SOUTHEASTERN Regional Genetics Group™, Inc (SERGG)

2006 Meeting Program Schedule

SOUTHEASTERN REGIONAL GENETICS GROUP, Inc™
SERGG, Inc™
ANNUAL MEETING

September 28 – September 30, 2006
Emory Conference Center Hotel
Atlanta, GA

Hosted by the Department of Human Genetics Emory University
In cooperation with the Center for Continuing Education Tulane University Health Sciences Center

Special Pre-Conference Workshop on HRSA Regional Genetics and Newborn Screening Network

Thursday, September 28, 2006
9:00 – 5:00 pm Registration – Ballroom Foyer

9:00 – 12:00 pm Laboratory Performance Workgroup Meeting - Basswood

12:00 – 1:00 pm IT Collaborative Training Session - Dogwood

1:00 – 5:30 pm HRSA Plenary Session – Salon III - V

1:00 – 2:00 pm          Welcome and Update on the HRSA Grant Initiative
                                  David H. Ledbetter, PhD
                                  Jill Shuger, HRSA
                                  Michael Watson, National Coordinating Center

2:00 – 3:15 pm          Reports from Workgroups
                                  2:00 – 2:15 pm            Laboratory Performance – Tom Hickey, PhD
                                  2:15 – 2:45 pm            Emergency Preparedness – Hans Andersson, MD
                                  2:45 – 3:00 pm            Telecommunications – Hans Andersson, MD
                                  3:00 – 3:15 pm            Nutrition/Long-term Intervention – Rani Singh, PhD

3:15 – 3:45 pm Break

3:45 – 4:15 pm          Progress Reports for 2005 Mini-grant Awardees
                                  3:45 – 3:55 pm            Catherine Tesla, MS
                                  3:55 – 4:05 pm            TaraChandra Narumanchi, MD
                                  4:05 – 4:15 pm            Mittie Moffett, RN, MS

4:15 – 5:10 pm          Presentation from Mini-grant Awardees
                                  4:20 – 4:30 pm            Deborah Barbouth, MD
                                  4:30 – 4:40 pm            Dianne Frazier, PhD
                                  4:40 – 4:50 pm            Carmen Lozzio, MD
                                  4:50 – 5:00 pm            Mittie Moffett, RN, MS
                                  5:00 – 5:10 pm            Chunli Yu, MD

5:10 – 5:30 pm Future Directions

5:30 – 7:00 pm Lysosomal Workgroup Meeting - Dogwood

SERGG™ ANNUAL MEETING

Thursday, September 28, 2006

6:00 – 8:00 pm Welcome Reception – Emory Break Area and Hickory
Sponsored by the Exhibitors and Sponsors

Friday, September 29, 2006

7:00 – 8:00 am Board of Directors Breakfast Meeting – Drawing Room

8:00 – 5:00 pm Registration – Emory Foyer

7:00 – 8:00 am Continental Breakfast and Vendor Exhibits – Emory Break Area and Hickory

8:00 – 3:15 pm Plenary Session – Emory Amphitheatre

8:00 – 8:15 am Welcome/Announcements
Jess Thoene, MD, President

8:15 – 9:45 am Platform Session 1 – Dawn Laney, MS, Moderator

8:15 – 8:30 am           “Quality assurance program for cystic fibrosis: IRT and DNA; the good
                                    and the BAAAAAD”
                                    Joanne Mei, PhD
                                    Centers for Disease Control and Prevention

8:30 – 8:45 am           “Implementation of a pilot NBS program for Duchenne muscular dystrophy
                                    in Ohio”
                                    Natalie Street, MS
                                    Centers for Disease Control and Prevention

8:45 – 9:00 am            “An optional screening program for Duchenne muscular dystrophy for
                                    healthy infant boys ages 6 to 12 months – what do parents want to
                                    know before deciding to have their son screened?”
                                    Sharon Quary, MS
                                    Emory University

9:00 – 9:15 am            “A pilot survey of laboratories that perform Duchenne muscular
                                    dystrophy screening tests”
                                    Elizabeth McCown
                                    Centers for Disease Control

9:15 – 9:30 am           “Tyrosine results in MS/MS Newborn Screening: the highs and lows”
                                    Dianne Frazier, PhD
                                    University of North Carolina – Chapel Hill

9:30- 9:45 am              “Primary care physicians’ attitudes regarding follow-up care for children
                                    with a positive newborn screen”
                                    Alex Kemper, MD
                                    Duke University

9:45 – 10:15 am Break – Emory Break Area and Hickory

10:15 – 11:00 am        Invited Speaker
                                    “Tiling-path genomic microarrays; applications in research and diagnostics”
                                    Jan P. Dumanski, PhD.
                                    Professor of Genetics
                                    University of Alabama at Birmingham

11:00 – 12:00 pm Platform Session 2 – Lora H Bean, PhD, Moderator

11:00 – 11:15 am       “A direct PCR-based method to identify the 4 base pair promoter deletion
                                    associated with Duarte galactosemia”
                                    Rebecca Sanders, MS
                                    Emory University

11:15 – 11:30 am        “Routine testing for α~5.0 kb deletion of the galactose-1-phosphate
                                    uridyl transferase gene in galactosemia”
                                    Bradford Coffee, PhD
                                    Emory University

11:30 - 11:45 am         “Common leukemia-associated genetic alterations are present in healthy
                                    individuals: silent micro-mosaicism or latent predisposition?”
                                    Danielle Mercer, MS
                                    Tulane University

11:45 – 12:00 pm      “Clinical molecular and biochemical testing for Maple Syrup Urine Disease”
                                   Lora Bean, PhD
                                   Emory University

12:00 – 1:45 pm          SERGG Business Meeting and Lunch
                                    Lunch sponsored in part by Abbott Laboratories

1:45 – 2:30 pm            Invited Speaker
                                    “Molecular basis of fragile X syndrome reveals therapeutic approaches”
                                    Steven T. Warren, PhD
                                    Chair, Department of Human Genetics
                                    Emory University School of Medicine

2:30 – 3:15 pm            Platform Session 3 – Christa Lese Martin, PhD, Moderator

2:30 – 2:45 pm           “Pathogenic duplication or variant: molecular cytogenetic discrimination of
                                    proximal 15q and 8p23.1 as models”
                                    Jiyun Lee, PhD
                                    Emory University

2:45 – 3:00 pm           “Combined phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann
                                    syndromes in a female with er(4)(4;11)(pter;pter)”
                                    Achara Sathienkijkanchai, PhD
                                    University of Alabama at Birmingham

3:00 – 3:15 pm            “Molecular mapping of small marker chromosomes using unique                                     pericentromeric fish clones “
                                    Erin Baldwin, PhD
                                    Emory University

3:15 – 3:45 pm            Break – Emory Break Area and Hickory
                                    Sponsored in part by Agilent

4:00 – 5:30 pm            Breakout Sessions
                                                Molecular/Cytogenetics – Lora Bean, PhD and David Ledbetter, PhD
                                                Emory University – Mountain Laurel
                                                Biochemical/Nutrition – Hans Andersson, MD, Tulane University and
                                                   Rani H. Singh, PhD, RD, Emory University - Basswood
                                                Clinical/Ethical – Dawn Laney, MS, Emory University and Mary Kay
                                                   Pelias, PhD, JD - Dogwood
                                                Public Health – Lois Taylor, RN, BSN, CPM, Florida NBS Program -
                                                   Azalea

5:30 – 6:30 pm            NF Consortium Meeting – Bruce Korf, MD, PhD – Emory Amphitheatre
                                    University of Alabama at Birmingham

7:00 – 11:00 pm Dinner and Entertainment – Silverbell Pavillion

Saturday, September 30, 2006

8:00 – 9:00 am Board of Directors Breakfast Meeting – Drawing Room

7:30 – 8:30 am Continental Breakfast – Vendor Exhibits – Emory Break Area and Hickory Sponsored in part by PerkinElmer

9:00 – 12:00 pm          Plenary Session – Emory Amphitheatre

9:00 – 9:45 am            Invited Speaker
                                    “Injection of AAV-IGF-1 to the CNS improves motor function and extends
                                    survival in a mouse model of amyotrophic lateral sclerosis“
                                    Jim Hodge, PhD
                                    Genzyme Therapeutics

9:45 – 10:45 am          Platform Session 4 – Lori Farmer, RN, MS, Moderator

9:45 – 10:00 am        “Characterization of a mild biochemical phenotype of galactosemia”
                                    Chunli Yu, MD
                                    Emory University

10:00 – 10:15 am       “Nutrient adequacy & compensation in females with phenylketonuria”
                                    Sarah Leatham Yi, MS
                                    Emory University

10:15 – 10:45 am        Break - Emory Break Area and Hickory

10:45 – 11:45 pm Platform Session 5 – Margaret Adam, MD, Moderator

10:45 – 11:00 am      “Tennessee child health profile (TN-CHP) for children with genetic disorders
                                    and developmental disabilities”
                                    Carmen Lozzio, MD
                                    University of Tennessee – Knoxville

11:00 – 11:15 am        “Fetus in fetu vs polymelia (a child with three legs)”
                                    TaraChandra Narumanchi, MD
                                    Tulane University

11:15 – 11:30 am        “Initial experience with hypertrophic cardiomyopathy”
                                    Dawn Pekarek , MD
                                    University of Alabama at Birmingham

11:30 – 11:45 am        “A case of maternal carnitine transporter deficiency identified through
                                    expanded newborn screening”
                                    Tim Wood, MD
                                    Greenwood Genetics Laboratory

11:45 – 12:00 pm Wrap-Up and Surprises
Jess Thoene, MD, President