5TH ANNUAL Sanford Rare Disease Symposium

DISCOVER. INSPIRE. GROW.

February 26-27, 2015Sanford CenterSioux Falls, SD

About the Symposium: You’re Invited to the Fifth Annual Sanford Rare Disease Symposium, a two-day event organized by the Coordination of Rare Diseases at Sanford (CoRDS) and Sanford Children’s Health Research Center in honor of Global Rare Disease Day

Thursday, February 265:30 p.m. Expanding the Boundaries of Genomic Medicine: One Family’s Journey with a Rare Neurological Disorder and Their Quest for Answers

Friday, February 277:30 a.m.–3:15 p.m. Sanford Rare Disease Symposium

7:30 a.m.–11:30 a.m. Dakota Room

11:30 a.m.–3:15 p.m. Coyote Room

Registration: No cost to attend. Pre-registration required by February 20, 2015.

Register online at sanfordresearch.org Keyword: Rare Disease Symposium

Questions? Email cords@sanfordhealth.org or call (605) 312-6413.

Location: Sanford Center2301 E. 60th Street N.Sioux Falls, SD 57104

Please park in the South lot and enter the building at the Southeast door (near the globe). See map below for directions.

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Sanford Center2301 East 60th Street,Sioux Falls, SD 57104

Sanford Center 2301 East 60th Street Sioux Falls, SD 57104

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Agenda: Thursday, February 26

5:30 p.m. Expanding the Boundaries of Genomic Medicine: One Family’s Journey with a Rare Neurological Disorder and Their Quest for Answers – Brenda Barry, MS, CGC Genetic Counselor and Research Specialist, Christopher A. Walsh Laboratory, Stephanie Tellinghuisen Patient Advocate, Tea, SD

Friday, February 27

7:30 a.m. Event Registration/Breakfast

8 a.m. Welcome Address

8:15 a.m. Noncanonical Functions of Alpha One Antitrypsin –Irina Petrache, MD Calvin English Professor of Medicine, Biochemistry, and Molecular Biology, Division of Pulmonary, Occupational, Critical Care, & Sleep Medicine, Indiana University School of Medicine

9 a.m. Canada’s Path Forward for Rare Diseases: Discovery to Translation –Kym Boycott, PhD, MD, FRCPC, FCCMG Clinician Scientist, Children’s Hospital of Eastern Ontario, Associate Professor, University of Ottawa

9:45 a.m. Break 10 a.m. Neurofibromatosis Type 1: A Long

Crusade –David Viskochil, MD, PhD Professor of Pediatrics, University of Utah Health Care

10:45 a.m. Straightening Out the Spine: Understanding the Genetic and Environmental Contributions for Congenital Vertebral Malformations –Philip F. Giampietro, MD, PhD Professor of Pediatrics, University of Wisconsin School of Medicine and Public Health

11:30 a.m. Lunch and Vendor Booths Open

12:30 p.m. Unlocking the Brain: Seeking Answers for Families and Researchers in the Exome Age –Brenda Barry, MS, CGC Genetic Counselor and Research Specialist, Christopher A. Walsh Laboratory

1:15 p.m. A Porcine Model of Ataxia-Telangiectasia Reveals Early Cerebellar Lesions and a Network of Altered Gait Components –Rosanna Beraldi, PhD Staff Scientist, Sanford Research

2 p.m. Break

2:15 p.m. Social Ventures: Putting Undergraduates at the Frontier of Scientific Discovery in Rare and Neglected Diseases –Kasturi Haldar, PhD Julius Nieuwland Professor of Biological Sciences, Parsons-Quinn Director, Boler-Parseghian Center for Rare and Neglected Diseases, University of Notre Dame

3 p.m. Closing Remarks

DISCOVER. INSPIRE. GROW.