Figure 1

Figure 1

Collaborations among clinicians, human geneticists and model organism researchers facilitate diagnosis and studies of undiagnosed conditions. Candidate causative genes and variants identified from a patient with an undiagnosed disease can be explored in a number of genetic model organisms. Using state-of-the-art genome engineering technologies in these model systems, one can assess whether the variants of interest lead to functional consequences in vivo, and obtain phenotypic information that may directly or indirectly relate to the patient’s condition. Integration of biological information from multiple species can be complementary or/and confirmatory.