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 after Day 1 of the 2025 Nano-rare Patient Colloquium, following the Scientific Poster Session, for an evening of mingling, music, small bites, and drinks. Connect with community members, enjoy meaningful conversations, and place a bid on 34 unique art pieces created by n-Lorem pioneer patients. We look forward to welcoming you with open arms—and yes, children are welcome to attend. 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
All times are Eastern (ET)
Click on an image to access biographical information
Subject to change
7:00 – 8:00 am
Check-in and Breakfast
8:00 – 8:30 am
Presentation
n-Lorem: Converting Hope to Reality
What began nearly six years ago as a big dream: to provide individualized experimental treatments to nano-rare patients has become a reality that is changing lives. Today, we are not only delivering personalized medicines safely and effectively, but also expanding access, enabling families to dream again, and elevating the voices of those once unheard. Stan Crooke will open the meeting by sharing the key lessons that we have learned and will be sharing during the meeting. When you dream big, work hard and persevere, great things can happen.
8:30 – 9:00 am
Presentation
Clinical Benefit: Lessons from the n-Lorem Experience
In this presentation, we will highlight emerging insights from multi-year follow-up of patients treated with individualized antisense oligonucleotide (ASO) medicines. The data demonstrate that nano-rare patients are experiencing meaningful clinical benefit; even in the context of severe, progressive disease. These benefits span a wide range of variables, including different genes, mutations, ASO strategies, disease types, patient ages, and stages of disease progression. Our findings support a growing case for earlier and more proactive treatment and are reshaping expectations for what is possible in the nano-rare population.
9:00 – 9:15 am
Investigator Presentation
TBD
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.
9:30 – 10:00 am
Presentation
Treating for Life: Why the Data Matters
Nano-rare patients represent the most medically underserved population, and for most, this marks the first time a targeted treatment has ever been available. In this presentation, we will examine the critical role of continued engagement with the treating physician and patient after the initial treatment period. We will discuss the challenges of collecting and publishing aggregate data, where endpoints may be different among patients and are often dynamic and evolving with treatment. Our longitudinal data are not only essential to guide care for each patient, but also offer unprecedented insights into disease progression and therapeutic response in nano-rare patients. Continued publication of these findings is vital to advancing the science and setting new standards for future individualized treatments.
10:00 – 10:15 am
Break
10:15 – 10:45 am
Presentation
ASOs Can Be Safely Developed for Nano-rare Patients: Insights from the n-Lorem Experience
Safety is the cornerstone of n-Lorem’s mission to provide ASO medicines to nano-rare patients. In this presentation, we will share aggregate safety data from our clinical experience to address a central question: Can ASOs be developed safely for patients who are often severely ill, medically fragile, and facing multiple comorbidities? Our data offer strong reason for optimism, demonstrating that individualized ASO therapies can be well tolerated even in the most complex clinical scenarios. We will outline key safety observations, highlight what makes this patient population especially challenging to treat, and describe the safeguards in our approach that prioritize patient well-being while advancing therapeutic innovation.
10:45 – 11:05 am
Investigator Presentation
Transitioning from Clinical Trials to Clinical Practice: The Next Chapter
In this presentation, Dr. Bain will discuss the challenges of long-term follow up in pediatric neurological patients focusing on a nano-rare patient with 3 years of ASO treatment.
11:05 – 11:35 am
Presentation
Every Step Matters: How Safety Shapes Our ASO Program Decisions from Discovery to Delivery
This presentation will examine how our rigorous, experience-based process at n-Lorem contributes to our exceptional safety record in the development of individualized ASO medicines. From discovery through treatment and evaluation, safety is not a single checkpoint, it is embedded into every decision we make. We will outline the decision-points underpinned by safety considerations across the ASO development pathway and discuss the expertise required to make informed, high-stakes clinical decisions for patients with complex, progressive diseases. This discussion will walk through the key considerations for acceptance decisions, identification of the right ASO, and the oversight mechanisms that ensure only the most appropriate therapies move forward, and data exemplifying our experience to date.
11:35 – 11:50 am
Q&A
Answering
11:50 – 12:00 pm
Awards
Heroes of n-Lorem
The ‘Hero of n-Lorem’ Award is a recognition given to an individual volunteer or organization that has made substantial contributions to n-Lorem and our nano-rare patients. This honor recognizes our ‘unsung heroes’, those who have gone the extra mile, taken time away from their schedules and families and leveraged their expertise and contacts to support n-Lorem’s mission to provide hope and potential help to nano-rare patients.
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
This presentation will use real-world examples to illustrate how n-Lorem makes the complex, often difficult decisions that guide ASO discovery and development for nano-rare patients. We will explore case studies that show why deep scientific expertise, clinical insight, and lived experience with ASO medicines are essential to achieving the best possible outcomes. These examples will demonstrate how we balance therapeutic potential with patient safety, how we adapt strategies to disease complexity, and how early, informed decisions can shape the trajectory of both the ASO and the patient’s care. This talk will underscore that in the nano-rare space, the quality of decision-making is as important as the innovation behind the therapy.
1:30 – 2:15 pm
Expert Panel
Navigating the Complexities of Individualized ASO Development
This expert panel will examine the central question: Is the n-Lorem process working? Drawing on the themes of safety, oversight, and decision-making introduced in prior talks, panelists will explore the nuanced decisions required to ensure safety, optimize clinical outcomes, and responsibly advance individualized therapies for nano-rare patients. The discussion will explore real-world outcomes, the scalability of the model, the complexity of treating medically fragile patients, and the standards of evidence required to demonstrate success. Panelists will bring diverse perspectives from clinical practice, regulatory science, and therapeutic development to assess the effectiveness, and future potential, of n-Lorem’s mission.
Moderator
Panelists
2:15 – 2:45 pm
Patient Panel
Hope Realized; The Culmination of Effort, Perseverance and Belief in a Better Outcome
Alya’s Journey and Unique Clinical Experience
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.
Moderator
Panelists
2:45 – 3:30 pm
Expert Panel
Complexities in Long-Term Evaluation of Pediatric Neurodevelopmental and Neurodegenerative Diseases
This panel will explore the unique challenges of evaluating long-term outcomes in pediatric patients with neurodevelopmental and neurodegenerative diseases. Expert physicians with direct experience treating n-Lorem patients will discuss the complexities of assessing change in patients with evolving, often progressive conditions; all of whom are receiving targeted therapies for the first time.
3:30 – 3:45 pm
Break
3:45 – 4:00 pm
Presentation
Saving Sight: Leveraging the Power of ASOs to Treat Inherited Eye Disease
Dr Borooah will describe the journey taken to translate an ‘N of 1’ treatment approach aimed at preventing blindness in a patient with a degenerative disease of the retina. Additionally, he will outline key learning points and highlight opportunities for future trials to expand treatments to help others with sight-threatening inherited eye diseases.
4:00 – 4:30 pm
Presentation
Why Science Matters: Building a Scalable and Unmatched ASO Discovery Engine
This presentation will detail how n-Lorem has built a highly efficient and productive ASO discovery team rooted in deep scientific expertise and designed for scale. We will outline how our discovery process was intentionally structured to support rapid, individualized drug development; leveraging 35+ years of foundational knowledge in ASO science, proprietary AI-driven design tools, and automation that enables high-throughput screening. While AI plays a growing role, we emphasize that its output is only as reliable as the data and experience that inform it. Attendees will gain insight into how we create safe, targeted ASOs, maintain scientific rigor, and continuously refine our platform to meet the growing demand for nano-rare treatments. Our results demonstrate that with the right foundation, efficiency and quality are not trade-off, in fact they are mutually reinforcing.
4:30 – 5:00 pm
Presentation
Advancing the Technology: The Next Chapter for ASO is Happening at n-Lorem
In this presentation, we will share how n-Lorem is broadening the boundaries of ASO technology to better serve nano-rare patients. From improving the precision of allele-selective targeting, one of the most scientifically complex and clinically impactful challenges in ASO design, to developing new mechanisms that expand our therapeutic reach, our focus remains on continual innovation. We will discuss the technical and biological hurdles of achieving allele selectivity, the strategies we employ to overcome them, and what we’ve learned through real-world application. At n-Lorem, the next chapter in ASO advancement is already underway.
5:00 – 5:15 pm
Presentation
Connecting the Dots: Translating Research and Development into Clinical Impact
This presentation will provide a sneak preview into the upcoming poster session and connect the dots from the groundbreaking research and development that n-Lorem is conducting to our ultimate goal – treating nano-rare patients.
5:15 – 6:15 pm
Scientific Poster Session
This poster session will showcase the breadth and depth of scientific innovation driving n-Lorem’s mission to bring individualized ASO therapies to nano-rare patients. Posters will highlight technical advances, case studies, and process innovations across discovery, manufacturing, preclinical development, and clinical data management.
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.
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.
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.
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. Craig McIntosh, Ph.D., will be presenting on behalf of Ria Thomas, Ph.D.
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.
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.
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.
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.
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.
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.
ASO Discovery, Development, and Clinical Operations: A Patient and Physician Perspective
n-Lorem and each physician and institution has many critical responsibilities throughout the n-Lorem process and makes significant financial investments in each patient’s program. This poster will outline n-Lorem’s operational processes to support and guide physicians through n-Lorem’s unique framework. These proactive steps which begin prior to patient nomination and continue through patient treatment, are designed to increase the efficiency of and reduce administrative hurdles for each patient program.
Day 2 — 2025 Nano-rare Patient Colloquium
Agenda — Tuesday, October 21
All times are Eastern (ET)
Click on an image to access biographical information
Subject to change
7:15 – 8:00 am
Check-in and Breakfast
8:00 – 8:15 am
Presentation
Opening Remarks – Day 2
8:15 – 8:35 am
Investigator Presentation
Improvement in Developmental Disability from Genetically-targeted Treatments: What Have We Seen?
In this presentation, Dr. Berry-Kravis will discuss what has been observed in development disabilities on disease-modifying treatment. 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.
8:35 – 8:55 am
Investigator Presentation
Challenges and Outcome Measures in ASO Precision Medicine for Neurodevelopmental Disorders
In this presentation, Dr. Bain will discuss the challenges associated with personalized outcome measures for neurodevelopmental diagnoses.
8:55 – 9:25 am
Panel Discussion
Redefining What’s Possible: Clinical Perspectives on Developmental Gains in Treated Patients
This panel will feature physicians who are directly treating nano-rare patients experiencing unexpected and meaningful developmental progress following individualized ASO treatment. Panelists will share their clinical observations and reflect on how this emerging data is challenging long-standing assumptions about irreversible developmental delay. The discussion will also explore how these insights are reshaping expectations for treatment timing, outcome measures, and long-term care planning in pediatric neurodevelopmental and neurodegenerative diseases.
9:25 – 9:45 am
Investigator Presentation
‘N of 1‘ to ‘N of a Few‘
The success of n-Lorem’s the N of 1 ASO program leads to the question of what comes after the first patient. If there is evidence of safety and efficacy for the first patient, how do we assess who else might be appropriate for the same ASO and how do we develop standardized protocols and tools to assess efficacy across patients at different disease stages and across different sites?
9:45 – 10:00 am
Presentation
Creating Connectivity: Building a Community for the Nano-rare
Nano-rare patients face profound isolation, not just medically but socially and emotionally. With no patient registries, no disease-specific organizations and often no other known individuals sharing their disease, these patients have had no support networks in the past. We want to change that. This presentation will explore how n-Lorem has worked to change the isolation nano-rare patients face. Through intentional efforts, including a dedicated website, robust social media presence, educational podcasts series and a successful patient colloquium. n-Lorem is creating a space for shared experience, trusted information and collective support. We will share data demonstrating the growth and engagement of our audience, outline the tools and platforms we use, including our Lessons in Antisense series, and describe how we measure success. From demystifying antisense science to providing practical resources for patients and physicians, our goal is to build an informed and connected community.
10:00 – 10:15 am
Break
10:15 – 10:45 pm
Community Panel
Why Community Matters: A Conversation with Nano-rare Patients and Families
This panel will bring together nano-rare families to explore why building a patient community is essential, especially for individuals living with conditions so rare they often have no peers, no disease-specific resources, and no roadmap. Panelists will share personal experiences and reflect on the value of connection, shared knowledge, and emotional support. The discussion will also address what types of education and communication families need to make informed decisions about treatment. Panelists will offer candid feedback on how n-Lorem’s efforts to build and support this community are working and where there is room to do better.
10:45 – 11:30 am
Patient Panel
In Their Words: Diagnostic Journeys and the n-Lorem Experience
In this powerful panel, nano-rare patient families will share their personal diagnostic journeys, which are often long, complex, and filled with uncertainty, and describe how they ultimately found n-Lorem. Panelists will reflect on what it meant to discover a path forward for treatment, and how their experience with n-Lorem has shaped their expectations, hopes, and understanding of what’s possible. This session offers a unique and deeply human perspective on the impact of science and individualized care for those navigating the unknown.
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 creation of a personalized ASO for one child with retinitis pigmentosa. Here I will also discuss ethical concerns, protocol development, and 2 years of treatment results.
11:40 – 12:15 pm
Patient Panel
Hope Realized; The Culmination of Effort, Perseverance and Belief in a Better Outcome
Grace’s Journey and Unique Clinical Experience
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.
Moderator
Panelists
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
This presentation will highlight how our network of precision medicine centers are innovating the treatment management of nano-rare patients. Early adopters/pioneering institutions (enabled rx of many pts) are laying the groundwork for focusing their world-class care and facilities for patients who until now had no access to targeted treatment. We will explain why these centers are critical to delivering individualized therapies, the challenges that these centers face, and how we are working together to help solve issues around clinical costs. We will also highlight the need for more centers or other solutions to support nano-rare patients who do not have access to a treating institution today.
1:45 – 2:30 pm
Patient Perspectives
Finding the Right Partner in Care
This panel will feature nano-rare patient families sharing their experiences identifying and engaging with treating institutions. Panelists will discuss the importance of finding a physician willing to partner with n-Lorem, the value of receiving care close to home, and what patients and families can do to help bring institutions on board. From early conversations with providers to supporting institutions before, during, and after treatment, this session will offer practical insights and powerful patient perspectives on what it takes to build effective clinical partnerships and why these connections are essential for timely access to individualized therapies.
Moderator
Panelists
2:30 – 2:45 pm
Investigator Presentation
TBD
2:45 – 3:00 pm
Break
3:00 – 3:30 pm
Presentation
The Future of Nano-rare: A Global Vision Rooted in Proven Impact
In this presentation, we will look ahead to the future that n-Lorem is actively building for nano-rare patients; one where individualized ASO therapies are accessible, scalable, and safe for even more nano-rare patients. n-Lorem has created the only workable model to serve this unique and medically underserved population, and we are proving its success every day. We will highlight how our approach has established a new standard for treating nano-rare disease and what we can do today to accelerate access, expand capacity, and drive global reach. With the path now charted, our focus turns to scaling our impact; bringing individualized hope to patients around the world.
3:30 – 4:15 pm
Community Panel
Enabling the Mission: How the Community Can Help Advance n-Lorem’s Impact
4:15 – 4:45 pm
Closing Remarks

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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