3rd Annual
October 20-21, 2025
Cambridge, Massachusetts
Days to the Event
About the Event
Please consider joining us for our third n-Lorem Nano-rare Patient Colloquium.
At this event, you will be joining a community of care that consists of patients and their families, physicians and institutional representatives, n-Lorem leadership team members, industry leaders, partners, donors and supporters. Stay tuned as more speakers are added to the lineup!
Host & Venue
This Colloquium is hosted by Biogen
Biogen is a founding donor of n-Lorem and a leading global biotechnology company that has pioneered multiple breakthrough innovations. Biogen is advancing a pipeline of potential novel therapies across neurology, specialized immunology and rare diseases and remains acutely focused on its purpose of serving humanity through science while advancing a healthier, more sustainable and equitable world.
www.biogen.com
Boston Marriott Cambridge
50 Broadway
Cambridge, MA 02142
Reception & Art Auction
Please join us following the scientific poster session of the 2025 Nano-rare Patient Colloquium on Monday, October 20 from 6:45 to 8:30 PM, for an evening of connection, conversation, and community. Enjoy small bites and drinks as you mingle with fellow attendees, meet members of the nano-rare community, and silently bid on over 30 artworks created by n-Lorem patients. All auction proceeds will directly support our mission. We look forward to welcoming you warmly at the Boston Marriott Cambridge. See you there!
Sponsor
Do you or your organization want to sponsor the 2025 Nano-rare Patient Colloquium? Email [email protected]
Rescue 7 Family Club
Rescue 7: Firefighters for Patients will be on-site at the 2025 Nano-rare Patient Colloquium! Founded by n-Lorem families, Rescue 7 will staff a dedicated area near the main Colloquium room with firefighters and first responders on both October 20 and 21. Families are invited to stop by, hang out, or drop off their children for fun, firefighting-themed activities while caregivers attend the event.
Questions? Contact: R[email protected]
Travel
Traveling to Cambridge?
Day 1 — 2025 Nano-rare Patient Colloquium
Agenda — Monday, October 20
Subject to change
Click on an image to access biographical information
7:00 – 7:45 am
Check-in and Breakfast
7:45 – 8:00 am
Welcome and Colloquium Logistics
Amy C. Williford, Ph.D.
Executive Director of Communications and Donor Relations, n-Lorem
8:00 – 8:30 am
Presentation
n-Lorem: Converting Hope to Reality
Stanley T. Crooke, M.D., Ph.D.
Founder and CEO, n-Lorem
8:30 – 9:00 am
Presentation
Clinical Benefit: Lessons from the n-Lorem Experience
Laurence Mignon, Ph.D.
Executive Director, Clinical Development, n-Lorem
9:00 – 9:15 am
Investigator Presentation
Neil Shneider, M.D., Ph.D.
Director, Eleanor and Lou Gehrig ALS Center; Professor of Neurology, Columbia University; Co-founder, Silence ALS
9:15 – 9:30 am
Investigator Presentation
Antisense Oligonucleotides: A Precision Therapy Paradigm for SCN2A and Other Channelopathies
This presentation will discuss how causal monogenic variants associated with channelopathies present in children with developmental epileptic encephalopathy, characterized by medically refractory seizures, developmental delay, ataxia, autism, and choreoathetosis. Individualized antisense oligonucleotides targeting SCN2A variants currently in clinical trial demonstrate favorable safety and efficacy signals. This represents an emerging therapeutic approach for ASO application in SCN2A and other channelopathies with unmet need.
Olivia Kim-McManus, M.D.
Associate Clinical Professor, UC San Diego School of Medicine Dept of Neurosciences, Pediatric Neurologist and Epileptologist, Rady Children’s Hospital Precision Therapeutics Neuro-Interventional Program Director
9:30 – 10:00 am
Presentation
Treating for Life: Why the Data Matters
Sarah Glass, Ph.D.
Chief Operating Officer, n-Lorem
10:00 – 10:15 am
Q&A
Answering
Laurence Mignon, Ph.D.
Executive Director, Clinical Development, n-Lorem
Sarah Glass, Ph.D.
Chief Operating Officer, n-Lorem
10:15 – 10:30 am
Break
10:30 – 10:50 am
Investigator Presentation
Transitioning from Clinical Trials to Clinical Practice: The Next Chapter
A discussion on the challenges of long-term follow-up in pediatric neurological patients, with a focus on a case involving three years of antisense oligonucleotide (ASO) treatment.
Jennifer Bain, M.D., Ph.D.
Associate Professor of Neurology and Pediatrics, Columbia University
10:50 – 11:20 am
Presentation
ASOs Can Be Safely Developed for Nano-rare Patients: Insights from the n-Lorem Experience
Laurence Mignon, Ph.D.
Executive Director, Clinical Development, n-Lorem
11:20 – 11:50 am
Presentation
Every Step Matters: How Safety Shapes Our ASO Program Decisions from Discovery to Delivery
Sarah Glass, Ph.D.
Chief Operating Officer, n-Lorem
11:50 – 12:00 pm
Awards
Heroes of n-Lorem
Our pioneering patients are paving a pathway for more nano-rare patients, providing valuable information on health and disease and experiencing, for the first time, targeted therapeutic intervention for their genetic conditions. Please join us as we hear their diagnostic stories from the patients and their families. We will follow these with case reports on these patient’s clinical experiences presented by the physicians who are so committed to caring for these patients.
Wendy Erler
Senior Vice President, Patient Affairs, Sarepta Therapeutics
Stephanie Fradette, Ph.D.
Head of the Neuromuscular Development Unit, Biogen
Natacha Gassenbach
Head of Corporate Affairs, Chief Communications Officer, Biogen
Richard S. Geary, Ph.D.
Chief Development Officer, Executive Vice President of Development, Ionis Pharmaceuticals
Scott Henry, Ph.D.
SVP, Nonclinical Development, Ionis Pharmaceuticals
12:00 – 1:00 pm
Lunch
Courtesy of Biogen
1:00 – 1:30 pm
Presentation
From Decision to Impact: Case-based Insights into ASO Drug Development for Nano-rare Patients
Julie Douville, Ph.D.
Vice President, ASO Discovery and Development, n-Lorem
1:30 – 1:45 pm
Q&A
Answering
Julie Douville, Ph.D.
Vice President, ASO Discovery and Development, n-Lorem
Laurence Mignon, Ph.D.
Executive Director, Clinical Development, n-Lorem
Sarah Glass, Ph.D.
Chief Operating Officer, n-Lorem
1:45 – 2:15 pm
Expert Panel
Navigating the Complexities of Individualized ASO Development
Moderator
Julie Douville, Ph.D.
Vice President, ASO Discovery and Development, n-Lorem
Panelists
Scott Henry, Ph.D.
SVP, Preclinical Development, Ionis Pharmaceuticals
Laurence Mignon, Ph.D.
Executive Director, Clinical Development, n-Lorem
Eugene Schneider, M.D.
Executive Vice President and Chief Clinical Development and Operations Officer, Ionis Pharmaceuticals
Konstantina Skourti-Stathaki, Ph.D.
Senior Director, Discovery and Research, n-Lorem
2:15 – 2:45 pm
Patient Panel
Hope Realized; The Culmination of Effort, Perseverance and Belief in a Better Outcome
Our pioneering patients are paving a pathway for more nano-rare patients, providing valuable information on health and disease and experiencing, for the first time, targeted therapeutic intervention for their genetic conditions. Please join us as we hear their diagnostic stories from the patients and their families. We will follow these with case reports on these patient’s clinical experiences presented by the physicians who are so committed to caring for these patients.
2:45 – 3:30 pm
Expert Panel
Complexities in Long-Term Evaluation of Pediatric Neurodevelopmental and Neurodegenerative Diseases
3:30 – 3:45 pm
Break
3:45 – 4:15 pm
Presentation
Why Science Matters: Building a Scalable and Unmatched ASO Discovery Engine
Konstantina Skourti-Stathaki, Ph.D.
Senior Director, Discovery and Research
4:15 – 4:45 pm
Presentation
Advancing the Technology: The Next Chapter for ASO is Happening at n-Lorem
Stanley T. Crooke, M.D., Ph.D.
Founder and CEO, n-Lorem
4:45 – 5:00 pm
Q&A
Answering
Stanley T. Crooke, M.D., Ph.D.
Founder and CEO, n-Lorem
Konstantina Skourti-Stathaki, Ph.D.
Senior Director, Discovery and Research, n-Lorem
5:00 – 5:15 pm
Presentation
Connecting the Dots: Translating Research and Development into Clinical Impact
Julie Douville, Ph.D.
Vice President, ASO Discovery and Development, n-Lorem
5:15 – 6:15 pm
Scientific Poster Session
6:30 – 8:30 pm
Reception
Please join us after Day 1 of the 2025 Nano-rare Patient Colloquium for an evening of connection, conversation, and community. Enjoy small bites and drinks as you mingle with fellow attendees, meet members of the nano-rare community, and silently bid on over 30 artworks created by n-Lorem patients. All auction proceeds will directly support our mission. We look forward to welcoming you warmly at the Boston Marriott Cambridge. See you there!
Scientific Poster Session — Monday, October 20 / 5:15 – 6:15pm
Subject to change
Click on an image to access biographical information of n-Lorem team members
The Importance of Understanding Mutation-specific Biology, Exemplified by JIP3
This study highlights the importance of understanding mutation-specific biology, exemplified by a toxic gain-of-function mutation in JIP3 (R578C) that disrupts axonal transport, signaling pathways, and overall neuronal function. By elucidating the molecular proximal pathological mechanisms associated with this mutation, we have successfully identified allele-selective ASOs as the optimal therapeutic strategy.
Wei Zhang, Ph.D.
Associate Director, Core Research, n-Lorem
Understanding and Reducing the Risk of Innate Immune Activation
Phosphorothioate antisense oligonucleotides (PS-ASOs) can activate the innate immune response via toll-like receptor 9 (TRL9), creating safety challenges in the clinic. Our research has uncovered how the PS-ASO-induced innate immune response is terminated. This work significantly advances our understanding of PS-ASOs, enabling the development of drugs that are better tolerated to improve outcomes for patients.
Julia Pytte, Ph.D.
Senior Scientist, n-Lorem
DYRK1A, a Discovery Case’s Evolution from Research to High-throughput Scalability
The current DYRK1A program has evolved from designing a small number of candidate ASOs to leveraging n-Lorem’s high-throughput n-of-1 Discovery pipeline. This work has enabled us to conduct rapid, rigorous and high-quality screening combined with functional studies to specifically target the pathogenic mechanism of this nano-rare disorder.
Craig McIntosh, Ph.D.
Associate Director, ASO Discovery, n-Lorem
iPSC Strategies to Reduce Time and Cost in Disease Modeling
This work describes the establishment of an optimized iPSC-derived neuronal differentiation platform to streamline disease modeling for ASO screening. By utilizing patient-specific iPSCs, this approach offers a scalable, robust, and cost-effective solution for high-throughput ASO screening, significantly reducing timelines and costs in the preclinical discovery pipeline.
Ria Thomas, Ph.D.
Senior Scientist, n-Lorem
Progress in Creating Agonist-like ASOs for Patients with LOF Mutations
Building on foundational work from the Crooke lab and integrating our own AI-driven algorithm, we have developed a platform to identify and validate genomic regulatory elements that can be targeted by ASOs to upregulate protein expression. This therapeutic strategy has now established proof of concept protein upregulation and addresses haploinsufficiency and loss-of-function diseases through a mutation-independent approach, broadening its applicability across diverse patient populations.
Anthony Vu, Ph.D.
Assistant Director, ASO Strategy Research, n-Lorem
Tackling RNA-caused Diseases: A Focus on RNU4-2
Mutations in U-rich RNAs are increasingly recognized as drivers of neurodevelopmental disorders. Although their short length and structured nature presents challenges, ASO technology offers a unique therapeutic opportunity. This work focuses on a recently identified mutation in RNU4-2, highlighting its functional characterization and n-Lorem’s therapeutic strategy to address its toxic effects.
Konstantina Skourti-Stathaki, Ph.D.
Senior Director, ASO Design and Discovery, n-Lorem
Using ‘Omics’ Data to Inform and Refine ASO Design
This study illustrates how we apply our experience and deep expertise to harness insights from large-scale public genomic and transcriptomic datasets to inform multiple stages of ASO discovery; from feasibility assessment to design and optimization. We will also discuss the critical importance of selecting appropriate datasets to support informed and effective decision-making throughout this process.
Emily Miyoshi, Ph.D.
Senior Bioinformatics Scientist, n-Lorem
Robust Safety Monitoring in n=1 Trials: A Scalable Approach from REDCap to PowerBI for Data Safety Monitoring Board Oversight
We present a scalable data lifecycle framework for n=1 trials, designed to support robust safety monitoring and Data Safety Monitoring Board (DSMB) review. Beginning with individualized protocol development, the workflow moves to custom REDCap electronic data capture (EDC) builds, remote data monitoring and cleaning, and direct export of cleaned data into PowerBI. Our PowerBI dashboards enable real-time, visualized safety review across adverse events, concomitant medications, labs, and other key safety measures.
Helen Pu, Ph.D.
Senior Clinical Data Scientist, n-Lorem
From Sequence to Safety: Preclinical Assessment of Tolerability and Toxicology Profiles of ASOs
At n-Lorem, patient safety is the foundation of our discovery and development process. The development of optimal experimental ASOs depends on achieving excellent safety profiles, guided by rigorous tolerability and toxicology assessments throughout. This poster outlines n-Lorem’s comprehensive preclinical development approach for creating well-tolerated ASOs with favorable toxicological profiles. It will detail standard class-related in vivo findings, the primary types of toxicities encountered, and key safety considerations at each stage of preclinical development.
Catherine Parisien, MSc
Senior Scientist/Toxicologist, Preclinical Development, n-Lorem
Ensuring Quality at Every Step in our ASO Manufacturing and Formulation
Our approach to antisense oligonucleotide (ASO) manufacturing ensures rigorous quality control from lead identification through GMP production. This poster outlines how, once a lead ASO is selected, we assess key development risks and timelines to inform the strategy for GMP drug substance manufacturing—either in parallel with or following toxicology batch production. The selected sequence is transferred to the drug substance CMO, and documentation preparation begins. The GMP process involves several steps: amidite preparation, solid-phase synthesis, cleavage and deprotection, purification, ultrafiltration, and lyophilization. GMP drug substance is then transferred to the drug product CMO where it is further processed through formulation, sterile filtration, and filling into ready for dosing vials. Quality is ensured through comprehensive analytical testing, including HPLC purity/impurity profiling, sterility assessment and annual stability testing. These activities are executed in close partnership with trusted CDMOs to ensure consistency and compliance with regulatory standards.
Thuy Nguyen
Associate Director, Chemistry, Manufacturing and Controls, n-Lorem
Day 2 — 2025 Nano-rare Patient Colloquium
Agenda — Tuesday, October 21
Subject to change
Click on an image to access biographical information
7:15 – 8:00 am
Check-in and Breakfast
8:00 – 8:10 am
Presentation
Opening Remarks – Day 2
Stanley T. Crooke, M.D., Ph.D.
Founder and CEO, n-Lorem
8:10 – 8:30 am
Investigator Presentation
Improvement in Developmental Disability from Genetically-targeted Treatments: What Have We Seen?
Genetic and developmental and intellectual disabilities (ID) have recently been a target for genetically-directed treatments that reverse the disease mechanism. We do not know how much, for which ages of patients, and for which conditions, reversal of the abnormal brain development and function is possible. Additional measurement issues for those with ID make this a complex problem to address. Some headway is gradually being made in this area, however, and it is only by attempting to reverse the cognitive and behavioral deficits in these disorders that we can understand how possible each is to reverse.
Elizabeth Berry-Kravis, M.D., Ph.D.
Professor of Pediatrics and Neurological Sciences at Rush University Medical Center in Chicago
8:30 – 8:50 am
Investigator Presentation
Challenges and Outcome Measures in ASO Precision Medicine for Neurodevelopmental Disorders
Examining the challenges and selecting meaningful outcome measures for patients with neurodevelopmental conditions undergoing antisense oligonucleotide (ASO) treatment.
Jennifer Bain, M.D., Ph.D.
Associate Professor of Neurology and Pediatrics, Columbia University
8:50 – 9:20 am
Panel Discussion
Redefining What’s Possible: Clinical Perspectives on Developmental Gains in Treated Patients
9:20 – 9:40 am
Investigator Presentation
Wendy Chung, M.D., Ph.D.
Chief, Department of Pediatrics at Boston Children’s Hospital and Harvard Medical School
9:40 – 9:50 am
n-Lorem Presentation
9:50 – 10:00 am
Presentation
Creating Connectivity: Building a Community for the Nano-rare
Andrew Serrano
Digital Marketing Manager, n-Lorem
10:00 – 10:15 am
Break
10:15 – 10:45 pm
Community Panel
Why Community Matters: A Conversation with Nano-rare Patients and Families
10:45 – 11:30 am
Patient Panel
In Their Words: Diagnostic Journeys and the n-Lorem Experience
11:30 – 11:40 am
Investigator Presentation
Targeted Intervention to Preserve Vision: First Use of ASO in Retinal Disease
From bedside to bench and back to bedside – the journey from diagnosis to the creation of a personalized ASO for one child with retinitis pigmentosa. Ethical considerations, protocol development, and two years of treatment outcomes will also be discussed.
11:40 – 12:15 pm
Patient Panel
Hope Realized; The Culmination of Effort, Perseverance and Belief in a Better Outcome
Our pioneering patients are paving a pathway for more nano-rare patients, providing valuable information on health and disease and experiencing, for the first time, targeted therapeutic intervention for their genetic conditions. Please join us as we hear their diagnostic stories from the patients and their families. We will follow these with case reports on these patient’s clinical experiences presented by the physicians who are so committed to caring for these patients.
12:15 – 1:15 pm
Lunch
Courtesy of Biogen
1:15 – 1:45 pm
Presentation
World-class Precision Medicine Centers: Catalysts for Change in Nano-rare Disease Care
Sarah Glass, Ph.D.
Chief Operating Officer, n-Lorem
1:45 – 2:30 pm
Patient Perspectives
Finding the Right Partner in Care
2:30 – 2:45 pm
Investigator Presentation
Neil Shneider, M.D., Ph.D.
Director, Eleanor and Lou Gehrig ALS Center; Professor of Neurology, Columbia University; Co-founder, Silence ALS
2:45 – 3:00 pm
Break
3:00 – 3:30 pm
Presentation
The Future of Nano-rare: A Global Vision Rooted in Proven Impact
Sarah Glass, Ph.D.
Chief Operating Officer, n-Lorem
3:30 – 4:15 pm
Community Panel
Enabling the Mission: How the Community Can Help Advance n-Lorem’s Impact
We cannot do
this alone
Together we are changing the world—
one patient at a time
We hope that you join us on this journey to discover, develop and provide individualized antisense medicines for free for life for nano-rare patients. The ultimate personalized medicine approach – for free, for life.
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