Reproductive genetics especially of neurogenetic disorders, Preimplantation Genetic Diagnosis
Prof. Christine E.M. de Die-Smulders, MD is working as a clinical geneticist in the University Hospital Maastricht. She is the coordinator of the national PGD activities and actively involved in research on reproductive genetics. She is the promotor of several PhD students.
Christine de Die-Smulders is a clinical geneticist since 1989. In the first years of her career she worked as a general clinical geneticist. Her thesis in 2000 concerned a neurogenetic topic: clinical and genetic aspects of myotonic dystrophy. Her interest gradually shifted to reproduction and genetics. She was involved in Preimplantation Genetic Diagnosis (PGD) since its start in the MUMC+ in 1995 and is now professor in PGD and responsible for the clinical part and coordination of the national activities of PGD.
Her current research activities involve reproductive genetics especially of neurogenetic disorders and evaluation of PGD. She was the chair of the Medical Ethical Committee of the azM and UM for eight years, in accordance with her interest in ethical and legal issues in medicine.
de Jong A, Dondorp WJ, Macville MV, de Die-Smulders CE, van Lith JM, de Wert GM. Microarrays as a diagnostic tool in prenatal screening strategies: ethical reflection. Hum Genet. 2013 Sep 28.
Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N, van Berkel C, Polder E, Tollard E, Darios F, Brice A, de Die-Smulders CE, Vles JS, Vanderver A, Uziel G, Yalcinkaya C, Frints SG, Kalscheuer VM, Klooster J, Kamermans M, Abbink TE, Wolf NI, Sedel F, van der Knaap MS. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68.
de Die-Smulders CE, de Wert GM, Liebaers I, Tibben A, Evers-Kiebooms G. Reproductive options for prospective parents in families with Huntington's disease: clinical, psychological and ethical reflections. Hum Reprod Update. 2013 May-Jun;19(3):304-15.
van Rij M, de Koning Gans P, Aalfs C, Elting M, Ippel P, Maat-Kievit J, Vermeer S, Verschuuren-Bemelmans C, van Belzen M, Belfroid R, Losekoot M, Geraedts J, Roos R, Tibben A, de Die-Smulders C, Bijlsma E. Prenatal testing for Huntington's disease in the Netherlands from 1998 to 2008. Clin Genet. 2013 Jan 25.
van Rij MC, de Die-Smulders CE, Bijlsma EK, de Wert GM, Geraedts JP, Roos RA, Tibben A. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands. Clin Genet. 2013 Feb;83(2):118-24.