Batten Disease: 2017 Update of Translational Research for Management of INCL/LINCL

Wednesday, November 29th / Day 1
12-1:00 / Lunch
Welcome and Opening Remarks
1:00-1:10 / Jill Weimer, PhD & Chris Dainiak, MD
Background on CLN1 and CLN2 Batten Disease:
Session Chair: Jill Weimer, PhD
1:10-1:35 / Jonathan Mink, MD, PhD
“Characteristics, Natural History, and Medical Management of CLN1 and CLN2 diseases”
1:35-2:00 / Jon Cooper, PhD
“Pathological and behavioral phenotypes of CLN1 and CLN2 disease”
2:00-2:25 / Sandra Hofmann, MD, PhD
“Preclinical models for CLN1 Disease”
2:25-2:50 / David Sleat, PhD
“Mouse models for LINCL and their use in therapy development.”
2:50-3:00 / Coffee Break
Newborn Screenings
Session Chair: Margie Frazier
3:00-3:30 / Maria Escolar, MD
“Developing Biomarkers that predict Neurological onset after newborn screening”
3:30-4:00 / Kathryn D. Swoboda, MD, FACMG
“Newborn Screening for Neuronal Ceroid Lipofuscinosis (NCL)”
4:00-4:30 / Nicole Miller, PhD
4:30-5:00 / Michael Gelb, PhD
“Newborn screening for Lysosomal Storage Diseases Including CLN1 and CLN2”
5:00-6:00 / Discussion and Next Steps
6:30-8:30 / Conference Dinner (Provided)
Thursday, November 30th / Day 2
8:00-8:30 / Breakfast
Small Molecules and Other Approaches
Session Chair: Mark Sands, PhD
8:30-9:00 / Antti Nurmi, PhD
“Use of Translational Technologies in Understanding Animal Model Phenotypes”
9:00-9:30 / Sean Ekins, PhD, DSc
“Starting rare disease companies”
9:30-10:00 / Robert Selliah, PhD
“When Diseases are not Profitable- Expediting the Drug Discovery R&D Process in Childhood Rare Diseases Towards #Meds4Kids”
10:00-10:15 / Coffee Break
Stem Cells
Session Chair: Jon Cooper, PhD
10:15-10:45 / Kristin Page, MD
“Augmentation of Allogenic Cord Blood (CB) Transplantation for Inherited Metabolic Diseases with a CB-derived Cell-therapy Product, DUOC-01”
10:45-11:15 / Kevin Francis, PhD
“Modeling rare neurological disorders with induced pluripotent stem cells”
11:15-12:00 / Lunch Break
Gene Therapy
Session Chair: Sandra Hofmann, MD, PhD
12:00-12:30 / Mark Sands, PhD
“More Effective Gene Therapy and Palliative Care for INCL”
12:30-1:00 / Tim Miller, PhD& Erik A. Lykken, PhD
“Clinical Gene Therapy for Lysosomal Storage Disorders”
1:00-1:30 / Kathrin Meyer, PhD
“Intrathecal AAV9 gene therapy for CLN6 caused Batten Disease”
1:30-2:00 / Coffee Break
DNA/RNA Modulation in the NCLs
Session Chair: David Sleat, PhD
2:00-2:30 / Michel Roberge, PhD
“Premature termination codon readthrough compounds”
2:30-3:00 / Lulu Huang, PhD
“Targeting nonsense mutations with antisense oligonucleotides”
3:00-3:30 / Michelle Hastings, PhD
“Targeting RNA Modulation for the Treatment of Batten Disease”
Clinical Integration
3:30-4:00 / Erika Augustine, MD
“Considerations for development and implementation of novel therapies for patients with CLN1 and CLN2 disease”
Closing Remarks