Primary ciliary dyskinesia: a big data genomics approach

How can the real-life frequency of a complicated condition that occurs irregularly, with a clinically variable presentation that is often difficult to diagnose, be calculated? This is a challenge for understanding the societal and medical impacts of an estimated 7000 rare disorders (those affecting more than one in 2000 people each) that can be poorly understood and often missed, especially if lacking clear-cut indicatory tests. The collective rare disease burden affects over one in 20 people, involving a disparate range of health-care services and creating unmet medical needs with potential for incorrect management. Better diagnostics and disease prevalence estimates are key to improving inequalities for millions of affected families worldwide