Diagnosing Rare Diseases: Advances and Challenges

Dear Colleagues, 

Approximately 250 new rare diseases are discovered each year, being subtypes of more common diseases with a newly identified rare genetic variant as the cause. There are 10,000 identified rare diseases affecting 25 to 30 million Americans. USD 966 billion were spent on rare diseases in 2019. Nature Genetics’ March 7th issue cover reads “Matching facial phenotypes of rare disorders” to briefly introduce the GestaltMatcher, described in the same issue, designed to decipher 1,100 rare disorders from clinical face phenotype descriptors. Interdisciplinary diagnoses will prevent the generation of data silos built around single or small groups of rare diseases. Electronic health records with annotations for rare-disease-related phenotypes can generate real-world-data-derived resources such as open annotation for rare diseases (OARD).  Data are essential for prioritizing research based on disease burden, accelerating diagnoses, maximizing therapeutic benefits, and reducing inefficiencies. The use of genomics in healthcare should also strive for equity and sustainability to reduce health disparities.

Dr. Mina Tabrizi
Dr. Saeed Talebi
Guest Editors

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