Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force

Authors

• Melissa A. Parisi, National Institute of Child Health and Human Development (NICHD)
• Adam L. Hartman, National Institute of Neurological Disorders and Stroke
• Mary Catherine V. Letinturier, Inserm
• Elena Alexandra Tataru, Inserm
• Victoria Antoniadou, Alliance for Rare Disorders
• Gareth Baynam, King Edward Memorial Hospital for Women
• Lara Bloom, Ehlers-Danlos Society
• Marco Crimi, Net Medicare SRL
• Maria G. Della Rocca, Global Genes
• Giuseppe Didato, Foundation IRCCS Neurological Institute "C. Besta"
• Sofia Douzgou Houge, Haukeland Universitetssjukehus
• Anneliene H. Jonker, Universiteit Twente
• Martina Kawome, Sally Mugabe Central Hospital
• Friederike Mueller, Asklepios Hospital Luebben
• James O’Brien, International Prader Willi Syndrome Organisation (IPWSO)
• Ratna Dua Puri, Sir Ganga Ram Hospital
• Nuala Ryan, NCBRS (Nicolaides-Baraitser Syndrome) Worldwide Foundation
• Meow Keong Thong, Universiti Malaya

Document Type

Review

Publication Date

1-1-2026

Publication Title

Therapeutic Advances in Rare Disease

DOI

10.1177/26330040261427023

Recommended Citation

Parisi, Melissa A.; Hartman, Adam L.; Letinturier, Mary Catherine V.; Tataru, Elena Alexandra; Antoniadou, Victoria; Baynam, Gareth; Bloom, Lara; Crimi, Marco; Della Rocca, Maria G.; Didato, Giuseppe; Douzgou Houge, Sofia; Jonker, Anneliene H.; Kawome, Martina; Mueller, Friederike; O’Brien, James; Dua Puri, Ratna; Ryan, Nuala; and Thong, Meow Keong, "Challenges and opportunities for the use of telehealth in rare disease diagnosis, treatment, research, and education: key opinion leader interviews by the IRDiRC telehealth task force" (2026). Research Publications (2026 to 2030). 384.
https://knova.um.edu.my/research_publications_2026_2030/384

Volume

7