In June 2003, Dr. Brunhilde Wirth - from the Institute of Human Genetics, Bonn - was appointed C4 Professor of Human Genetics and founded a new Institute of Human Genetics at the University Hospital of Cologne. The institute commenced operations in May 2004 with 23 employees. In December 2004, Dr. Christian Kubisch from the Institute of Human Genetics in Bonn is appointed to the W2 professorship for Medical Genetics at the Institute. He heads Clinical Genetics until Aug. 2010, when he moves to Ulm to become Director of the Institute of Human Genetics. In Aug. 2012, the ZMMK working group leader, Dr. Bernd Wollnik, takes over the professorship for Medical Genetics at the Institute. Prof. Bernd Wollnik also heads the newly founded Center for Rare Diseases at the University Hospital of Cologne. In Sept. 2015, Prof. Bernd Wollnik becomes Director of the Institute of Human Genetics at the University of Göttingen. In fall 2016, the Faculty of Medicine decided to upgrade the existing W2 professorship to a W3 professorship for Clinical Genomics. Prof. Dr. Christian Patrick Schaaf from Baylor College of Medicine in Houston, Texas, USA, was appointed to this professorship and moved to Cologne in March 2018. Prof. Schaaf became Head of Patient Care at the Institute of Human Genetics. In April 2019, Christian P Schaaf moves to the University of Heidelberg, where he takes over as Head of the Institute of Human Genetics. In April 2019, Prof. Dr. Christian Netzer took over as Head of Patient Care at the Institute.

The Institute's main areas of activity are research, teaching, molecular genetic diagnostics and human genetic counseling. The Institute's six research groups use state-of-the-art methods to investigate the causes of genetic diseases in national and international networks. Particular areas of focus are neuromuscular diseases, autism, neurological developmental disorders, unexplained syndromes, kidney diseases, skeletal diseases and lipid metabolic diseases

The Institute's bridging function between the Faculty of Medicine and the Faculty of Mathematics and Natural Sciences at the University of Cologne signals the close cooperation between the two faculties. Prof. Brunhilde Wirth teaches at both faculties and, in addition to the right to award doctorates at the Faculty of Medicine, also has the right to award doctorates (Dr. rer. nat.) at the Faculty of Natural Sciences.

All academic staff are involved in teaching. We have a lot of fun trying to convey human genetics as an overarching and future-oriented subject to students in the Faculty of Medicine and the Faculty of Mathematics and Natural Sciences.

Prof. Dr. Christian Netzer is head of genetic counseling and molecular genetic diagnostics. The institute is an important partner in the Center for Rare Diseases in Cologne (ZSEK).

Since 2009, some of the human genetic services have been provided in cooperation with the MVZ of Cologne University Hospital under the direction of Prof. Dr. Christian Netzer.

In cooperation with the practice for human genetics Dr. Dieter Meschede and Dr. rer. nat. Regine Schubert, the Institute has full authorization for further training as a specialist in human genetics and as a specialist human geneticist (GfH).