Children with Rare Diseases: From Therapeutic Orphans to Pioneers of Personalized Medicine
In this Leibniz Lecture, Prof. Christoph Klein, Hospital Director of the Dr. von Haunersches Kinderspital, focused on children with rare diseases. He addressed how the discovery of rare genetic variants in children with inherited diseases has revealed novel therapeutic targets and innovative therapies.
Fewer than five in 10,000 children suffer from rare and devastating diseases caused by genetic defects, often without hope for curative therapy. These children have long been neglected in science and medicine, and they belong to the weakest of the weak in our societies. Recent advances in technology, the completion of the human genome project, and increased awareness on a global level may hold promise for these patients. Prof. Klein addressed how the deciphering of the underlying genetic causes of rare diseases will open new horizons for the development of innovative therapies. Patients with rare diseases may also represent the avant-garde in the journey towards personalized medicine, characterized by tailoring diagnosis and therapy to the needs of the individual patient, based on knowledge of individual traits of their genome.
Prof. Klein received the Gottfried Wilhelm Leibniz Prize, the highest honor awarded in German research, in 2010. The prize, which was established in 1985 and is valued of up to €2.5 million, provides an unparalleled degree of freedom to outstanding scientists and academics to pursue their research interests. It is conferred by the German Research Foundation (DFG).