created by a number of communities coming together - all sharing a common goal of supporting a sustainable facility for sustainable community medicine.
Enjoy cocktails and hors d’oeuvres with new friends and old and a tour of our facilities in picaresque Amish country while
learning more about DDC Clinic’s medical care, research, and clinical molecular genetics laboratory.
Motor coach transportation is available and will depart immediately following the conclusion of Friday’s CME sessions
and is expected to return guests back to Case Western Reserve University by 9:30 PM.
*Thank you to Children’s Hospital of Pittsburgh of UPMC Center for Rare Disease Therapy
for their support of this reception.
Translational Genomic Medicine in Plain Populations
Faculty
Jared Beasley, RN, MBA
Clinical Operations Director
The Community Health Clinic
Topeka, IN
Rakesh Sindhi, MD, FACS
Professor of Surgery
Co-Director, Pediatric Transplantation
University of Pittsburgh
Pittsburg, PA
Craig Blackstone, MD, PhD
Senior Investigator, Neurogenetics Branch, NINDS
National Institutes of Health
Bethesda, MD
Victoria Siu, MD
Scientist, Research & Development
Children’s Health Research Institute
London, Ontario, Canada
James DeLine, MD
LaFarge Medical Clinic
LaFarge, WI
Gretchen Spicer, CPM, LM
Local Delivery Midwifery Service
Avoca, Wi
Jonathan Haines, PhD
Mary W. Sheldon, MD, Professor of Genomic Sciences
Chair, Department of Epidemiology and Biostatistics
Director, Institute for Computational Biology
Case Western Reserve University School of Medicine
Cleveland, OH
W. H. Wilson Tang, MD, FACC, FAHA
Professor of Medicine, Cleveland Clinic Lerner College of Medicine at CWRU
Director, Cardiomyopathy Program, Kaufman Center for Heart Failure
Research Director, Section of Heart Failure and Cardiac Transplantation Medicine
Heart and Vascular Institute, Cleveland Clinic
Cleveland, OH
J. - P. Jin, MD, PhD
Professor and Chairman
Department of Physiology
Wayne State University School of Medicine
Detroit, MI
Heng Wang, MD, PhD
Medical Director,
DDC Clinic—Center for Special Needs Children
Middlefield, OH
Robert Jinks, PhD
Robert N. Jinks, Ph.D.
Professor of Neuroscience
Department of Biology
Biological Foundations of Behavior Program
Franklin & Marshall College
Lancaster, PA
Holmes Morton, MD
Co-Founder & Director
Clinic for Special Children
Lancaster, PA
Edwin Naylor, PhD, MPH
Adjunct Professor of Pediatrics (Genetics)
Medical University of South Carolina
Charleston, SC
Erik Puffenberger, PhD
Laboratory Director
Clinic for Special Children
Lancaster, PA
Christine Seroogy, MD, FAAAAI
Associate Professor
University of Wisconsin School of Medicine and Public Health
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
Madison, WI
Olivia Wenger, MD
New Leaf Clinic
Mt. Eaton, OH
Katie B. Williams, MD, PhD
Clinic for Special Children
Lancaster, PA
Max Wiznitzer, MD
Pediatric Neurology
University Hospitals Rainbow Babies and Children’s Hospital
Professor, Pediatrics, Case Western Reserve University School of Medicine
Cleveland, OH
Anthony Wynshaw-Boris, MD, PhD
James H. Jewell MD ‘34 Professor of Genetics
Chair, Department of Genetics and Genome Sciences
Case Western Reserve University School of Medicine
University Hospitals Case Medical Center
Cleveland, OH
Baozhong Xin, Phd
Senior Research Scientist
DDC Clinic for Special Needs Children
Middlefield , OH
DDC Clinic - Center for Special Needs Children
Translational Genomic Medicine in Plain Populations
August 15-16, 2014
Wolstein Building
Case Western Reserve University School of Medicine
2103 Cornell Road, Cleveland, OH 44106
REGISTRATION
Please print and complete registration form and send with check for fee to DDC Clinic - Center for Special Needs Children,
14567 Madison Rd. Middlefield, OH 44062 or visit the Clinic’s website at www.ddcclinic.org for registration and secure
credit card payment.
Name: _________________________________________________________________________________________
Degree: __________________________________________SSN (Last 4 Digits):______________________________
Address: _________________________________________City: _____________________State: _______Zip: _____
Phone Number: __________________________________________________________________________________
Email Address: __________________________________________________________________________________
Affiliation: ______________________________________________________________________________________
Conference Fees: (Speakers and Panelists will not be charged conference fees.)
Full Conference - Two Days: $190: _____
One Day
$100: _____
Please RSVP for the Friday evening reception at DDC Clinic - Center for Special Needs Children in Middlefield, OH.
Attending: _____ Yes, I would like motor coach transportation: _____
Regrets:
_____
CME ACCREDITATION STATEMENTS
Joint Providership Statement
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 Case Western Reserve University School of Medicine and DDC Clinic - Center for
Special Needs Children. Case Western Reserve University School of Medicine is accredited by the ACCME to provide continuing medical education
for physicians.
Case Western Reserve University School of Medicine designates this Live activity for a maximum of 12.75 AMA PRA Category 1 CreditsTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
Disclosure Statement
The policy of Case Western Reserve University School of Medicine CME Program requires that the Activity Director, planning committee members and
all activity faculty (that is, anyone in a position to control the content of the education activity) disclose to the activity participants all relevant financial
relationships with commercial interests. Disclosure will be made to activity participants prior to the commencement of the activity. Case Western Reserve University School of Medicine also requires that faculty make clinical recommendations based on the best available scientific evidence and that
faculty identify any discussion of “off-label” or investigational use of pharmaceutical products or medical devices.
Nursing Statement
The American Nurses Credentialing Center (ANCC) accepts AMA PRA Category 1 Credit TM toward recertification requirements.
Lodging Information
*Make sure to ask if there is a Case Western Reserve University special rate*
University Circle Locations
The Glidden House (less than a block from the George S. Dively Building)
1901 Ford Drive, Cleveland, Ohio 44106
Phone (216) 231-8900; (866) 812-4537; Fax (216) 231-2130
www.gliddenhouse.com
Located directly on campus. Bed and Breakfast; continental breakfast and parking included.
Courtyard by Marriott Cleveland University Circle
2021 Cornell Rd, Cleveland, Ohio 44106
Phone (216) 791-5678; (800) 321-2211; Fax (216) 791-5342
www.courtyard.com/CLECE
Courtyard Cleveland University hotel is close to many area businesses, art museums, shopping, dining, and is close to popular attractions
such as the Rock and Roll Hall of Fame and Little Italy. The hotel is also within walking distance to University Hospital and Case Western
Reserve University. Free wireless high speed internet and local phone calls. Courtyard Bistro, heated Pool and on site Fitness Center.
Cleveland Clinic Inter-Continental Suite Hotel
8800 Euclid Avenue, Cleveland, Ohio 44106
Phone (216) 707-4300; Fax (216) 707-4301
www.cleveland.interconti.com
Upscale comfort and convenience; full-service hotel; attached restaurant/lounge. Located on the Cleveland Clinic Foundation Campus
Inter-Continental Hotel & Conference Center Cleveland
9801 Carnegie Avenue, Cleveland, Ohio 44106
Phone (216) 707-4100 ; Fax (216) 707-4101
www.cleveland.interconti.com
The hotel offers 300 luxury guest rooms and 23 suites, with a number of special features that cater to the needs of the sophisticated clientele. The Club Inter-Continental floor, with a private lounge, 28 Club rooms and 2 corner suites, has the feel of a residence with butler
service.
Doubletree by Hilton/The Tudor Arms Hotel
10660 Carnegie Avenue
Cleveland, Ohio 44106
Phone (216) 455-1260
http://doubletree3.hilton.com/
University Circle area hotel offers close proximity to Cleveland Clinic and University Hospital and is also within walking distance of Case
Western Reserve University. Historic Tudor Arms building in the heart of Cleveland's East Side Cultural District. Hotel restaurant and bar,
fitness center, and complimentary high-speed internet access.
Downtown Locations: A 15-minute drive to campus
Embassy Suites Hotel Cleveland - Downtown
1701 E. 12th Street, Cleveland, Ohio 44114
Phone (216) 523-8000; Fax (216) 523-1698
www.embassy-suites.com
Holiday Inn Cleveland City Center Lakeshore
1111 Lakeside Avenue (& 12th), Cleveland, Ohio 44114
Phone (216) 241-5100; Fax (216) 241-7437
www.holiday-inn.com
Hotel provides easy access to downtown Cleveland; adjacent to the Galleria; restaurant, sports bar & lounge; indoor pool and exercise equipment; van transportation to the university campus; applicable daily parking rate.
Marriott Downtown at Key Center Hotel
127 Public Square, Cleveland, Ohio 44114
Phone (216) 696-9200 or 1-800-228-9290; Fax (216) 696-0966
www.marriott.com
Newly renovated guest rooms; restaurant and lounge; fitness center; located on Public Square across from Tower City Center; applicable fees for onsite parking; valet parking for a fee; coffee/tea in room; complimentary newspaper delivery
Renaissance Cleveland Hotel
24 Public Square, Cleveland, Ohio 44113
Phone (216) 696-5600; Fax (216) 696-0432
www.renaissancehotels.com
Restored Historic Hotel; complimentary newspaper and coffee with wake up call; indoor pool and health club; connects to the Avenue at Tower City; Rapid Transit to/from airport; applicable fees for onsite parking; valet parking available for a fee
Ritz Carlton Hotel
1515 West Third Street, Cleveland, Ohio 44113
Phone (216) 623-1300; Fax (216) 623-1492
www.ritzcarlton.com
Adjoining Terminal Tower and The Avenues at Tower City; Fitness Center available; elegantly appointed rooms. Rapid transit to/
from airport from Tower City; valet parking for a fee
Parking Information
Parking for the Wolstein Building is available in three locations (map included). There will be an attendant in the parking garage until 9:30 p.m.
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Health Sciences Parking Garage, located under the Biomedical Research Building. You can enter this garage
from both Circle Drive and Emergency Drive which is directly off of Cornell.
UH Drive Garage can be accessed from UH Drive just off of Euclid Ave.
Rainbow Babies and Children's Hospital Garage can be accessed from Adelbert Road.
Health Sciences Parking Garage is located under the Biomedical Research Building. From Euclid Avenue, head south on
Adelbert Road and proceed to the stop sign. Take a left on Circle Drive. The entrance is on your left. You may also continue to the next stop sign and take a left onto Cornell. Take the next left onto Emergency Drive. As you enter the garage, bear right for visitor parking. Walk out of the lot toward Emergency Drive. Continue to walk toward the main
street (this is Cornell). You will see the Wolstein Building directly across Cornell. At the end of Emergency Drive and
Cornell, you will cross at the pedestrian walkway and walk up to the Wolstein entrance.
Parking fees are not included in registration.
UH Drive
Garage
Wolstein
Building
Rainbows
Garage
Health &
Sciences
Garage