Skip to Main Content

Decoding genetics & treatment of rare diseases


Scroll to read more

Decoding genetics & treatment of rare diseases

In collaboration with clinicians, we are identifying the genetic causes of hereditary diseases using comparative genomics

Pedigree of a family displaying the phenotypic presentation and the NPRL3 ~38‐kb deletion and PDCD10 c.322C>T, p.Arg108* variant genotypes of the sampled individuals