Table 5.

A subset of global diagnostic programs for individuals with rare or unsolved genetic diseases

Program	Country/region	Website
Rare and Undiagnosed Diseases Diagnostic Service148	Australia	https://www.australiangenomics.org.au/research/the-australian-undiagnosed-diseases-network/
Care4Rare Canada149	Canada	https://www.care4rare.ca/
RD-Connect150	Europe	https://rd-connect.eu/
Solve-RD	Europe	https://solve-rd.eu/
National Center for Rare diseases (NCRD)151	Italy	https://www.udnpitaly.com/pagine-13-about_us
The Initiative on Rare and Undiagnosed Diseases (IRUD)152	Japan	https://www.amed.go.jp/en/program/IRUD/
Korean Undiagnosed Diseases Program (KUDP)153	Korea	n/a
Rare Disease Genomics in South Africa	South Africa	https://www.sun.ac.za/english/faculty/healthsciences/Molecular_Biology_Human_Genetics/rare-disease_genomics/research-projects
SpainUDP154	Spain	https://spainudp.isciii.es/home/
Deciphering Developmental Disorders155	United Kingdom	https://www.ddduk.org/
Genomics England156	United Kingdom	https://www.genomicsengland.co.uk/
GREGoR Consortium	United States	https://gregorconsortium.org/
Undiagnosed Diseases Network19	United States	https://commonfund.nih.gov/diseases/

Not all programs remain active. Table adapted from Cloney et al.¹⁵⁷