Prof. Dr. Amparo Acker-Palmer
Biological and related sciences, Health, Cell Biology, Cellular and Molecular Neuroscience, Vascular Biology, Tumour Biology
Health
Medical genomics, Medical genetics, Human molecular genetics, Ophthalmic genetics, Developmental genetics
Medical genomics, Genomics of genetic eye diseases, Genetics of disorders of sex development, Transcription factors in developmental disease
InBev-Baillet Latour Prize for Clinical Research on Novel insights into the role of non-coding variation in genetic disease, 2012
FWO Senior Clinical Investigator (second term), 1802215N, Personalized functional genomics in Mendelian eye diseases, 2015 – 2019
Dutch, English, French, German, Latin
Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E. Isolated and syndromic retinal dystrophy caused by biallelic mutations in the RCBTB1 gene, implicated in ubiquitination. Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi:10.1016/j.ajhg.2016.06.017.
Baetens D, Stoop H, Peelman F, Todeschini AL, Rosseel T, Coppieters F, Veitia RA, Looijenga LH, De Baere E, Cools M. NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development. Genet Med. 2016 Aug 4. doi: 10.1038/gim.2016.118. PMID: 27490115.
Coppieters F, Todeschini AL, Fujimaki T, Baert A, De Bruyne M, Van Cauwenbergh C, Verdin H, Bauwens M, Ongenaert M, Kondo M, Meire F, Murakami A, Veitia RA, Leroy BP, De Baere E. Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. Hum Mutat. 2015 Dec;36(12):1188-96.
Bauwens M, De Zaeytijd J, Weisschuh N, Kohl S, Meire F, Dahan K, Depasse F, De Jaegere S, De Ravel T, De Rademaeker M, Loeys B, Coppieters F, Leroy BP, De Baere E. An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients. Hum Mutat. 2015 Jan;36(1):39-42.
Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E. Mitotic microhomology-mediated replication-based mechanisms underly non-recurrent pathogenic microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genetics 2013 Mar;9(3):e1003358.
D'haene B, Attanasio C, Beysen D, 15 authors, Dekker J, Antonarakis S, De Baere E. Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening. PLoS Genetics, 6, e1000522, 2009.
Coppieters F, Leroy BP, Beysen D, Hellemans J, De Bosscher K, Haegeman G, Robberecht K, Wuyts W, Coucke PJ, De Baere E. Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa. Am. J. Hum. Genet., 1, 147-57, 2007.
Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, Clayton-Smith J, Ilyina H, Brooks SS, Christin-Maitre S, Fellous M, Fryns JP, Kim JR, Lapunzina P, Lemyre E, Meire F, Messiaen LM, Oley C, Splitt M, Thomson J, Van de Peer Y, Veitia RA, De Paepe A, De Baere E. Deletions involving long-range conserved non-genic sequences (CNGs) upstream and downstream of FOXL2 as novel disease-causing mechanism in BPES. Am. J. Hum. Genet., 77(2):205-18 (2005).
De Baere E, Beysen D, Oley C, Lorenz B, Cocquet J, De Sutter P, Devriendt K, Dixon M, Fellous M, Fryns JP, Garza A, Jonsrud C, Koivisto PA, Krause A, Leroy BP, Meire F, Plomp A, Van Maldergem L, De Paepe A, Veitia R, Messiaen L. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet. 2003 Feb;72(2):478-87. PMID: 12529855.
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L. Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet. 2001 Jul 15;10(15):1591-600. PMID: 11468277.
2015 – 2019 Personalized functional genomics in Mendelian diseases: from DNA variants to clinical and bioethical implications. BOF15/GOA/011 (Ghent University)
2014 – 2019 HiSeq: high-throughput next-generation sequencer for ultrafast and cheap decoding of whole exomes, genomes, transcriptomes, epigenomes and viromes. HERCULES type 2 (Hercules foundation)
2015 – 2018 EYE-splice: role of cis-acting and transacting pre-mRNA splicing dynamics in the pathogenesis and treatment of inherited blindness. FWO – G0C6715N
2013 – 2017 NXT-DSD: next-generation genomics for the identification of new disease genes and mechanisms in 46,XX and 46,XY disorders of sex development. Bilateral Brazilian-Belgian FWO research project G0D6713N
2015 – 2019 Personalized functional genomics in Mendelian eye diseases. FWO (Senior Clinical Investigator – second term). FWO – 1802215N
2011 – 2014 CIS-CODE: disruption of the regulatory code in hereditary conditions. FWO 3G079711
2013 – 2017 Initial Training Network. FP7-PEOPLE-2012-ITN, 317472
2013 – 2018 BeMGI: Belgian Medical Genomics Initiative. Belspo IAP-VII P7/43
Member of the Research Council of Ghent University, since 2014
Member of FWO expert panel Med2 (Genetics, Functional Genome Research, Bio-informatics, Developmental Biology), since 2014
Member of the Belgian Advisory Committee on Bioethics, since 2015
Vice-president College of Genetics, since 2012
Associate Editor of Clinical Genetics, since 2015
Editorial Board Member of Nature Scientific Reports
Member of the Belgian Society of Human Genetics
Member of the European Society of Human Genetics
Member of the American Society of Human Genetics
Member of the American College of Medical Genetics
Member of the International Society for Eye Research (ISER)
Member of The Association for Research in Vision and Ophthalmology (ARVO)
Clinical Laboratory Geneticist in Molecular Genetics, European Society of Human Genetics.
National Institute for Health and Disability Insurance (RIZIV). Authorised physician for medical genetics.
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Biological and related sciences, Health, Cell Biology, Cellular and Molecular Neuroscience, Vascular Biology, Tumour Biology
Biological and related sciences, Health, Hematology, Internal Medicine; Special focus: hemostasis and thrombosis, laboratory diagnosis particularly in the field of hemostasis and thrombosis, myeloproliferative neoplasms and their bleeding/thrombotic complications
Health, Obesity, Diabetes, Immunology
Health, Public Health