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Literature

A curated library of key papers in nucleic acid science.

The papers that built the field. Landmark research on oligonucleotide chemistry, RNA interference, antisense and delivery, each with a short plain language summary and a link to the source.

Key papers

Landmark research, in plain language

RNA interference

Potent and specific genetic interference by double-stranded RNA in Caenorhabditis elegans

Fire A, Xu S, Montgomery MK, Kostas SA, Driver SE, Mello CC · Nature, 1998

The paper that discovered RNA interference. Fire and Mello showed that double stranded RNA, not single strands, is the potent trigger that silences a matching gene in the worm C. elegans. The work revealed a natural gene silencing pathway, earned the 2006 Nobel Prize in Physiology or Medicine, and laid the foundation for every siRNA medicine that followed.

RNA interference

Duplexes of 21-nucleotide RNAs mediate RNA interference in cultured mammalian cells

Elbashir SM, Harborth J, Lendeckel W, Yalcin A, Weber K, Tuschl T · Nature, 2001

The study that made RNA interference usable in human cells. Long double stranded RNA triggers a toxic immune response in mammalian cells, but this work showed that short 21 nucleotide duplexes silence a target gene cleanly without setting off that alarm. It defined the size and shape of the modern synthetic siRNA and opened the door to human therapeutics.

Delivery

Multivalent N-acetylgalactosamine-conjugated siRNA localizes in hepatocytes and elicits robust RNAi-mediated gene silencing

Nair JK, Willoughby JLS, Chan A, Charisse K, Alam MR, Wang Q, et al. · Journal of the American Chemical Society, 2014

The delivery breakthrough that made siRNA drugs practical. Attaching a three armed GalNAc sugar to an siRNA lets liver cells take it up efficiently after a simple injection under the skin, giving durable gene silencing at low doses. GalNAc conjugation is now the backbone of most approved and clinical siRNA medicines.

Antisense

RNA targeting therapeutics: molecular mechanisms of antisense oligonucleotides as a therapeutic platform

Bennett CF, Swayze EE · Annual Review of Pharmacology and Toxicology, 2010

A foundational review of how antisense oligonucleotides work as medicines. It lays out the mechanisms by which an ASO can silence, block or reshape a target RNA, the chemistries that make them stable enough to use, and the pharmacology of the platform. It remains a standard starting point for understanding the ASO field.

Clinical

Nusinersen versus sham control in infantile-onset spinal muscular atrophy

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, et al. · New England Journal of Medicine, 2017

The trial that proved a splice switching antisense oligonucleotide could change the course of a fatal disease. Nusinersen redirects the splicing of the SMN2 gene to restore a working protein in infants with spinal muscular atrophy, dramatically improving survival and motor milestones. It became one of the first widely approved ASO drugs and a landmark for the whole modality.

Reviews

The current state and future directions of RNAi-based therapeutics

Setten RL, Rossi JJ, Han S · Nature Reviews Drug Discovery, 2019

A comprehensive review of RNA interference as a drug class, written as the first siRNA medicines reached the clinic. It covers design, chemical modification, delivery beyond the liver and the clinical pipeline, giving a clear map of where the field stood and the problems still to solve. A useful orientation for anyone entering siRNA drug development.

Chemistry

The medicinal chemistry of therapeutic oligonucleotides

Wan WB, Seth PP · Journal of Medicinal Chemistry, 2016

A detailed survey of the chemical modifications that turn a fragile strand into a medicine. It compares backbone changes, two prime sugar modifications, bicyclic nucleic acids and conjugation strategies, and explains how each affects stability, affinity, potency and safety. An essential reference for designing the modification pattern of an oligonucleotide.

Synthesis

Deoxynucleoside phosphoramidites — a new class of key intermediates for deoxypolynucleotide synthesis

Beaucage SL, Caruthers MH · Tetrahedron Letters, 1981

The chemistry that lets any oligonucleotide be made to order. Beaucage and Caruthers introduced the phosphoramidite method, a fast and reliable way to build DNA one base at a time on a solid support. It became the universal standard for oligonucleotide synthesis and underpins every custom oligo ordered today, including those made by Syngenis.

Reviews

RNA-targeted therapeutics

Crooke ST, Witztum JL, Bennett CF, Baker BF · Cell Metabolism, 2018

A broad review of drugging RNA rather than protein. It brings together antisense oligonucleotides, siRNA and related approaches, explaining the shared logic of recognising a target sequence and the pharmacology, safety and delivery challenges common to all of them. A good single reference for the RNA targeted drug landscape.

Aptamers

In vitro selection of RNA molecules that bind specific ligands

Ellington AD, Szostak JW · Nature, 1990

The paper that introduced aptamers. Ellington and Szostak showed that specific RNA molecules can be selected from a vast random library to bind a chosen target, coining the term aptamer. This in vitro selection idea, later called SELEX, underpins aptamer based diagnostics and therapeutics, including the Syngenis aptamer diagnostics pipeline.

Put it into practice

Design your candidate on Syngenis One

Take the science behind these papers from theory to a synthesis ready oligo in one guided workflow.