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Therapeutic Advances in Rare Disease Template

Write in a clean editor, then format for Therapeutic Advances in Rare Disease in one click — DocuGuru applies the official SAGE template with author–year references and exports a submission-ready PDF plus the editable LaTeX source. Free to start.

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About the Therapeutic Advances in Rare Disease format

Therapeutic Advances in Rare Disease is a peer-reviewed journal published by SAGE, covering Genomics and Rare Diseases, Lysosomal Storage Disorders Research, Genetics and Neurodevelopmental Disorders.

PublisherSAGE
Reference styleAuthor–year (Harvard)
Author–year — (Smith, 2023) in the text
Smith, A., Jones, B. and Lee, C. (2023) 'A representative article title', Therapeutic Advances in Rare Disease, 12(3), pp. 45–58.

Formats any DOI in Therapeutic Advances in Rare Disease style. No sign-up.

Publishes research inGenomics and Rare Diseases Lysosomal Storage Disorders Research Genetics and Neurodevelopmental Disorders Health Systems, Economic Evaluations, Quality of Life Metabolism and Genetic Disorders
ISSN2633-0040
Citation impact (2-yr)2.04
h-index14
i10-index19
Total citations682
Open accessYes
Top institutions publishing hereBoston Children's Hospital
Journal websiteus.sagepub.com
You getA submission-ready PDF and the editable LaTeX source — ready to submit.

Papers published in Therapeutic Advances in Rare Disease per year

6
2020
16
2021
16
2022
17
2023
43
2024
24
2025

Citation impact of Therapeutic Advances in Rare Disease by publication year

109
2020
161
2021
113
2022
135
2023
120
2024
29
2025

Citations each year’s papers have accumulated so far — the most recent years are still building up.

Most-cited papers in Therapeutic Advances in Rare Disease

Congenital cataract: a guide to genetic and clinical management

Suzannah Bell, Ngozi Oluonye, Philippa Harding et al. · 1 Jan 2020

Worldwide 20,000-40,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. Variants in genes involve lens-specific proteins or…

61 citations Cite SaveGo to paper →
Emerging roles and opportunities for rare disease patient advocacy groups

Amy M. Patterson, Megan O’Boyle, Grace E. VanNoy et al. · 1 Jan 2023

Background: Patient advocacy groups (PAGs) serve a vital role for rare disease patients and families by providing educational resources, support, and a sense of community. Motivated by patient need, PAGs are increasingly at the forefront of policy, research, and drug development for their disease of interest. Objectives: The study explored the current landscape of PAGs…

58 citations Cite SaveGo to paper →
They’ve been BITTEN: reports of institutional and provider betrayal and links with Ehlers-Danlos Syndrome patients’ current symptoms, unmet needs and healthcare expectations

Jennifer Langhinrichsen‐Rohling, Chrystal L. Lewis, Sean McCabe et al. · 1 Jan 2021

Introduction: Patients with rare and/or care-intensive conditions, such as Ehlers-Danlos Syndrome (EDS), can pose challenges to their healthcare providers (HCPs). The current study used the BITTEN framework 1 to code EDS patients’ open-ended written responses to a needs survey to determine their self-reported prevalence of healthcare institutional betrayal and its link with their expressed symptoms,…

32 citations Cite SaveGo to paper →
Therapeutic and diagnostic advances in Stickler syndrome

Martin P. Snead, Howard Martin, Peter Bale et al. · 1 Jan 2020

The Stickler syndromes are the leading cause of inherited retinal detachment and the most common cause of rhegmatogenous retinal detachment in childhood. The clinical and molecular genetic spectrum of this connective tissue disorder is discussed in this article, emphasising the key role the ophthalmologist has to play in the identification, diagnosis and prevention of blindness…

30 citations Cite SaveGo to paper →
Future of genetic therapies for rare genetic diseases: what to expect for the next 15 years?

Luiza Amara Maciel Braga, Carlos Gilbert Conte Filho, Fábio Batista Mota · 1 Jan 2022

Introduction: Rare genetic diseases affect millions of people worldwide. Most of them are caused by defective genes that impair quality of life and can lead to premature death. As genetic therapies aim to fix or replace defective genes, they are considered the most promising treatment for rare genetic diseases. Yet, as these therapies are still…

26 citations Cite SaveGo to paper →

Therapeutic Advances in Rare Disease template — frequently asked questions

How do I write a paper in the Therapeutic Advances in Rare Disease format?
In DocuGuru you write your manuscript in a normal editor — no LaTeX setup required — and select the Therapeutic Advances in Rare Disease template. When you export, DocuGuru compiles the paper into the official SAGE format and hands you a submission-ready PDF along with the editable LaTeX source.
What reference style does Therapeutic Advances in Rare Disease use?
Therapeutic Advances in Rare Disease uses Author–year (Harvard) references, shown as author–year markers such as (Smith, 2023) in the text. DocuGuru formats every in-text citation and the reference list in this exact style automatically. A reference appears like this: Smith, A., Jones, B. and Lee, C. (2023) 'A representative article title', Therapeutic Advances in Rare Disease, 12(3), pp. 45–58.
Do I need to know LaTeX to submit to Therapeutic Advances in Rare Disease?
No. DocuGuru generates the sagej LaTeX class and compiles the PDF for you in the background, so you get a SAGE-ready Therapeutic Advances in Rare Disease document without writing any LaTeX. If you do want it, the LaTeX source is included in the export.
Can I import an existing draft into the Therapeutic Advances in Rare Disease template?
Yes. Paste or upload your current manuscript — Word, LaTeX, Markdown, or plain text — and DocuGuru reflows it into the Therapeutic Advances in Rare Disease format with correct headings, figures, tables, and author–year citations.
Who publishes Therapeutic Advances in Rare Disease?
Therapeutic Advances in Rare Disease is a multidisciplinary journal published by SAGE. DocuGuru's Therapeutic Advances in Rare Disease template matches SAGE's official submission format.
Can I export a submission-ready Therapeutic Advances in Rare Disease PDF?
Yes — DocuGuru produces a PDF built with the official Therapeutic Advances in Rare Disease template (the sagej class) that is ready to submit to SAGE, together with the matching LaTeX source files.
How much does the Therapeutic Advances in Rare Disease template cost?
You can start writing in the Therapeutic Advances in Rare Disease template for free. Exporting the final submission-ready Therapeutic Advances in Rare Disease PDF and LaTeX source is part of DocuGuru's paid plans — see the app for current pricing.
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