- Rare syndromes
- Mental disorders
- Molecular causes of genetic diseases
- Preimplantation Genetic Diagnosis
Prof. H.G. Brunner, MD
PO Box 5800
6202 AZ Maastricht
T: (+31) (0)43 3871349
T: (+31) (0)24 3614017
Han Brunner pursues the scientific understanding of the connections between clinical and molecular features of rare diseases, including applications to patient care. He has pioneered the discovery of a large number of disease genes and the application of cutting-edge genomic technologies (genomic microarrays, exome sequencing, and whole genome sequencing) to discover the causes of genetic diseases. Much of this work focuses on neurodevelopmental conditions such as intellectual disability and abnormal behavior.
Han Brunner studied medicine at the University of Groningen 1975-1984. He trained as a clinical geneticist at Nijmegen University and was board certified in Clinical Genetics in 1988. In 1998 he was appointed full professor and head of department at the Radboud University Medical Center. As of January 2014 he has a joint appointment in Nijmegen at the department of Human Genetics in Nijmegen and in Maastricht at the department of Clinical Genetics.
Han Brunner was elected member of the Royal Netherlands Academy of Arts and Sciences in 2013 and of the Academia Europea in 2012. He is a Knight in the Order of the Dutch Lion since 2013. He is a co-winner of the King Faisal International Prize in Medicine 2016, with Joris Veltman. He is awarded the 2016 Carter medal of the British Clinical Genetics Society.
Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-580, 1993.
Vikkula M, Mariman ECM, Lui VCH, Zhidkova NI, Tiller GE, Goldring MB, van Beersum SEC, de Waal Malefijt MC, van den Hoogen FHJ, Ropers HH, Mayne R, Cheah KSE, Olsen BR, Warman ML, Brunner HG. Autosomal dominant and recessi¬ve osteochondrodysplasias associated with the Col11A2 locus. Cell 80:431-437, 1995.
Celli J, Duijf P, Hamel BCJ, Bamshad M, Kramer B, Smits APT, Newbury-Ecob R, Hennekam RC, van Buggenhout G, van Haeringen A, Woods CG, van Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG, van Bokhoven H. Heterozygous germline mutations in the P53 homolog P63 are the cause of EEC syndrome. Cell 99:143-153, 1999.
van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG. Mutation of the gene encoding the ROR2 receptor tyrosine kinase causes autosomal recessive Robinow syndrome. Nature Genetics 25:423-426, 2000.
van Bokhoven H, Celli J, van Reeuwijk J, Rinne T, Glaudemans B, van Beusekom B, Rieu P, Newbury-Ecob RA, Chiang C, Brunner HG. MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome. Nature Genetics 37:465-467, 2005.
Vissers LE, de Ligt J, Gilissen C, Janssen I, Steehouwer M, de Vries P, van Lier B, Arts P, Wieskamp N, del Rosario M, van Bon BW, Hoischen A, de Vries BB, Brunner HG, Veltman JA. A de novo paradigm for mental retardation. Nat Genet. 42:1109-1112, 2010.
Hoischen A, van Bon BW, Rodríguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. Nat Genet. 43:729-31, 2011.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, Del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability. N Engl J Med. 367:1921-1929, 2012.
Veltman JA Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet 13: 565-575, 2012.
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA. Genome sequencing identifies major causes of severe intellectual disability. Nature. 511:344-347, 2014.