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6TH ANNUAL
Sanford
Rare Disease
Symposium
Discover.InspIre.Grow.
Feb. 26, 2016
Sanford Center
Sioux Falls, SD
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.
credits:
Sanford Health is accredited by the Accreditation Council
for Continuing Medical Education to provide continuing
medical education for physicians.
Sanford Health designates this live activity for a maximum
of 6.0 AMA PRA Category I Credits™
. Physicians should
claim only the credit commensurate with the extent of their
participation in the activity.
This event has been submitted to the National Society of
Genetic Counselors (NSGC) for approval of Category 1
CEUs. The American Board of Genetic Counseling
(ABGC) accepts CEUs approved by NSGC for purposes
of recertification. Approval for the requested CEUs and
Contact Hours is currently pending.
Sanford Health Center for Learning is an approved provider
of continuing nursing education by the Washington State
Nurses Association Continuing Education Approval &
Recognition Program (CEARP), an accredited approver by
the American Nurses Credentialing Center’s Commission
on Accreditation.
6.25 ANCC Contact Hour
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
«
019059-0029912/15
Discover.Inspire.Grow.
Agenda:
8:30 a.m.	Event Registration/Breakfast
8:45 a.m.	 Welcome Address
– David Pearce, PhD
President, Sanford Research Sanford
Health Senior Scientist, Children’s Health
Research Center Professor, Department
of Pediatrics, University of South Dakota
Sanford School of Medicine
9 a.m.	What the Patient Family-Physician-
Partnership Can Accomplish for Rare
Genetic Disorders: the Example of
Lowe Syndrome
– Robert Nussbaum, MD
Chief Medical Officer, Invitae Corporation
10 a.m.	 Assessing Gene Therapy Approached
for NPC1 Disease
– William Pavan, PhD
Director, NHGRI Intramural Training Office
11 a.m.	 Break
11:15 a.m. 	Complex Structural Variation in
Human Genomic Disorders
– Claudia Carvalho, PhD
Assistant Professor, Baylor College of Medicine
12:15 p.m.	 Lunch
1:15 p.m.	The Nuclear Envelope and
Rare Disease
– Howard Worman, MD
Professor of Medicine and Pathology and
Cell Biology, College of Physicians and
Surgeons, Columbia University
2:15 p.m.	 Rare Genetic Obesity Disorders:
Insights for Energy Balance in the
General Population
– Joan Han, MD
Director, Pediatric Obesity Program, Le
Bonheur Children’s Hospital Associate
Professor, Division of Pediatric
Endocrinology, Department of Pediatrics,
University of Tennessee Health Science
Center	
3:15 p.m.	 Break
3:30 p.m.	Translation of Gene Therapeutics
in Neuromuscular Disease
– Brian Kaspar, PhD
Associate Professor, Nationwide Children’s
Hospital, Ohio State University
4:30 p.m.	Closing Remarks
About the Symposium:
You’re invited to the Sixth Annual Sanford Rare
Disease Symposium, an 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
Friday, Feb. 26, 2016
Registration:
No cost to attend. Pre-registration required by
Feb. 19, 2016.
Register online at sanfordresearch.org
Keyword: Rare Disease Symposium
Questions? Email cords@sanfordhealth.org
or call (877) 658-9192.

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019059-00299 BROCHURE Sanford Rare Disease Symposium Invite 7_36x8_5

  • 1. 6TH ANNUAL Sanford Rare Disease Symposium Discover.InspIre.Grow. Feb. 26, 2016 Sanford Center Sioux Falls, SD 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. credits: Sanford Health is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. Sanford Health designates this live activity for a maximum of 6.0 AMA PRA Category I Credits™ . Physicians should claim only the credit commensurate with the extent of their participation in the activity. This event has been submitted to the National Society of Genetic Counselors (NSGC) for approval of Category 1 CEUs. The American Board of Genetic Counseling (ABGC) accepts CEUs approved by NSGC for purposes of recertification. Approval for the requested CEUs and Contact Hours is currently pending. Sanford Health Center for Learning is an approved provider of continuing nursing education by the Washington State Nurses Association Continuing Education Approval & Recognition Program (CEARP), an accredited approver by the American Nurses Credentialing Center’s Commission on Accreditation. 6.25 ANCC Contact Hour 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 « 019059-0029912/15
  • 2. Discover.Inspire.Grow. Agenda: 8:30 a.m. Event Registration/Breakfast 8:45 a.m. Welcome Address – David Pearce, PhD President, Sanford Research Sanford Health Senior Scientist, Children’s Health Research Center Professor, Department of Pediatrics, University of South Dakota Sanford School of Medicine 9 a.m. What the Patient Family-Physician- Partnership Can Accomplish for Rare Genetic Disorders: the Example of Lowe Syndrome – Robert Nussbaum, MD Chief Medical Officer, Invitae Corporation 10 a.m. Assessing Gene Therapy Approached for NPC1 Disease – William Pavan, PhD Director, NHGRI Intramural Training Office 11 a.m. Break 11:15 a.m. Complex Structural Variation in Human Genomic Disorders – Claudia Carvalho, PhD Assistant Professor, Baylor College of Medicine 12:15 p.m. Lunch 1:15 p.m. The Nuclear Envelope and Rare Disease – Howard Worman, MD Professor of Medicine and Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University 2:15 p.m. Rare Genetic Obesity Disorders: Insights for Energy Balance in the General Population – Joan Han, MD Director, Pediatric Obesity Program, Le Bonheur Children’s Hospital Associate Professor, Division of Pediatric Endocrinology, Department of Pediatrics, University of Tennessee Health Science Center 3:15 p.m. Break 3:30 p.m. Translation of Gene Therapeutics in Neuromuscular Disease – Brian Kaspar, PhD Associate Professor, Nationwide Children’s Hospital, Ohio State University 4:30 p.m. Closing Remarks About the Symposium: You’re invited to the Sixth Annual Sanford Rare Disease Symposium, an 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 Friday, Feb. 26, 2016 Registration: No cost to attend. Pre-registration required by Feb. 19, 2016. Register online at sanfordresearch.org Keyword: Rare Disease Symposium Questions? Email cords@sanfordhealth.org or call (877) 658-9192.