Progress, Challenges, and Global Approaches to Rare Diseases.

Groft, Stephen C; Posada, Manuel; Taruscio, Domenica

Rare diseases occur globally during 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 than1 in 2000 people).However, more than 90 percent of rare diseases have no effective treatments available . A need exists to expand awareness, advocacy, and outreach to everyone including those with low incomes, poor literacy, minority ethnic status, and living in underserved and marginalized 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 programs 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 patterns of disease occurrence, predict disease progression, identify patient response to treatments, establish optimal care guidelines and generate research hypotheses with narrowly identified research patient populations.