• Rare Disease Desert Symposium 2018


The Rare Disease Desert Symposium will officially kick off at 1pm MST on Monday, February 26th, with registration at Icagen-T in Tucson, AZ. Attendees coming from the east or west coast of the US will be able to travel that morning, as there are several early flight options to both Tucson and Phoenix. Alternatively, attendees can arrive Sunday, February 25th, and spend Monday morning at Icagen-T for a guided site tour.

Please note the following agenda is in Mountain Standard Time (MST).

Day 1: Monday, February 26, 2018

1:00pm Registration
2:00pm Welcome and Opening Remarks
Ken Wertman, Ph.D., SVP and Site Director, Icagen

Keynote Address

Prof. Louis Kunkel
Professor of Pediatrics, Dept. of Genetics, Harvard University

"Duchenne Muscular Dystrophy: 30 years post dystrophin"

Session 1
Muscular Dystrophies 1: DMD
Paul August, Ph.D., VP, Biology, Icagen (Chair)
3:00pm Laurie Conklin, M.D.
Director, Clinical Programs, ReveraGen Biopharma, and Assistant Professor of Pediatrics at George Washington University School of Medicine

"Context of use and fit for purpose: Integration of pharmacodynamic biomarkers into the vamorolone clinical program"
3:30pm Coffee & Networking Break
4:00pm Prof. Andy Berglund
Department of Biochemistry and Molecular Biology, Center for NeuroGenetics, University of Florida

"Exploiting a chink in the armor of myotonic dystrophy to develop novel therapeutic compounds"
4:30pm Prof. Rita Perlingeiro
Cardiovascular Division, University of Minnesota; Lillehei Professor in Stem Cell and Regenerative Cardiovascular Medicine, Lillehei Heart Institute

"Pluripotent Stem Cells in DMD: Potential for Cell Therapy, Disease Modelling, and Drug Discovery"
5:00pm Dr. Sue Shackleton
Dept. of Molecular and Cell Biology, University of Leicester, UK

"The missing LINC between the nuclear envelope and rare myopathies"
5:30pm Dr. Jane Larkindale
Executive Director, Duchenne Regulatory Science Consortium (D-RSC), Critical Path Institute

"Data Sharing and Development of Drug Development Tools through the Duchenne Regulatory Science Consortium (D-RSC) to Accelerate Drug Development"
5:50pm Closing Remarks
Doug Krafte, Ph.D., Chief Scientific Officer, Icagen
6:00pm Dinner Reception
Hilton Tucson El Conquistador

Day 2: Tuesday, February 27, 2018

8:00am Continental Breakfast & Registration
8:20am Opening Remarks
Emily Kamer-Golinkoff, Co-Founder of Emily's Entourage
8:30am Keynote Address
Dr. Richard Gregory, Chief Scientific Officer, ImmunoGen

Rare Disease – From Monogenic Diseases to Cancer"
Session 2
Muscular Dystrophies 2: FSHD & EDMD
Prof. Michael Kyba (Chair)
9:15am Angela Cacace, Ph.D.
Vice President, Biology, Fulcrum Therapeutics

"Balancing Gene Regulation in an Era of Precision Medicine: FXS and FSHD"
9:45am Prof. Michael Kyba
Lillehei Endowed Scholar, Carrie Ramey / CCRF Endowed Professor in Pediatric Cancer Research, Department of Pediatrics

"FSHD: Disease models and prospects for therapy"
10:15am Peter L. Jones, PhD
Mick Hitchcock, PhD Endowed Chair in Medical Biochemistry, Associate Professor of Pharmacology, Center for Molecular Medicine, University of Nevada, Reno School of Medicine

"Targeting FSHD epigenetics for diagnostics and therapy"
10:45am Coffee & Networking Break
Session 3
Other Rare Diseases
(Chair TBA)
11:00am Dr. Brady Maher
Lead Investigator at the Lieber Institute for Brain Development, Johns Hopkins University

"Identification and validation of SCN10a/Nav1.8 as a therapeutic target for Pitt Hopkins Syndrome"

Dr. Robert Ring
CEO, Vencerx

"'The Autisms': Reconceptualizing autism as a rare disease space"

12:00am Dr. Christopher VanDeusen
President and co-Founder, Omdana Therapeutics

"Understanding the Relaxin Pathway and its impact on Pulmonary Hypertension"
12:30pm Lunch Break & Posters
Session 4
Prof. Justin Ichida (Chair)
2:00pm Prof. Justin Ichida
Stem Cell & Regenerative Medicine, Keck School of Medicine, University of Southern California

"Identification of Therapeutic Targets for ALS and FTD Using Phenotypic Screens on Patient-derived Models"
2:30pm Rita Sattler, PhD.
Associate Professor of Neurobiology and Neurology, Barrow Neurological Institute, Dignity Health, St. Joseph's Hospital and Medical Center

"Patient-derived induced pluripotent stem cells to study mechanisms of disease in ALS/FTD"
3:00pm Evangelos Kiskinis, PhD.
Assistant Professor of Neurology & Physiology
Director Stem Cell Core Facility
Northwestern University Feinberg School of Medicine

"Using iPSCs to Study the Development and Function of Human Motor Neurons in Health and Disease"
3:30pm Coffee Break
Session 5
Cystic Fibrosis
Martin Mense, Ph.D. (Chair)
4:00pm Prof. Robert Bridges
Physiology and Biophysics, Chicago Medical School

"Advancing the search for epithelial ion channel modulators"
4:30pm Dr. Martin Mense
Vice President for Drug Discovery, Cystic Fibrosis Foundation Therapeutics

"Beyond CFTR F508del – Research at the CFFT Lab"
5:00pm Dr. Tim Young
Research Fellow at Vertex

"Developing medicines for all people with CF"
5:30pm Close of Symposium and Closing Remarks
Richie Cunningham, CEO, Icagen
6:00pm Reception on deck at Icagen-T for those remaining
Rare Disease Desert Symposium 2018

FEBRUARY 26-27, 2018

Icagen-T Inc.
2090 E. Innovation Park Drive
Tucson, AZ 85755
+1 520-544-6800



Muscular Dystrophy Association

Muscular Dystrophy Association


ALS Arizona Chapter

ALS Association Arizona Chapter


FSH Society

FSH Society


Emily's Entourage

Emily's Entourage