Community Genetics » Onderzoek

Huidige onderzoeksprojecten

Eerdere onderzoeksprojecten

Proefschriften

SIMPATHIC: Accelerating drug repurposing for rare neurological, neurometabolic and neuromuscular disorders by
exploiting SIMilarities in clinical and molecular PATHology
Project leaders: Peter Bram ‘t Hoen (RadboudUMC), Clara van Karnebeek (AmsterdamUMC)
Project members: Martina Cornel, Tessel Rigter and other SIMPATHIC Consortium members
EC Horizon program 06 2023-2028

PRESAGE: Public Realm Entrance and Societal Alignment of Germline Editing
Project leader: S. Riedijk (ErasmusMC)
Project members: M.C. Cornel, L. Henneman, C.G. van El and other PRESAGE Consortium members
PhD students: W. Geuverink, C.I. Iglesias Y Duro
NWO NWA 2022-2026

PROPHET: A Personalized Prevention Roadmap for the Future Healthcare
Project member: C.G. van El and other PROPHET Consortium members
PhD student: L. Kreeftenberg
EC Horizon Program 2.1 2022-2026

ERUDIGIT: Empowering citizens for responsible use of direct to consumer genetic testing
Project leaders: T. Rigter, M.C. Cornel
PhD student: D. Bruins
ZonMW 2022-2026

DNA-screening: onderzoek naar de morele aanvaardbaarheid, voorwaarden en rol van de overheid
Project leader: M. Plantinga (UMC Groningen)
Project member: L. Henneman
PostDoc: Jacobien Niebuur
ZonMW 2022-2023

IMITAS: IMplementation of fIrst Trimester Anomaly Scan
Projectleaders: M. Bekker (UMCU), M. Haak (LUMC)
Project members: L. Henneman and other IMITAS Consortium members
PhD students: K. Bronsgeest (LUMC), E. Lust (UMCU)
ZonMw 2020-2024

AFFIRM study: Prediction of adverse pregnancy outcome by fetal fraction measurement in NIPT
Project supervisors: M.E. Bekker (UMCU), L. Henneman, P. Scheffer (UMCU), E. Schuit (UMCU).
PhD student: E. Becking
ZonMw project 2020-2024

Emerging challenges of expanding non-invasive prenatal testing
Projectsupervisors: P. Borry (KU Leuven), L. Henneman, J. Vermeesch (KU Leuven)
PhD student: Z. Claesen (KU Leuven)
Project 2020-2023

EXACT: European network staff Exchange for integrAting precision health in the health Care sysTems
Projectmember: C.G. van El
European Commission Grant 2019-2024

PANDA study: Psychosocial aspects of newborn bloodspot screening
Project leader: L. Henneman
Investigators: T. van Dijk, A. Kater, L. van den Heuvel
ZonMw 2019-2022

WGS-first approach: “one-test fits all” to diagnose children with rare genetic disorders
Project supervisors: L. Vissers (RadboudUMC), J.K. Ploos van Amstel (UMCU), G. Frederix (UMCU), L. Henneman
PhD student: R.A.C. Olde Keizer (UMCU)
ZonMw 2017-2021

PCS: Preconception carrier screening in the Netherlands: advantages and consequences,
societal support and ethical framework
Project leader: L. Henneman
Investigator: A. Woudstra, L. van den Heuvel, D. Klein
ZonMw 2020-2021

Dynamics of Reproductive technologies
Project leader: L. Henneman, P. Lakeman, M.C. Cornel, S. Repping
Investigator: I. van Dijke
Amsterdam Reproduction & Development 2017-2021

TRIDENT study: Trial by Dutch laboratories for Evaluation of Non-Invasive Prenatal Testing
NIPT Consortium
Investigators Community Genetics: L. Henneman & K. van der Meij
ZonMw 2014-2021

Ethical and legal issues of Personalised Medicine (ELSI-PM)
Project leader: M.C. Cornel
Investigators: T. Rigter
ZonMw 2018-2020

Pharmacogenetics DPD pilot
Project leader: M.C. Cornel
Investigators: F.Martens, T. Rigter
Amsterdam Public Health, Personalised Medicine Grant 2019

VIMP Preconceptie dragerschaponderzoek Op Maat (POM)
Project leader: L. Henneman
Investigators: M. Jansen
ZonMW 2018-2019

Personalised Medicine: eligible or not?
Project leader: M.C. Cornel, W. Rodenburg
Investigator: M. Jansen, T. Rigter
RIVM/ZonMw 2014-2017

PREvention of Chronic DIseases: PRECeDI
Project leader: M.C. Cornel
Investigator: C.G. van El
European Commission Grant 2015-2016

Equipping European Primary Care Health Professionals to Deal with
Genetics: Gen.Equip
Project leader: M.C. Cornel, H. Skirton
Investigator: I. Houwink
European commission Grant 2014-2017

Implementation of n=1 trial methodology in the assessment of health
care reimbursement
Project leaders: S.S. Weinreich, Jan Verschuuren
ZonMw 2014

Genomic Medicine
Project leader: A.C.J.W. Janssens
Investigators: J.G. Kers, F.K. Martens, E.C.M. Tonk;
ERC starting grant 2014-2016

The effects of periconceptional and prenatal folic acid
supplementation on congenital anomalies and preterm birth
Project leader: M.C. Cornel Investigator: F. Blom; Project leaders: M. van
Poppel, D. de Smit, ZonMw 2011-2013

Preconceptioneel dragerschaponderzoek Op Maat (POM): Verdere
ontwikkeling en evaluatie van genetisch dragerschaponderzoek in
specifieke risicogroepen
Investigator: K. Holtkamp, Project leader: L. Henneman, P. Lakeman, M.C.
van Maarle
ZonMw 2013-2016

Widening scope of prenatal screening by non-invasive prenatal
testing (NIPT). Consequences for counseling, informed decision
making and screening policy
Investigator: R. van Schendel, Project leaders: A.M.A. Lachmeijer, E.
Pajkrt, L. Henneman
ZonMw/ CSG 2013-2015

From rationing to rationality: an n-of-1 trial service for off-label
medicines for rare (neuromuscular) diseases
Investigator: C. Vrinten; Project leader S.S. Weinreich. Project advisor:
M.C. Cornel

Genes, brains and criminality in context: Assessment of knowledge
development in genomics and neurobiology and the transfer thereof
into psychiatric forensic practice
Investigator: C.G. van El, Project leader: T. Pieters
CSG 2012-2013

Teaching ourselves how to assess personalized health technologies
Project leader: S.S. Weinreich, Project advisors: M.C. Cornel, A. Pieters,
J.W. Twisk

Towards Best Practice Guidelines for Genetic Testing of Monogenetic
Subtypes of Diabetes Mellitus
Investigators: T. Rigter, S. Weinreich; Project leaders: L .Henneman, M.C.
Cornel
CSG 2011-2013

Best Practice Guidelines for Clinical Genetic Services
Investigators: T. Rigter, L. Henneman; Project leader M.C. Cornel
EuroGentest EU FP7, 2011-2013

A wealth of Data? Blurring boundaries and user-roles at the interface
of genetic, medical and personal information
Investigators: S.R. van Teeffelen, C. Douglas; Project leader C.G. van El,
M.C. Cornel
CSG 2010-2013

Evaluation of population newborn screening practices for rare
disorders in Member States of the European Union (WC2009-096)
Investigators: T. Rigter, S.S. Weinreich; Project leader M.C. Cornel

Communicating breast cancer risks: a genetic counsellor’s role in
improving patient understanding to increase informed decisionmaking
Project leaders: D.R.M. Timmermans, L. Henneman, F.H. Menko
KWF, 2004-2012

Newborn bloodspot screening for Pompe disease
Investigators: S.S. Weinreich, T. Rigter, C.G. van El; Project leader: A.J.
Reuser (ErasmusMC); Project advisor: M.C. Cornel
2009-2011

The governance of preventive genomics
Investigator: E. Vermeulen; Project leaders: M.C. Cornel;
Project advisors: C.G van El, L. Henneman
CSG 2009-2011

Reshaping criteria for screening in the age of genomics contemporary history and users perspective
Investigator: C.G. van El, L. Krijgsman; Project leaders: M.C. Cornel, T. Pieters
MAG-CMSB, CSG, 2004-2008

Implementing genome-wide non-invasive prenatal testing in a national prenatal screening program
Investigator: K.R.M. van der Meij
Promotors: prof. dr. L. Henneman & prof. dr. M.C. Cornel
Co-promotors: prof. dr. E.A. Sistermans & dr. M.M. Weiss

Dissertation 23 November 2022

The dynamics of reproductive genetic technologies: now and in the future. Perspectives of stakeholders.
Investigator: van Dijke I
Promotors: prof. dr. L. Henneman & prof. dr. M.C. Cornel
Co-promotors: Goddijn & Lakeman

Dissertation 1 July 2022

Polygenic risk prediction of common diseases
Investigator: dr. Forike Martens
Promotors: M.C. Cornel & A.C.J.W. Janssens
Co-promotor: E.C.M. Tonk

Dissertation 20 December 2021

Increased Nuchal translucency: from etiology to clinical consequences.
Investigator: Kyra Stuurman
Promotors: prof EJ Meijers-Heijboer & prof L Henneman
Co-promotor: dr M Elting

Dissertation 15 December 2021

Genetically isolated populations: Implications for genetic care
Investigator: Mathijssen I.B.
Promotor: prof. H. Meijers-Heijboer
Co-promotors: dr. L. Henneman & dr. M.C. van Maarle

Dissertation 4 April 2018

Implementing carrier screening in a changing landscape – Perspectives of public and professional stakeholder
Investigator: K.C.A. Holtkamp
Promotor: prof. M.C. Cornel
Co-promotors: dr. L .Henneman & P. Lakeman

Dissertation 19 October 2017

Implementing Non-Invasive Prenatal Testing (NIPT): Perspectives of patients and professionals.
Investigator: R.V. van Schendel
Promotor: prof. M.C. Cornel
Copromotors: dr. L. Henneman & prof. E. Pajkrt

Dissertation 7 December 7 2016

Implementing genetic tests. Infertility and newborn bloodspot screening.
Investigator: Marleen Jansen
Promotors: S.A. Morré & M.C. Cornel.
Copromotors: S. Ouburg & HJ van Kranen.

Dissertation 27 January 2016

Studying the effects of periconceptional folic acid supplementation. Travel the world and the seven seas.
Investigator: F. Blom
Promotor: prof. M.C. Cornel
Copromotor: dr. M.N.M. van Poppel

Dissertation 1 May 2015

Addressing reproductive risk in consanguineous couples
Investigator: M.E. Teeuw
Promotors: prof. M.C. Cornel & prof. P. Heutink
Copromotors; dr. L .Henneman & prof L.P. ten Kate

Dissertation 28 April 2015

Retinoblastoma: molecular genetics and clinical consequences
Investigator: C.J. Dommering
Promotors: H. Meijers-Heijboer & A.C. Moll
Co-promotor: L. Henneman

Dissertation 11 February 2015

Translating the dynamics of genetics into health care practice
Investigator: T. Rigter
Promotor: prof M.C. Cornel
Copromotors: dr. L. Henneman & S.S. Weinreich

Dissertation 24 October 2014

Training in genetics and genomics for primary health care
Investigator: E.J.F. Houwink
Promotors: M.C. Cornel & G.J. Dinant;
Copromotors: C.P.M. van der Vleuten & L. Henneman

Dissertation 20 December 2013

Susceptibility to type 2 diabetes: perceptions and family communication regarding inheritance and primary prevention
Investigator: S.C.M. van Esch
Project leaders: M.C. Cornel & F. Snoek

Dissertation 1 February 2013

Screening for Anaemia and Haemoglobinopathy Before and During Pregnancy: A question of ethnicity?
Investigator: S.M.J.P. Jans
Promotors: M.C. Cornel & A.L.M. Lagro-Janssen
Co-promotors: A. de Jonge & L. Henneman

Dissertation 14 November 2012

Family history information and common chronic disease prevention: Type 2 diabetes as an example
Investigator: M. Wijdenens
Project leaders: L. Henneman & D.R.M. Timmermans.

Dissertation 27 April 2012

Moral dilemmas of pregnant women who are offered prenatal screening for congenital defects
Investigator: E. Garcia
Project leader: D.R.M. Timmermans & E. van Leeuwen

Dissertation 23 February 2012

The Risky Self: how genetic risk information affects self-image and health behavior
Investigator: L. Claassen
Project leaders: D.R.M. Timmermans & L. Henneman & T.M. Marteau

Dissertation 1 June 2011

The new genomics: challenges for ethics
Investigator: J.E. Lunshof
Project leaders: M.C. Cornel & R. Chatwick, T. Pieters

Dissertation 1 December 2008

Risk perception and psychological well-being of pregnant women who are offered prenatal screening for congenital defects
Investigator: J.H. Kleinveld
Project leader: D.R.M. Timmermans

Dissertation 2 December 2008

Preconceptional screening for carriers of haemoglobinopathies and/or cystic fibrosis, dependent on ethnic background.
Feasibility of a combined offer in the Dutch Society
Investigator: P. Lakeman
Project leader: L.P. ten Kate & M.C. Cornel & L.Henneman

Dissertation 2 October 2008

Knowledge of genetics relevant for medical practice among general practitioners and medical specialists
Investigator: M.J.H. Baars
Project leaders: L.P. ten Kate, A. Scherpbier, L. Henneman

Dissertation 25 May 2007

Preconceptional cystic fibrosis carrier screening – opportunities for implementation
Investigator: F.A.M. Weijers-Poppelaars
Promotors: L.P. ten Kate & G. van der Wal
Co-promotor: L. Henneman

Dissertation 14 January 2004

Preconceptional cystic fibrosis carrier screening – desirability and feasibility in the Netherlands
Investigator: L. Henneman
Promotors: L.P. ten Kate & H.M. van der Ploeg

Dissertation 19 June 2002