The 5th Annual Sanford Rare Disease Symposium will take place on February 26-27, 2015 in Sioux Falls, SD. The two-day event is organized by Coordination of Rare Diseases at Sanford and Sanford Children's Health Research Center to honor Global Rare Disease Day. The agenda includes presentations on rare neurological disorders, alpha one antitrypsin, Canada's approach to rare diseases, neurofibromatosis type 1, congenital vertebral malformations, unlocking answers for rare disease families and researchers, a porcine model of ataxia-telangiectasia, and undergraduate research on rare diseases. The goal of the symposium is to discover, inspire, and grow knowledge about rare

1. 5TH ANNUAL
Sanford
Rare Disease
Symposium
DISCOVER.INSPIRE.GROW.
February 26-27, 2015
Sanford Center
Sioux 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 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
Friday, February 27
7:30 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 Center
2301 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.
N.LewisAve
E. 54th St. N.
E. 52nd St. N
N.CliffAve
E. Benson Rd
E. 57th St N.
EXIT 9
E. 60th St. N
EXIT 400
EXIT 399
Sanford Center
2301 East 60th Street,
Sioux Falls, SD 57104
Sanford Center
2301 East 60th Street
Sioux Falls, SD 57104
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019059-00078Rev.2/15

2. 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.