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Progress, challenges and global approaches to rare diseases
Author(s) -
Groft Stephen C.,
Posada Manuel,
Taruscio Domenica
Publication year - 2021
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/apa.15974
Subject(s) - medicine , outreach , european union , psychosocial , disease , orphan drug , ethnic group , rare disease , gerontology , family medicine , economic growth , psychiatry , pathology , bioinformatics , business , biology , economics , economic policy , sociology , anthropology
Rare diseases occur globally at every stage of life. Patients, families and caregivers have many unmet medical and social needs leading to extraordinary psychosocial and economic burdens. Efforts to improve diagnostic capabilities and to develop therapies for an estimated 7000 rare diseases have met with considerable success. In the United States, a rare disease or condition is one affecting fewer than 200,000 people. In the European Union (EU), a rare disease is any disease affecting fewer than 5 people in 10,000 (less than 1 in 2000 people). However, there are no effective treatments for 90 per cent of rare diseases. There is a need to expand awareness, advocacy and outreach to everyone including those with low incomes, poor literacy, minority ethnic status and living in underserved and marginalised populations in urban and rural areas as well as in developing nations throughout the world. The acceptance of patients as research partners complements the increased research emphasis and major regulatory initiatives leading to expedited review and approval programmes for products for serious or life‐threatening conditions. The pipeline of new therapies provides hope to untreated patients. Advances in medical bioinformatics, artificial intelligence and machine learning with access to big data continue to identify novel therapeutics for screening and evaluation. Advanced analytics can identify the patterns of disease occurrence, predict disease progression, identify patient response to treatments, establish optimal care guidelines and generate research hypotheses with the narrowly identified research patient populations.