Dr. Ueffing has developed research strategies to combine bioanalytic, proteomic, functional genomics and computational research towards investigation of disease mechanisms and markers. His efforts impact clinical proteomics towards understanding and targeting mechanisms of a number of debilitating diseases.
Marius Ueffing has recently co-discovered 3 new rare diseases as ciliopathies using proteomic methods, and he has applied translational bioanalytical and computational approaches towards better diagnostics and therapies for oncological, neurological and neurosensory diseases with a strong focus on uncovering molecular mechanism. In addition, Dr. Ueffing has discovered that the mutant Parkinson disease associated LRRK2 acts as a protein kinase perturbing vesicular trafficking in CNS neurons that has exploited by initiating pharmacological strategies to target LRRK2. Mapping and functionally characterizing large protein networks associated with Parkinson’s disease, syndromic ciliopathies and retinal degeneration, Dr. Ueffing and coworkers have contributed to understand disease on a molecular level and have enabled development of differential clinical diagnosis based on understanding of the impact of mutations and risk variants associated with these diseases discovering new targets for intervention. These achievements allow improved risk prediction and patient stratification according to molecular constraints and rational strategies for therapy development accompanied, and supported, by protein based biosignatures. Dr. Ueffing’s significant contributions to clinical translational efforts utilizing proteomics makes him a most worthy winner of the 2019 HUPO Clinical and Translational Proteomics award.
About HUPO
The Human Proteome Organization (HUPO) is an international scientific organization representing and promoting proteomics through international cooperation and collaborations by fostering the development of new technologies, techniques and training. HUPO was launched on February 9, 2001. On that date, a global advisory council was officially formed that included leading global experts in the field of proteomics from the academic, government, and commercial sectors. Over the next 12 months, the council, in consultation with industry, identified major proteomics issues and initiatives that needed to be addressed by HUPO. Since its inception, HUPO has received substantial financial assistance from Genome Quebec, Montreal International, McGill University, the National Institutes of Health, and pharmaceutical companies, among others. In addition, it has benefited from considerable in-kind contributions of time and energy from HUPO Council members, research institutes, and pharmaceutical company partners around the world.
More information about the HUPO: https://www.hupo.org/What-is-Proteomics