Isa J. Houwink, M.D., Ph.D.

Besides working as a Family Medical doctor (0.5 FTE), Dr. Houwink holds a position as Associate Professor in Family Medicine (0.5 FTE). The research and educational involvement and interests of Elisa J.F. Houwink, M.D., Ph.D., include prevention, screening and early detection modalities in common and rare diseases and implementing (pharmaco) genetics in primary care practice.

Dr. Houwink focuses on prevention and early detection of common forms of hereditary diseases such as cancer (e.g. breast, ovarian due to mutations such as BRCA1/2 , common cancers such as colon cancer, endometrial cancer and other cancers e.g. Lynch syndrome), cardiovascular disease (hypertrophic cardiomyopathy, long QT, Familial Hypercholesterolemia) and diabetes (e.g. MODY and LADA). But Dr. Houwink also works on studies on earlier detection and prevention of rare diseases in primary care such as hemoglobinopathy and Rett syndrome, which require increased population health management because rare diseases are now seen as public health problem that are in urgent need of improved medical care, awareness and training. Family health history taking and registration, eHealth, AI, Personal Genetic Locker, bioinformatics, education, communication, data-ethics are all part of her mission to bring genetics and pharmacogenetics into primary care practice. Her publication list shows her broad but focused interests, and this is well reflected in her list of educational and scientific presentations.

From 2008 until 2013 she participated in a PhD project at the section Community Genetics, Department of Clinical genetics (VU University Medical Center Amsterdam) under the supervision of prof. Martina Cornel and prof. Geert Jan Dinant (Department of Family Medicine in Maastricht). Her project, funded by CSG Centre for Society and the Life Sciences /Centre for Medical Systems Biology, aimed to reflect on current genomics developments with primary care workers, and to help them identify their learning priorities. On the 20th of December 2013 she defended her thesis "Training in genetics and genomics" Cum Laude (https://research.vumc.nl/en/publications/training-in-genetics-and-genomics-for-primary-health-care-workers).