You are here

Delays in shipping: Due to current delays in our warehouse shipping services, please expect longer than usual delivery times for any print book and journal orders.  If you require instant access to a book, please consider purchasing a digital copy via an alternative online retailer.

For instructors, only digital inspection copy requests are available. If you require a print inspection copy, please contact your local Academic Sales Consultant.

For further assistance please visit our Contact us page. Thank you for your patience and we apologise for the inconvenience.

Therapeutic Advances in Rare Disease

eISSN: 26330040 | ISSN: 26330040 | Current volume: 4 | Current issue: 1 Frequency: Yearly

Journal Highlights

  • Launched in 2020
  • Gold open access journal – all articles are made freely available online immediately upon publication
  • Rigorous peer review
  • Free to publish in for an introductory period
  • Reaches a broad, multidisciplinary audience

Therapeutic Advances in Rare Disease (TAIRD) is a peer-reviewed open access journal which focuses on the highest quality research, reviews and scholarly comment on pioneering efforts and innovative studies across all rare diseases. The journal has a strong clinical and pharmacological focus and is aimed at clinicians and researchers, providing an online forum for publishing the highest quality articles in this area. Please see the Aims and Scope tab for further information.

Diversity, Equity and Inclusion StatementTherapeutic Advances in Rare Disease (TAIRD) promotes inclusive, open science that reflects the disciplinary, human, and geographic diversity of the rare disease community.

Diversity as a core value embodies inclusiveness, mutual respect, and multiple perspectives.

We welcome editors, editorial board members, peer reviewers and authors from all backgrounds, cultures, ethnicities, nationalities, races, religions, sexes, sexual orientations, gender identities, mental or physical (dis)abilities, ages, career stages, socioeconomic status or any other individual status.

We are committed to continually improving our editorial and review processes whilst playing our part in eradicating bias and inequality in all forms.

Submission information

Submit your manuscript today at

Please see the Submission Guidelines tab for more information on how to submit your article to the journal.

Open access information

This journal does not currently charge an article processing charge (APC) for open access publication. The article processing charge for a Plain Language Summary of Publication is $4500.


Please direct any queries to

Therapeutic Advances in Rare Disease delivers the highest quality peer-reviewed articles, reviews, and scholarly comment on the diagnosis and medical treatment of rare diseases and orphan drugs. The journal has a strong research and clinical focus and is aimed at clinicians, researchers in both academia and healthcare industries, as well as manufacturers through to policy-makers, providing an online forum for publishing the highest quality articles in this area.


The editors welcome original research articles across all areas of rare disease including:

· Clinical genetics and genomics

· Dysmorphology

· Ethical and legal perspectives

· Inherited metabolic diseases

· Lysosomal storage diseases

· Mitochondrial Diseases

· Orphan Drugs

· Rare bone diseases and skeletal dysplasias

· Rare cardiovascular diseases

· Rare coagulation diseases

· Rare endocrinological diseases

· Rare gastrointestinal diseases

· Rare immune deficiencies

· Rare infectious diseases

· Rare kidney diseases

· Rare neurological diseases

· Rare ophthalmological diseases

· Rare respiratory diseases

· Rare skin diseases

· Rare tumors

· Regulatory, reimbursement and government policy

Therapeutic Advances in Rare Disease conforms to the ICMJE requirement that clinical trials are registered in a WHO-approved public trials registry at or before the time of first patient enrolment as a condition of consideration for publication. The trial registry name and URL, and registration number must be included at the end of the abstract.

The journal is dedicated to publishing clinical research. We do not publish preclinical research, including basic laboratory research and animal studies.

Review articles include expert opinion/perspective reviews (including single-drug and drug class reviews), narrative reviews and therapeutic area reviews. Systematic reviews, meta-analyses, postmarketing and health economic and pharmacoeconomic reviews are also welcomed. The appropriate EQUATOR Network reporting guidelines should be follows (e.g. CONSORT for randomized, controlled trials and PRISMA for systematic reviews/meta-analyses).

Editor in Chief
Tiina Urv PhD Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, NIH, Bethesda, USA
Managing Editor
Samantha Taylor SAGE Publishing, London, UK
Assistant Managing Editor
Suvra Moulick SAGE Publishing, New Delhi, India
Associate Editor
Claudia A. Chiriboga MD, MPH Columbia University Irving Medical Center, New York, USA
Alice Chen Grady MD Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, NIH, Bethesda, USA
Larissa Kerecuk MBBS, BSc Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
Jemima Mellerio MD St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation Trust, London, UK
Katrin Õunap MD, PhD University of Tartu and Tartu University Hospital, Tartu, Estonia
Maurizio Scarpa MD, PhD Center for Rare Diseases, Udine University Hospital, Udine, Italy
Marcela Votruba BM BCh, BA, MA Vision Sciences, Cardiff University, UK
Editorial Board
Annemieke Aartsma-Rus PhD Leiden University Medical Center, Leiden, The Netherlands
Dionysios Alexandrou MD MD Res Moorfields Hospital NHS Trust, London, UK
Guilherme Baldo PharmD PhD Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
John Bladen BSc PhD Kings College Hospital NHS Foundation Trust, London, UK
Roberto Giugliani MD PhD MSc Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
Andrea Gropman, MD Children's National Medical Center, Children's Research Institute, Washington DC, USA
Jeanine Jarnes PharmD BCOP BCPS University of Minnesota, MN, USA
Mariya Moosajee BSc PhD University College London, London, UK
Mukund Nori BSc MSc PhD rareLife solutions, South Norwalk, CT, USA
Daniele Orsucci MD Unit of Neurology, San Luca Hospital, Lucca, Italy
Arrigo Schieppati MD PhD Rare Disease Unit, Ospedale Papa Giovanni XXIII, Bergamo, Italy
Willeke van Roon-Mom PhD Leiden University Medical Center, Leiden, The Netherlands
Patient Advisory Board
Jasmin Barman-Aksözen International Porphyria Patient Network, Zurich, Switzerland
Daniel O’Reilly RNA Therapeutics Institute, UMass Medical School, MA, USA
Simon Stones Collaboro Consulting, Manchester, UK
Russell Wheeler Leber's Hereditary Optic Neuropathy Society, UK
Laurence Woollard On The Pulse Consultancy Ltd, Cambridge, UK
Rising Stars in Rare Disease
Ariadna Bargiela PhD University of Valencia, Valencia, Spain
Marc Micó-Carnero BSc, MSc August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain
Annalisa Sechi MD, PhD Regional Coordinating Centre for Rare Diseases, University Hospital of Udine, Udine, Italy
Kuntal Sen MD, FACMG Children’s National Hospital, Washington, D.C., USA
  • PubMed Central (PMC)
  • Scopus

Manuscript submission guidelines can be accessed on Sage Journals.