Molecular Mechanisms of Nano-Rare Diseases, Interventions and Lessons Learned From ASO Treatments
A special issue of Biomolecules (ISSN 2218-273X). This special issue belongs to the section "Molecular Medicine".
Deadline for manuscript submissions: 31 December 2026 | Viewed by 92
Special Issue Editor
Special Issue Information
Dear Colleagues,
Nano-rare mutations are defined as pathogenic mutations with a known WW prevalence of less than 30 patients. Because of the rarity of these patients, they are extremely isolated, typically remain undiagnosed, and if diagnosed, the diagnosis is quite delayed. The extreme rarity also renders the commercial development of treatments extremely unlikely. In response, n-Lorem, a non-profit, was founded in January 2020 to discover, develop, manufacture, and provide individualized bespoke experimental ASOs for free for life in as equitable a fashion as possible. N-Lorem has also invested in establishing a well-informed community for nano-rare patients. From a standing start in 2020, n-Lorem has treated nearly 50 patients, accepted for treatment more than 200 patients, and processed more than 400 applications for treatment. To do this, n-Lorem has taken advantage of the FDA guidance for ASOs to treat nano-rare patients, which supports moving rapidly to treat them with pharmacological data strictly from iPSC-derived and differentiated patient cells (no studies in animal models) and a single rodent three-month toxicology study.
The purpose of this Special Issue is to provide a summary of the industrialized processes n-Lorem has developed to assure safe and effective treatment of patients with ASOs developed under the guidance, summarize our experience and, most importantly, explain the many important lessons learned from these “unique experiments of nature” who provide a unique opportunity to better understand health and disease in patients who express a single pathogenic variable, a definable and understandable single gene mutation. Additionally, we plan to discuss the progress in creating a knowledgeable nano-rare community and discuss the benefits observed and the creation of a path to commercialize ASOs for nan-rare patients.
Dr. Stanley T. Crooke
Guest Editor
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Keywords
- nano-rare mutations
- antisense oligonucleotides (ASOs)
- individualized medicine
- FDA guidance
- patient community
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