Senior Clinical Investigator

Transcription

1 Senior Clinical Investigator Elfride De Baere Center for Medical Genetics, Ghent University, Belgium FKM symposium Brussels 20 November 2014

2 Curriculum vitae current current Master in Medicine, Ghent University (UGent) Medical degree (M.D.), UGent FWO Doctoral Fellow Residency in Ophthalmology, Ghent University Hospital GUH (Prof. JJ Delaey) Doctoral degree (Ph.D.) in Medical Sciences (Prof. A De Paepe; Prof. L Messiaen), UGent Visiting Post-doctoral Fellowship, U709 INSERM, Paris, France (Prof. R Veitia) FWO Post-doctoral Fellow Residency in Clinical Biology, GUH (Prof. G Leroux-Roels) Recognition in Clinical Biology Supervisor DNA Laboratory, CMGG, GUH Associate Professor, UGent Head of DNA Laboratory, CMGG, GUH FWO Senior Clinical Investigator, first term Full Professor, UGent FWO Senior Clinical Investigator, second term Common denominator = FWO

3 Center for Medical Genetics Ghent Multidisciplinary team: ~ Outpatient clinic MDs Psychologists Counselors Nurses Administration Students Laboratory MDs Staff scientists Technicians ICT Administration PhD student Post-docs Students Senior Clinical Investigator (FKM): 8/10 physicians

4 Center for Medical Genetics Ghent Royal Decree 1987 : 8 centers for human genetics in Belgium Tasks of centers for medical genetics: Genetic consultations: diagnosis and advice(counseling) Psychological support Genetic testing Research Registration data Teaching, education

5 Disease- and patient-oriented research on genetic diseases

6 Disease- and patient-oriented research on genetic diseases Many genetic diseases are caused by errors (mutations) in many possible genes: - Blindness (> 120 genes) -Deafness(> 100 genes) - Muscular diseases (~140 genes) - Intellectual disability (~1500 genes) Need for performant genetic test for these conditions One by one testing of these genes is expensive and timeconsuming Solution is medical genome analysis

7 Medical genome analysis: Reading of DNA or sequencing

8 Whole exome sequencing (WES) Exome = protein coding part of genome (~1%) WES = reading of all protein coding DNA in 1 experiment

9 Genome analysis by WES: find the culprit

10 Genome analysis in blindness 2014 WES in consanguineous families with blindness

11 Clinical impact of genome analysis in blindness Prenatal testing New treatments Clinical applications in blindness thanks to performant genetic strategies developed in FKM

12 Impact of my FKM research on healthcare and society Identification of new genes and mechanisms New diagnostic tests, clinical guidelines Diagnosis, prognosis Reproductive options PND, PGD, non-invasive strategies Therapeutic strategies New targets New treatments for genetic diseases (gene therapy, small molecules, pharmacotherapy)

13 Personal view on FKM Strengths Coupled to appointment in university hospital Importance of clinical practice : clinical research questions, translation Facilitates establishment of solid research line in agreement with clinical expertise of grant holder Caveats Replacements of physician-scientist in clinic (50% position) : specific expertise required Negative perception of FKMs in some clinical departments, misuse of mandates for purely clinical tasks Funding canals for clinically oriented research: rather limited (e.g. IWT-TBM) No working expenses: relies on external funding

14 Opportunities Personal view on FKM Strong embedding in clinical department and hospital (e.g. Sector, Ethics Committee) Strong embedding in academic environment, faculty and university (e.g. Doctoral Committee, Faculty Council, Research Council, etc) Societal engagements (e.g. College of Genetics) Head of departments and hospital directions: facilitating role Bottlenecks Limited duration of the mandate: risk of evaporation of established research line after y. Lifelong and/or full-time positions for number of physician-scientists should be advocated. Delicate balance between clinical practice and research ( clinical duties always come first ). FKM should be represented in a wide range of disciplines.

15 Concluding remarks FKM is very important for my career as clinician-scientist It offers a unique opportunity to establish clinical research in innovative fields of human genetics It allowed a strong embedding in hospital, faculty of medicine & university, scientific community and society Finding the balance between clinical and academic tasks, and research remains a difficult exercise Clinician-scientist position promotes the translation of basic research to clinic and society Concern: end of mandate, end of research?

16 Thank you for your attention Contact: