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Contribution of patients to studies on known genes

​​We are continually connecting physicians or patients/families with ongoing studies on already known rare diseases genes. This enables a better understanding of genotype-phenotype correlations and is the ground work for a better understanding of the underlying pathomechanisms and developing possible future treatment options. In case you are running such a study on a known rare disease gene, you can check ClinVar to see if we have identified patients with variants in your gene of interest. Please contact us directly to see if we can connect you with the referring physician, patient or family.​​


Konrad Platzer

Rami Jamra

Philipp-Rosenthal-Str. 55, Haus W
04103 Leipzig
0341 - 97 23840 (Sprechstunde)
0341 - 97 23800
0341 - 97 23819