Founded in 2021 as a non-profit, the N=1 Collaborative is dedicated to advancing the development of individualized medicines for ultra-rare diseases through a global collaborative platform
for knowledge and data sharing.
The annual meeting will serve as a forum for dialogue, information transfer and building of collaborative relationships among industry, academia, health authorities and families.
The Annual Meeting is open to anyone interested or involved in rare disease and individualized medicine.
Keynote Presentation
Regulatory Refresh: how the regulatory system should be a driver for change
Dan O’Connor, MD
Director Regulatory and Early Access Policy
The Association of the British Pharmaceutical Industry
Dan O'Connor, MD, is the Director of Regulatory and Early Access Policy at The Association of the British Pharmaceutical Industry (ABPI). He joined the ABPI from the Medicines and Healthcare Products Regulatory Agency (MHRA) in 2023. At the MHRA, he was Deputy Director of the Innovation Accelerator and Regulatory Science. Dan has special interests in rare diseases, drug development, regulatory science, health innovation, patient engagement, drug repurposing, and preventative medicines. Within the rare disease community, Dan has been a central player in multiple local and international efforts to use the regulatory landscape to revolutionize patient access to therapies. Some of these key efforts include the Early Access to Medicines Scheme in the UK, the Rare Therapies Launch Pad (RTLP), and the International Rare Diseases Research Consortium (IRDiRC). He is an editor author of the first edition Oxford Specialist Handbook of Pharmaceutical Medicine and on the editorial board of the journals Expert Opinion on Orphan Drugs and Rare Disease and Orphan Drugs Journal.
2025 Agenda at a Glance
Invited Speakers
David Butler
Chief Technology Officer
Hongene Biotech
David Cheerie
University of Toronto
Scott Demarest
Children’s Hospital Colorado
Lauren Dempsey
SickKids Advanced Therapeutics Advisory Board
Julie Douville
n-Lorem
Richard Finkel
St. Jude’s Children’s Research Hospital
Marlen Lauffer
Leiden University Medical Center
Nianwei Lin
iXCells Biotechnologies
Jeremy Little
ChemGenes Corporation
Cat Lutz
The Jackson Laboratory
Giacomo Mancini
Charles River Laboratories
Rebecca Miles
ReiNA Consulting LLC
Yiwei She
TNPO2 Foundation
Stephanie Telesca
The KCNC1 Foundation
Fyodor D. Urnov
University of California, Berkley
Willeke van Roon-Mom
1 Mutation 1 Medicine
Julia Vitarello
Mila’s Miracle Foundation
Jonathan Watts
UMASS Chan Medical School
Timothy Yu
Boston Children’s Hospital
Michelle Hastings
University of Michigan Medical School
Registration Fees
Registration will open Spring of 2025
Trainee scientist (graduate student & post doc)
$85
Academic / Non-Profit / Government Professional
$155
Industry Professional
$300
Heading 5
Patient / Family Member
Complimentary (but must register)
Emerging Researcher Flash Talks
Flash Talk Presentations (5 min each) will feature patient-focused collaborative research by emerging research scientists. Presentations will be made in short presentation style with Q&A held for the end of session.
Call for Abstracts Opening Spring 2025
2024 Presentations:
(use button above to read abstracts)
Individualized Antisense Oligonucleotide Therapy for a Patient with Posterior Column Ataxia with Retinitis Pigmentosa (PCARP)
Boxun Zhao, Postdoctoral Research Fellow, Manton Center for Orphan Disease Research
Personalized Splice-modulating Antisense Oligonucleotide Therapy for PEX1-related
Zellweger Spectrum Disorder (ZSD)
Robert Thompson, Genetics and gene therapy Fellow, Boston Children's Hospital/MGH
Antisense oligonucleotides targeting linked-SNPs provide allele-specific knockdown to a dominant-negative SPTAN1 pathogenic variant in a complex genetic region
Christiana Wang, PhD Student. Baylor College of Medicine
N-of-1 for N-of-Many: comprehensive, scalable development of patient-customized splice modulation ASOs for Ataxia Telangiectasia
Clemens Lochmann, M.Sc., PhD Student, Hertie-Institute for Clinical Brain Research
Individualised Exon Skipping Antisense Oligonucleotide Therapy for CHD2-Related Neurodevelopmental Disorders Jack Morgan, PhD Student Dutch Center for RNA Therapeutics | Leiden University Medical Center
First In Class ASO Targeting IGHMBP2 Cryptic Splice Variant: Efficacy and Safety
Caroline Johnson, Clinical, Vanda Pharmaceuticals Inc.
Organizing Committee
