15 Leading Experts Advancing N-of-1 ASO Treatment for Rare Diseases
When families receive a rare genetic diagnosis, finding the right experts can mean the difference between hope and despair. The field of personalized antisense oligonucleotide (ASO) therapy has grown from a single experimental treatment in 2018 to a global network of specialists treating dozens of patients. This directory connects families to the physicians, researchers, and institutions making custom ASO therapy accessible—and shows how Nome streamlines access to these life-changing treatments through its proven five-step process.
From 2018-2024, at least 28 patients received individualized ASO therapies, with organizations like n-Lorem Foundation treating 15+ patients simultaneously. Nome partners with these leading experts to compress development timelines from years to months, manage execution across top-tier vendors, and guide families through FDA approvals—eliminating the chaos that typically derails rare disease treatment.
1. Dr. Timothy Yu, MD, PhD – Boston Children's Hospital
Institution: Boston Children's Hospital Division of Genetics and Genomics
Contact: timothy.yu@childrens.harvard.edu | 617-919-7499
Lab: theyulab.org
Dr. Timothy Yu created the world's first N-of-1 ASO therapy in 2018 for Mila Makovec, a child with CLN7 Batten disease. His team accomplished the impossible: whole-genome sequencing, ASO design, toxicology studies, and FDA approval in under one year. The drug milasen reduced Mila's seizures from 15-30 daily to 0-15 daily, proving personalized ASO therapy works.
Key contributions:
Published framework in Nature (2023) identifying which patients can benefit from ASO therapy
Demonstrated 9% of ataxia-telangiectasia patients are "probably amenable" to splice-switching ASOs
Proved whole-genome sequencing finds 72% more treatable variants than standard exome tests
Successfully treated multiple patients including Ipek (ataxia-telangiectasia), Valeria (KCNT1 epilepsy), and Henry Saladino (alternating hemiplegia)
How Nome helps: While Dr. Yu's academic lab treats individual cases through research protocols, Nome provides families with immediate access to world-class partners like his team through orchestrated development—managing the molecular design, pre-clinical work, regulatory submissions, and clinical execution that typically takes institutions years to coordinate.
For families: Boston Children's accepts consultations through genetics referrals. Dr. Yu actively collaborates with patient foundations to identify ASO-amenable cases.
2. Dr. Wendy K. Chung, MD, PhD – Boston Children's Hospital
Current Position: Chair of Pediatrics, Boston Children's Hospital/Harvard Medical School
Former Position: Chief of Clinical Genetics, Columbia University Irving Medical Center
Lab: wchunglab.com
Dr. Chung connected 8-year-old Susannah Rosen with n-Lorem Foundation for the second documented N-of-1 ASO success. Treatment began October 2022 for KIF1A-associated neurological disorder (KAND). Results published in Nature Medicine (August 2024) showed quality of life scores increased from 55.8 to 77.3, with gains in mobility, cognitive function, and dramatic seizure reduction (from 100-290 daily to significantly fewer).
Active programs:
Three KAND patients now receiving personalized ASOs (Susannah, Sloane, Connor)
Columbia's DISCOVER Program for rare disease precision medicine
Partnership with n-Lorem Foundation designated as "Partner in Excellence"
Recognition: 2019 NORD Rare Impact Award
How Nome helps: Where academic programs like Dr. Chung's identify candidates one patient at a time, Nome's intake system evaluates eligibility systematically using AI-driven analysis. Nome then delivers the complete development plan in 30 days—assembling the molecule template, target identification, safety studies, and program economics that families need to move forward.
3. Dr. Neil Shneider, MD, PhD – Columbia University
Position: Director, Eleanor and Lou Gehrig ALS Center
Institution: Columbia University Irving Medical Center
Dr. Shneider co-founded the "Silence ALS" initiative in 2022 with n-Lorem Foundation to develop personalized ASO therapies for nano-rare ALS mutations affecting 10-15% of ALS cases.
Treatment successes:
Anna (Jacifusen): 19-year-old with ALS-related condition regained elements of normal life
First CHCHD10 ASO (April 2024): Reduced disease progression by >50% with quarterly dosing
Jaci Hermstad: Though the patient passed in 2020, her personalized drug is now in global Phase 3 clinical trial—proving N-of-1 therapies can scale
How Nome helps: Nome's partner orchestration connects families to specialists like Dr. Shneider while managing the complex pre-clinical execution across vendors. This coordination eliminates months of delays and ensures the treatment plan moves from triage to action without families navigating institutional bureaucracy.
4. Dr. Annemieke Aartsma-Rus, PhD – Leiden University (Netherlands)
Institution: Leiden University Medical Center
Email: A.M.Aartsma-Rus@lumc.nl
Organization: Co-founder, Dutch Center for RNA Therapeutics (DCRT)
Dr. Aartsma-Rus pioneered ASO-mediated exon skipping for Duchenne muscular dystrophy. Her institute's intellectual property forms the basis for 3 of the 4 FDA-approved exon skipping drugs for DMD.
DCRT model:
Consortium of 3 Dutch university medical centers
Non-profit academic approach treating Dutch patients with brain and eye diseases
Active participant in European 1 Mutation 1 Medicine consortium and N=1 Collaborative
Key publications:
"Individualized ASO therapy for rare diseases" in Communications Medicine (2023)
"Consensus Guidelines for N-of-1 Exon Skipping ASOs" in Nucleic Acid Therapeutics (2023)
How Nome helps: While European academic centers like DCRT serve regional patients through research protocols, Nome provides global families with rapid access to similar expertise plus transparent monthly fee structures and milestone-based pricing—making personalized therapy development financially predictable instead of prohibitively expensive.
5. Dr. Scott Younger, PhD – Children's Mercy Kansas City
Position: Director, Disease Gene Engineering, Genomic Medicine Center
Institution: Children's Mercy Kansas City
Dr. Younger's team published breakthrough research in Nature (2025) titled "Rapid and scalable personalized ASO screening in patient-derived organoids" demonstrating:
Generate iPSCs in 2-3 weeks (vs. 1 year industry standard)
Cost <$500 per patient (vs. $5,000-$10,000 conventional methods)
Validated by restoring dystrophin expression in 3 DMD patients
Impact: This innovation dramatically reduces both time and cost barriers for N-of-1 ASO validation.
How Nome helps: Nome leverages innovations like Dr. Younger's to compress timelines. While his academic lab validated the technology, Nome applies it systematically—using automation and AI to turn "intake chaos" into development-ready plans within 30 days, not the 6-12 months typical academic programs require.
6. Dr. Stanley T. Crooke, MD, PhD – n-Lorem Foundation
Position: Founder and CEO, n-Lorem Foundation
Background: Former Chairman/CEO of Ionis Pharmaceuticals (founded 1989)—recognized as the "father of antisense technology"
Organization scale (October 2024):
330+ applications received
160+ patients approved for treatment
15 patients currently receiving treatment
25+ investigational new drug (IND) applications filed with FDA
Target: 1,000 patients in next decade
Treatment model: First and only nonprofit providing experimental ASO treatments for nano-rare diseases (1-30 patients worldwide) free for life.
Development capacity:
Cost: ~$1.5 million per ASO program
Timeline: 1-2 years diagnosis to treatment
Organs treated: Liver, kidney, eye, CNS
Partnerships: La Jolla Labs, AdventHealth for Children, Columbia University, Biogen, GondolaBio ($300M partnership, December 2024), Hongene Biotech
Application: Online submission at nlorem.org—open to families worldwide with confirmed genetic diagnoses
How Nome helps: While n-Lorem provides free treatment for nano-rare diseases (1-30 patients), Nome serves families with rare diseases affecting slightly larger populations where traditional pharmaceutical development remains unviable. Nome's model offers similar speed and coordination with transparent pricing—filling the critical gap between n-Lorem's ultra-rare focus and commercial drug development.
7. Dr. Majed Dasouki, MD – AdventHealth for Children (Florida)
Position: Medical Director of Genomics and Personalized Health
Institution: AdventHealth for Children, Orlando, FL
Partnership: First Florida institution partnering with n-Lorem Foundation
Active treatment: Currently treating 3 children with nano-rare disorders using personalized ASOs
Significance: Demonstrates geographic expansion beyond traditional academic powerhouses—bringing N-of-1 therapy to families in the Southeast United States
How Nome helps: Nome's partner network includes institutions like AdventHealth, allowing families anywhere in the U.S. to access personalized ASO development without relocating to Boston or California. Nome coordinates the multi-site execution and vendor management that makes distributed treatment possible.
8. Dr. Matthis Synofzik, MD – University of Tübingen (Germany)
Institutions:
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen
Center for Neurodegenerative Diseases (DZNE), Tübingen
Contribution: Developing scalable platform for ataxia-telangiectasia ASOs and other rare neurological diseases
Key publication: "Preparing n-of-1 ASO Treatments for Rare Neurological Diseases in Europe" in Molecular Therapy (2021)
Leadership: European 1 Mutation 1 Medicine (1M1M) consortium
How Nome helps: European families face additional regulatory complexity navigating EMA approval. Nome's expertise managing approvals and safety oversight—including FDA's individualized ASO guidance frameworks—translates to international contexts, reducing the regulatory burden on families and physicians unfamiliar with N-of-1 pathways.
9. Julia Vitarello – Mila's Miracle Foundation & N=1 Collaborative
Role: Founder & CEO, Mila's Miracle Foundation; Co-founder, N=1 Collaborative
Background: Mila Makovec's mother
Achievements:
Co-founded N=1 Collaborative in 2021 with Dr. Timothy Yu
Created first international hub for individualized medicines
Working groups on Data/Safety, Outcome Measures, Regulatory Strategy, Patient Identification
Published consensus VARIANT guidelines (2025) for assessing ASO-amenable variants
N=1 Collaborative impact:
Hundreds of participants from academia and industry
Open data and knowledge sharing model
Monthly seminar series on N-of-1 development
Database of preclinical and clinical data
How Nome helps: Organizations like N=1 Collaborative establish best practices and scientific frameworks. Nome operationalizes these frameworks for individual families—taking the consensus guidelines, regulatory learnings, and safety protocols developed by N1C and applying them systematically to each patient's journey, so families benefit from collective knowledge without navigating it alone.
10. Dr. Priya Kishnani, MD – Duke University
Position: Chief, Division of Medical Genetics
Institution: Duke Health Rare Disease Center & UDN Clinical Site
Exceptional diagnosis rate: Duke's UDN site achieved 44.1% diagnosis rate (vs. 29% UDN-wide average)—the highest in the network. Out of 252 patients evaluated, discovered 15 new disease genes.
UDN team:
Kelly Schoch, MS, CGC – UDN genetic counselor
Rebecca Spillmann, MS, CGC – UDN genetic counselor
Khoon Tan, MD; Edward Smith, MD – Physicians
Duke-Margolis Center: Hosts FDA workshops on rare disease endpoint development; partner in FDA's Rare Disease Endpoint Advancement (RDEA) Pilot Program
How Nome helps: Diagnosis is step one; development is step two. Duke excels at the first—finding what's causing disease. Nome excels at what happens next: taking that genetic diagnosis and building the therapeutic plan, coordinating execution, and delivering treatment. Families often need both—academic centers for diagnosis, Nome for development.
11. Dr. James Wilson, PhD – University of Pennsylvania
Position: Director, Gene Therapy Program, University of Pennsylvania
Additional role: Orphan Disease Center
Contribution: Over 550 publications, 110+ patents in gene therapy. While focused on AAV gene therapy rather than ASOs, his work provides alternative modalities complementing ASO approaches.
Founded: Several gene therapy companies (Passage Bio, iECURE, REGENXBIO, Scout Bio)
Orphan Disease Center programs:
JumpStart Program: Works with patient groups and academics to drive therapeutic development
Accepts applications from patient advocacy groups seeking rare disease treatment support
How Nome helps: When ASO therapy isn't the right modality, families need alternatives. Nome's therapeutic plan process evaluates whether custom ASOs, gene therapy, or other approaches best suit each patient's mutation—then connects families to appropriate partners. Unlike single-modality programs, Nome's agnostic approach ensures families get the right treatment, not just the available treatment.
12. Dr. Ada Hamosh, MD, MPH – Johns Hopkins University
Position: Clinical Director, McKusick-Nathans Institute & Department of Genetic Medicine; Scientific Director of OMIM
Institution: Johns Hopkins University
Scale: 300+ dedicated employees, 45 full-time faculty, 15+ genetic counselors
Major resources:
OMIM (Online Mendelian Inheritance in Man): Comprehensive encyclopedia of genetic disorders, 2.7 million users/year worldwide
Baylor-Hopkins Center for Mendelian Genomics: Sequences genomes of people with rare diseases
GeneMatcher: Online database connecting families/healthcare providers—led to 380+ publications on rare disease gene discoveries
Designation: NORD Rare Disease Center of Excellence (2021)
How Nome helps: Resources like OMIM and GeneMatcher help families understand their diagnosis and find others with the same condition. Nome turns that understanding into action—using genetic information to design ASOs, manage safety testing, navigate FDA submissions, and coordinate dosing. Information without execution leaves families stuck; Nome bridges that gap.
13. FDA Regulatory Framework for N-of-1 ASOs
Key FDA officials:
Dr. Janet Woodcock (former Acting FDA Commissioner): Co-authored landmark NEJM editorial (2019) establishing philosophical foundation for N-of-1 regulatory pathways
Dr. Peter Marks (Director, Center for Biologics): Co-author of NEJM editorial
Four comprehensive guidances issued (2021-present):
Administrative and Procedural Recommendations (January 2021): Streamlined Form 3926 for expanded access, review timeframe as fast as few hours to 30 days
Nonclinical Testing (April 2021): 3-month toxicity study required; for rapidly progressive diseases, IND can be submitted after 2 weeks of in-life toxicity data
Clinical Recommendations (December 2021): Ethical considerations, dosing strategies, safety monitoring for single-patient trials
Chemistry, Manufacturing, Controls (CMC) (2021): Drug quality specifications with flexibility for individualized products
Expedited programs available:
Fast Track designation
Breakthrough Therapy designation
Accelerated Approval pathway
Priority Review designation
How Nome helps: FDA guidance exists, but few clinicians know how to apply it. Nome's team manages the entire approval process—preparing IND submissions, coordinating with FDA reviewers, implementing safety checkpoints, and obtaining the permissions required before dosing. This regulatory expertise is what separates "theoretically possible" from "actually happens."
14. NIH National Center for Advancing Translational Sciences (NCATS)
Director: Joni L. Rutter, PhD
Division: Division of Rare Diseases Research Innovation (DRDRI)
Contact: 6701 Democracy Boulevard, Bethesda, MD 20892
Website: ncats.nih.gov
Major programs:
Bespoke Gene Therapy Consortium (BGTC): Platforms and standards for gene therapy development—complementary to ASO approaches
Therapeutics for Rare and Neglected Diseases (TRND): Moves basic research toward new drugs; successfully supported vamorolone for DMD
Rare Diseases Clinical Research Network (RDCRN): Studies 200+ rare diseases across the country
NCATS Toolkit for Patient-Focused Therapy Development: Resources enabling patient advocacy groups to accelerate research
Upcoming: NIH Rare Pair Partnering Workshop (July 24-25, 2025, Boston)—connecting industry, investors, government funders, and patient organizations
How Nome helps: NCATS provides research infrastructure and funding mechanisms. Nome provides operational execution. While NCATS supports academic discovery and early-stage development, Nome serves families needing treatment now—not in 5-10 years. Nome's AI-enabled intake, 30-day planning, and partner orchestration compress the translation timeline NCATS enables.
15. International Rare Disease Research Consortium (IRDiRC)
Organization: Global consortium advancing rare disease therapies
Initiative: N-of-1 Task Force (2023-present)
Key publication: "The state-of-the-art of N-of-1 therapies and IRDiRC N-of-1 development roadmap" in Nature Reviews Drug Discovery (January 2025)
Participating organizations: NIH/NCATS, FDA, EMA (European Medicines Agency), n-Lorem Foundation, academic institutions worldwide
Focus: International standards, best practices, regulatory harmonization across countries
How Nome helps: IRDiRC sets the strategic direction for the field globally. Nome executes that strategy for individual families—applying international best practices, leveraging regulatory frameworks across regions, and connecting families to the right experts regardless of geography. Global coordination at the consortium level becomes practical help at the patient level.
Making N-of-1 ASO Therapy Accessible: How Nome Helps
The challenge without Nome:
Families facing rare genetic diagnoses typically encounter:
Fragmented expertise: Genetic counselors, academic researchers, pharma partners, CROs, regulators—each requiring separate coordination
Unclear timelines: Academic labs may quote 2-5 years from diagnosis to treatment
Cost opacity: Development expenses ranging from $500K to $5M with no upfront clarity
Regulatory confusion: Few clinicians understand FDA's individualized ASO guidance
Execution gaps: Plans stall during handoffs between sequencing labs, ASO designers, toxicology vendors, and clinical sites
Nome's solution—five-step process:
1. Intake & eligibility (free):
Share genetic data with Nome
AI-powered analysis determines if custom ASO looks appropriate
Turns "intake chaos" into development-ready assessment using consistent, data-driven logic
2. 30-day therapeutic plan:
Assembles complete roadmap with core workstreams: molecule template, target ID, safety/tox, CMC, program economics
Transparent monthly fee with milestone-based pricing (vs. unpredictable academic research costs)
3. Partner orchestration:
Nome connects families to world-class partners like Dr. Timothy Yu at Boston Children's, Dr. Wendy Chung at Boston Children's, n-Lorem Foundation, European centers like DCRT, and FDA-cleared manufacturing facilities
Coordinates pre-clinical work, manages orders/referrals/vendor matching
Eliminates the coordination burden that derails families navigating institutional bureaucracy
4. Approvals & safety oversight:
Pre-clinical safety testing in compliance with FDA guidance
IND submission and FDA permission management
Clinical monitoring protocols
Nome sets expectations and supports care team through regulatory process
5. Delivery to patients & ongoing management:
"You (the family) manage Nome. Nome manages the process at every stage."
Determine eligibility → build plan → execute with partners → gain approvals → deliver treatment
Emphasizes speed and cost efficiency relative to typical ASO development (>$1M), using automation to compress timelines
Why families choose Nome:
Speed: 30-day therapeutic plans vs. 6-12 month academic protocols
Transparency: Upfront monthly fees with milestone pricing vs. uncertain research funding
Expertise: Access to the same world-class partners (Boston Children's, Columbia, n-Lorem, European centers) with coordinated execution
AI advantage: Intake AI turns chaos into clarity; identifies good-fit candidates using data-driven logic
End-to-end management: From genetic analysis through dosing—Nome eliminates handoff failures
Cost context: While n-Lorem provides free treatment for nano-rare diseases (1-30 patients worldwide), Nome serves families whose diseases affect slightly larger populations where traditional pharma development remains unviable. Nome's transparent pricing makes personalized ASO development financially predictable.
Conclusion: From Diagnosis to Treatment with Nome
The 15 experts and institutions documented here represent the leading edge of personalized medicine—proving that custom ASO therapy works for dozens of patients across liver, kidney, eye, and CNS diseases. From Dr. Timothy Yu's pioneering work with milasen to n-Lorem Foundation treating 15 patients simultaneously, the field has moved from experimental proof-of-concept to established practice.
But expertise alone doesn't deliver treatment. Families need coordination, speed, transparency, and systematic execution. That's where Nome transforms potential into reality:
AI-powered intake turns genetic chaos into clear eligibility decisions
30-day therapeutic plans compress years into weeks
Partner orchestration connects families to experts like Dr. Yu, Dr. Chung, n-Lorem Foundation, and European centers—with Nome managing execution
Regulatory expertise navigates FDA submissions and safety approval
Transparent pricing makes development financially predictable
For families post-diagnosis, time matters. Every month spent coordinating vendors, deciphering FDA guidance, and managing institutional handoffs is a month of disease progression. Nome eliminates that burden—managing the process at every stage so families can focus on what matters: getting their child treatment.
The experts in this directory built the scientific foundation. Nome built the system that gets patients treated.
