Hans-Hilger Ropers studied medicine in Freiburg and Munich. From 1984 to 1997, he headed the Institute for Human Genetics at the University of Nijmegen, The Netherlands, and in 1994, he became Director at the Max Planck Institute for Molecular Genetics (MPIMG) and Professor for Human Genetics at the Free University in Berlin, Germany. From 2008 and 2014, he also served as Secretary of the Biomedical Class of the (former Prussian) Berlin-Brandenburg Academy of Science (BBAW). Since 2014 he is Director emeritus (active) at the MPIMG as well as Clinical Geneticist and Senior Adviser at the Institute of Human Genetics, University of Mainz, Germany.
As MD and first-generation Board-Certified Clinical Geneticist, Hans-Hilger Ropers has a long-standing interest in the molecular elucidation, diagnosis, prevention and treatment of genetic disorders. In the 1980ies, he was an active member of the Gene Mapping Community, acting as Chromosome Chair and Co-Chair at all Human Genome Mapping Conferences between 1985 and 1993, and from 2003 to 2011, he served as Council and Program Committee member of the Human Genome Organization (HUGO).
In the early 1990ies, he and his coworkers were among the first to employ positional cloning strategies for systematically identifying the molecular causes of Mendelian disorders, with a focus on X-linked blindness, deafness and mental retardation. As members of the European X-linked Mental Retardation Consortium (*1995), they made seminal contributions to the elucidation and diagnosis of X-linked intellectual disability (XLID). Together with N. Tommerup (Copenhagen), they were also involved in the first systematic effort to characterize disease-associated balanced chromosome rearrangements; moreover, they were among the first to describe copy number variants in complex disorders other than ID. In 2004, when XLID turned out to be less common than previously thought, Hans-Hilger Ropers and his partner H. Najmabadi (Tehran) set out to study autosomal recessive forms of ID (ARID) in a systematic manner. By pioneering the use of SNP arrays for large-scale autozygosity mapping in consanguineous ARID families, they demonstrated that ARID is extremely heterogeneous. Another milestone was the early adoption of Next Generation Sequencing (NGS) techniques in 2007, which added a new dimension to the molecular elucidation of X-linked and autosomal ID.
Hans-Hilger Ropers was an early critic of the world-wide search for common genetic markers of complex diseases, which he characterized as futile and ‘a waste of time’ (FAZ, 2001). He was among the first to point out that for the vast majority of complex diseases, common genetic markers are unlikely to exist (Am. J. Hum. Genet. 2007), and he argued that genome research should focus on monogenic diseases instead (Dialogues in Clin. Neurosci. 2010; Max-Planck-Jahrbuch 2011). Later on, he repeatedly urged the German government to emulate the Genomics England project that had started in 2012 (BBAW 2013) and to implement next generation sequencing techniques into genetic health care (Ropers, Konrad-Adenauer-Stiftung (KAS) 2018; Arnold et al, KAS 2019).
Hans-Hilger Ropers is member of the Royal Dutch Academy of Sciences (since 2002) and the BBAW (since 2003), Honorary Member of the German Society of Human Genetics and recipient of its Medal of Honor (2009). In 2014 he received the Scientific Award of the European Organization for Rare Diseases (EURORDIS), and in 2015 he was awarded an honorary PhD by the University of Social Welfare and Rehabilitation, Tehran.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM.
Tarpey PS, Smith R, Pleasance E, Whibley A, Edkins S, Hardy C, O'Meara S, Latimer C, Dicks E, Menzies A, Stephens P, Blow M, Greenman C, Xue Y, Tyler-Smith C, Thompson D, Gray K, Andrews J, Barthorpe S, Buck G, Cole J, Dunmore R, Jones D, Maddison M, Mironenko T, Turner R, Turrell K, Varian J, West S, Widaa S, Wray P, Teague J, Butler A, Jenkinson A, Jia M, Richardson D, Shepherd R, Wooster R, Tejada MI, Martinez F, Carvill G, Goliath R, de Brouwer AP, van Bokhoven H, Van Esch H, Chelly J, Raynaud M, Ropers HH, Abidi FE, Srivastava AK, Cox J, Luo Y, Mallya U, Moon J, Parnau J, Mohammed S, Tolmie JL, Shoubridge C, Corbett M, Gardner A, Haan E, Rujirabanjerd S, Shaw M, Vandeleur L, Fullston T, Easton DF, Boyle J, Partington M, Hackett A, Field M, Skinner C, Stevenson RE, Bobrow M, Turner G, Schwartz CE, Gecz J, Raymond FL, Futreal PA, Stratton MR.
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Chen W, Kalscheuer V, Tzschach A, Menzel C, Ullmann R, Schulz MH, Erdogan F, Li N, Kijas Z, Arkesteijn G, Pajares IL, Goetz-Sothmann M, Heinrich U, Rost I, Dufke A, Grasshoff U, Glaeser B, Vingron M, Ropers HH.
Mapping translocation breakpoints by next-generation sequencing.
Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrié A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J.
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
Carrié A, Jun L, Bienvenu T, Vinet MC, McDonell N, Couvert P, Zemni R, Cardona A, Van Buggenhout G, Frints S, Hamel B, Moraine C, Ropers HH, Strom T, Howell GR, Whittaker A, Ross MT, Kahn A, Fryns JP, Beldjord C, Marynen P, Chelly J.
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.