Addressing the needs of nano-rare patients: the n-Lorem experience
Year: 2026
Type: review
Abstract: Patients with extremely rare pathogenic variants pose unique challenges to current healthcare systems. Nano-rare mutations have been defined as mutations with a known prevalence of <30 patients worldwide, but because of the small fraction of humans who have undergone genetic testing, neither the precise prevalence of individual mutations nor the total prevalence of patients with nano-rare mutations is known. n-Lorem is a non-profit founded in 2020 with the mission of equitably discovering, developing, and providing bespoke experimental antisense oligonucleotides (ASOs) for free, for life, to patients with nano-rare mutations that are amenable to ASO treatment. In this perspective, we provide an overview of the n-Lorem processes and systems, the characteristics of the first 329 patients who have applied for treatment for whom initial assessment was completed and suitability for ASO treatment determined, and a summary of the results of ASO treatment for patients treated to date. Detailed data on individual patients and the overall clinical safety and tolerability profiles of the ASOs for which there are clinical data are the subjects of other manuscripts.
Source: Nucleic Acids Research
DOI: 10.1093/nar/gkag504
Authors: Stanley T Crooke, Sarah Glass, Joseph G Gleeson, Laurence Mignon, Konstantina Skourti-Stathaki, Julie Douville, Megan Knutsen, He Pu, Jennifer M Bain, Elizabeth Berry-Kravis, Neil A Shneider, Olivia Kim-McManus, Florian S Eichler, Wendy K Chung, Amanda Nagy, Horacio Kaufmann, Alejandra Gonzalez-Duarte, Björn Oskarsson, Emily A McCourt, Nelson Leung
Institutions: University of California San Diego, Rady Children's Institute for Genomic Medicine, Columbia University Irving Medical Center, Rush University Medical Center, Harvard University, Massachusetts General Hospital, Boston Children's Hospital, New York University, NYU Langone Health, Mayo Clinic in Florida, Children's Hospital Colorado, University of Colorado Anschutz, Mayo Clinic
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,992
OpenAlex ID: W7163158109