1:00 pm - 1:15pm

Introduction:
Rani Singh, PhD, RD, Project PI

1:15 pm – 1:45 pm

NCC Update
Michael Watson, PhD, FACMG, Director, NCC

1:45 pm – 2:00 pm

Medical Home
Alex Kemper, MD, MPH, Workgroup Chair
Cheryl Brewer, RN

2:00 pm – 2:15 pm

Transitioning
Susan Redmon, MPH, RN, Workgroup Chair

2:15 pm – 3:15 pm

Small Project updates:
2:15 pm – 2:45 pm
Georgia State Genetics Plan Development
Tricia Page, MS, Project Grantee 2007-08

2:45 pm – 3:15 pm
Maternal 3-MCC as a Model for Longterm Outcome
Dianne Frazier, PhD, RD, Project Grantee 2006-07

3:15 pm – 3:30 pm

Break

3:30 pm – 4:00 pm

Laboratory Performance
David Ledbetter, PhD, Workgroup Chair
Thomas Hickey, PhD, Workgroup Co-Chair
Tim Wood, PhD

4:00 pm – 4:30 pm

Emergency Management Tabletop Exercise
Hans Andersson, Workgroup Chair
Bill Perry, Consultant

4:30 pm – 5:00 pm

Long-Term Follow-Up Information System Business Model
Rani Singh, PhD, RD, Project PI
Dave Ross, ScD, PHII

5:00 pm – 5:30 pm

Region 3 Consumer Alliance
Mike McConnell, JD, Workgroup Chair
Kristen Vanags
Mike Singletary, JD

5:45 pm – 6:45 pm

Wine, Cheese and a Lecture – sponsored by BioMarin
“Kuvan™ - The first non-dietary treatment for Phenylketonuria”

8:15 am – 9:00 am

Invited Speaker
“The evolving phenotype and treatment of Rett syndrome”
Alan K Percy, MD
Professor of Pediatrics, University of Alabama at Birmingham

9:00 am – 9:30 am

“Phenotype and testing for MECP2 duplications and deletions”
Michael J Friez, PhD
Greenwood Genetic Center

9:30 am – 9:45 am

“Mutation analysis in PKU patients using high-resolution melt profiling and correlation with clinical and BH4-responsive data”
Edwin W Naylor, MD
Medical University of South Carolina

9:45 am – 10:00 am

“Reversal of glycogen storage disease type III related hypertrophic cardiomyopathy with high protein diet”
Aditi I Dagli, MD
University of Florida

10:00 am – 10:15 am

“Delineating Williams-Beuren Syndrome chromosomal region using high-density targeted array CGH”
Xiaofeng Hu, PhD
Tulane University School of Medicine

10:45 am – 11:30 am

Invited Speaker
“Pearls of dysmorphology – old and new”
Bryan D Hall, MD
Former Chief of Genetics and Dysmorphology, University of Kentucky

11:30 am – 11:45 am

“General pediatricians’ knowledge and experience of Fragile X Syndrome (FXS) and attitudes towards FXS screening”
Alex R Kemper, MD
Duke Clinical Research Institute

11:45 am – 12:00 pm

“Identifying barriers to genetic referrals:  How can we improve the services available to rural practice physicians who care for pediatric patients?”
Holly H Zimmerman, MS
University of Mississippi Medical Center

12:00 pm – 12:15 pm

“DuchenneConnect as a model for patient registries for genetic disorders”
Vanessa E Rangel Miller, MS
Emory University School of Medicine

2:00 pm – 2:45 pm

Invited Speaker
“History and new perspectives of X linked mental retardation”
Roger E Stevenson, MD
Director, Greenwood Genetic Center

2:45 pm – 3:15 pm

“Developing Nutritional Guidelines for MS/MS Newborn Screening Disorders"
Dianne Frazier, PhD, RD
University of North Carolina at Chapel Hill

3:15 pm – 3:45 pm

Afternoon Break

3:45 pm – 4:00 pm

“HRSA Sickle Cell Disease initiatives:  Newborn screening and treatment demonstration programs”
Joseph Telfair, DrPH, MSW, MPH
University of North Carolina at Greensboro

4:00 pm – 4:15 pm

“Eight-year clinical outcomes of enzyme replacement therapy in 884 children with type 1 Gaucher Disease”
Hans C Andersson, MD
Tulane University School of Medicine

4:15 pm – 4:30 pm

“Neurofibromatosis consortium and clinical trials for neurofibromatosis patients”
Christina Barger, MS
University of Alabama at Birmingham 

8:15 am – 9:00 am

Invited Speaker
“Towards genomic medicine at the Duke Institute for Genome Sciences & Policy”  
Huntington F Willard, PhD
Director, Institute for Genome Sciences and Policy, Duke University

9:00 am – 9:15 am

“Diagnosis of mucopolysaccharidosis type I using dried blood spot based enzyme activity assay”
Adviye A Tolun, PhD
Duke University Medical Center

9:15 am – 9:30 am

“Identification of two cases of mild glutaric aciduria type II (multiple ACYL CoA dehydrogenase deficiency) by South Carolina expanded newborn screening”
Laura M Pollard, PhD
Greenwood Genetic Center

9:30 am – 9:45 am

“MLL partial tandem duplications are present in cord blood samples”
Danielle D Mercer, MS
Tulane University School of Medicine

10:30 am – 10:45 am    

“High-resolution mapping of subtelomeric breakpoints”
Katie Rudd, PhD
Emory University School of Medicine

10:45 am – 11:00 am

“Creation of a centralized resource on legislation and coverage of medical foods (formula), modified low-protein foods, and dietary supplements in the southeast region”
Mary C Brauchla, MPH
Emory University School of Medicine

11:00 am – 11:15 am

“Microarray based testing for single and multi-exon deletion or duplication mutations”
Bradford W Coffee, PhD
Emory University School of Medicine

11:15 am – 11:30 am

“Heart health matters for DBMD carriers too:  A national study of cardiac care among females in families with Duchenne/Becker Muscular Dystrophy”
Aileen Kenneson, PhD
McKing Consulting Corporation

11:30 am – 11:45 am

“Application of array CGH in cytogenetics:  experience of the medical genetics group at the University of Miami”
Yao-Shan Fan, MD, PhD
University of Miami

11:45 am – 12:00 pm

“Intelligence testing in mucolipidosis”
Richard Simensen, PhD
Greenwood Genetic Center