North Carolina Medical Genetics Association (NCMGA) Fall 2011 Meeting The North Carolina Medical Genetics Association (NCMGA) aims: • To promote the provision of quality and comprehensive genetic services to the citizens of North Carolina. • To promote sharing of information and continuing education for our membership. • To advocate for genetic education. Please join us for the Fall 2011 NCMGA Meeting on October 21, 2011 to discuss current information about a wide range of emerging issues and trends in the field of medical, molecular, biochemical, and cytogenetics (agenda enclosed.) Intended Audience The Fall 2011 NCMGA Meeting is open to all who wish to learn more about clinical applications of medical genetics and genomics including physicians, researchers, genetic counselors, nurses, other allied health professionals and students. Location All plenary presentations will take place in the ground floor auditorium of Hock Plaza at Duke University. Hock Plaza is located at 2424 Erwin Road; Durham NC 27705. Parking and driving directions are enclosed. Parking in the visitor’s parking lot is $1.00 per hour, or maximum of $6.00 per day. Some parking is available at Hock Plaza for those requiring closer access. Please contact Rachel Mills (r.mills@duke.edu) if you are interested in parking at Hock. Registration and Fees The membership fee for 2012 is $25, and the meeting registration fee is $15. Breakfast, lunch, and snacks will be provided. For genetic counselors who wish to obtain CEUs, the fee is $25. Please be prepared to pay by one check. Advance notification of registration is requested. Please contact Rachel Mills (r.mills@duke.edu) to reserve your place by Friday October 14, 2011. On-site registration is possible; however, lunch may not be available to those who register on-site. Business and Subcommittee Meetings There will be appointed times for both the NCMGA-wide business meeting, as well as specialty-focused subcommittee meetings. Please contact current President Randi Stewart (rlculp@uncg.edu) to submit agenda items for these sessions. Continuing Education Units The application for approval of CEUs has been submitted to NSCG for genetic counselors, and approval for up to 4.5 contact hours (0.5 CEUs) is expected. The fee for receiving CEUs is $25. You will not be required to write a separate check for CEUs. North Carolina Medical Genetics Association NCMGA, October 21th, 2011 Duke Univeristy Medical Center Hock Plaza Auditorium Fall 2011 North Carolina Medical Genetics Association Meeting Duke University Medical Center, Durham, NC Agenda 8:00-9:00 Registration Open/Continental Breakfast 9:00 Welcome 9:15-9:45 Adjunctive therapy in Pompe Disease improves efficacy from enzyme replacement therapy Dwight Koeberl, MD, PhD – Associate Professor of Pediatrics, Division of Medical Genetics, Duke University Medical Center 9:45-10:15 A Pilot Study of Parents Receiving Genetic Counseling After A Prenatal Diagnosis of Down syndrome Kathryn Sheets, MS – Department of Pediatrics, Duke University Medical Center Blythe Crissman, MS, CGC – Department of Pediatrics, Duke University Medical Center 10:15-10:30 Break 10:30-11:30 KEYNOTE: Cleft and Craniofacial Surgery Jeffrey Marcus, MD, FAAP, FACS – Associate Professor of Surgery and Pediatrics, Duke University Medical Center; Director, Duke Cleft and Craniofacial Program 11:30-12:00 NCMGA Business Meeting 12:00 Lunch/NCMGA subcommittee meetings 1:00-2:30 Mini-symposium: Genomic testing 1:00-1:45 Genetic counseling for multiple complex common diseases- SNP based risk assessment Shannon Kieran, MS, CGC – Director of Genomic Services, Navigenics Inc 1:45-2:30 Whole genome sequencing to diagnose unexplained genetic conditions David Goldstein, PhD – Professor, Department of Biology; Director, Duke Center for Genome Variation 2:30-2:45 Break 2:45-3:15 The Initial IMPACT of IMPACT Jacquelyn Powers, MS, CGC – Abramson Cancer Center, University of Pennsylvania 3:15-3:45 Licensure of Genetic Counselors Michelle Burch, BS – 2nd year Genetic Counseling Student, University of North Carolina at Greensboro 3:45 Evaluations and Adjournment North Carolina Medical Genetics Association Driving Directions to Duke University Visitor Parking (Research Drive Deck, 2351 Erwin Rd): - Directions from Points West (Asheville, Charlotte, Greensboro): Take I-40 East Take I-85 North at the 40/85 split to Durham Take exit 172 to NC 147 S toward Durham/RTP/Downtown, go about 2.5 miles Take exit 15B for Fulton St Turn right onto Fulton St Turn right at the second light onto Erwin Rd The Duke Eye Center Parking deck will be on the left (2351 Erwin Rd, Durham, NC) - Directions from Points East (Raleigh, Greenville, Wilmington): Take I-40 West Take exit 279B to NC 147 N toward Durham/Downtown, go about 9.5 miles Take exit 15B for Fulton St Turn left onto Fulton St Turn right at the second light onto Erwin Rd The Duke Eye Center Parking deck will be on the left - Directions from Points South (Chapel Hill): Take US 15-501 North toward Durham US 15-501 will split to Business 15-501; stay to the right toward Downtown Durham Take exit 107 for NC 751 S/Cameron Blvd Take the first left onto Erwin Rd The Duke Eye Center Parking deck will be on the right just past Research Drive. This deck is located across Erwin Rd from Hock Plaza. Parking will cost $1.00 per hour or $6.00 for the entire day. Some parking is available at Hock Plaza for individuals requiring closer access. If you require parking at Hock, please contact Rachel Mills (r.mills@duke.edu). North Carolina Medical Genetics Association