André Reis

André Reis (born July 25, 1960 in São Paulo ) is a German doctor. He is director of the Human Genetic Institute at the University of Erlangen and a member of the Academy of Sciences and Literature in Mainz .

Career

André Reis studied medicine from 1979 to 1986 at the Georg-August University in Göttingen and the Medical University of Lübeck . He received his doctorate in 1986 under Eberhard Schwinger at the Institute for Human Genetics in Lübeck with a thesis on the fragile X chromosome in children with autistic syndrome . In the two following years he worked for Jörg Schmidtke at the Institute for Human Genetics at the University of Göttingen and in 1989 became a university assistant at the Institute for Human Genetics at the Charité , Humboldt University in Berlin , where he stayed until 1998. In 1995 he founded the “Microsatellite Center / Gene Mapping Center” at the Max Delbrück Center for Molecular Medicine (MDC) in Berlin-Buch , where he was project manager. In addition, he has been a specialist in human genetics since 1995 and completed his habilitation in human genetics at the Charité. In 1998, Reis was appointed university professor (C3) for medical genetics and gene mapping at the Charité and a working group leader at the MDC. Since 2000 he has been full professor of human genetics and director of the institute for human genetics at the Friedrich-Alexander-Universität Erlangen-Nürnberg , since 2007 spokesman for the local interdisciplinary center for clinical research at the university hospital and also since 2007 senator of the university. Reis has been a corresponding member of the Academy of Sciences and Literature Mainz since 2006, and a member of the German Academy of Sciences Leopoldina since 2007 . From 2008 to 2012 Reis was chairman of the German Society for Human Genetics .

Current research focus

The main focus of André Reis' working group at the Erlangen Institute for Human Genetics is currently working on the genetics of catatonic schizophrenia, psoriasis and various eye diseases.

Scientific achievements

André Reis has done research in different areas of medicine. His working group at the Charité was involved in the generation of mouse mutants with dominant mutations as part of the German Human Genome Project . The more than 180 mouse models produced in this way have been available to scientists for research purposes for several years.

Together with scientists from the University of Wisconsin – Madison , risk factors for heart attacks were examined. The genetically determined risk factors were examined in over 500 families and a new susceptility locus was identified on chromosome 14 .

At the Max Delbrück Center in Berlin, Reis led a study on the genetic risk factors of atopic dermatitis . 200 families were examined in a genome-wide linkage analysis. A region on chromosome 3 was identified that can be associated with the risk of disease. In collaboration with colleagues from Leicester, genetic risk factors for another skin disease, psoriasis, were investigated. Genetic variants in the beta-defensin gene were examined in around 500 people from Germany and Denmark.

Another focus of André Reis' work is genetically determined neurological disorders. In collaboration with colleagues from Austria, an animal model for neurodegenerative diseases involving the cerebellum was developed. The model is based on the evidence that a loss-of-function mutation in the Scyl1 gene in mice leads to degenerative cerebellar disease (mdf syndrome in mice).

So-called orphan diseases have been the focus of attention at André Reis in recent years. In a study from 2006, a germline mutation in the K-Ras gene was detected in patients with Noonan's syndrome . This study was able to show that the diverse and different disorders associated with this disease (short stature, facial dysmorphism and heart defects) are due, among other things, to malfunctioning of a GAP protein . In the case of the rare Johanson-Blizzard syndrome , which is associated with underhandedness and pancreatic insufficiency, Andre Reis' group was able to prove that it is probably caused by the defective ubiquitin ligase UBR1 . The proof that a mutation in the pericentrin gene causes the very rare microcephalic osteodysplastic short stature type II (MOPD II) was published by Reis in the journal Science. A biallelic loss of the pericentrin gene was detected, which leads to faulty segregation of chromosomes.

Web links

• Literature by and about André Reis in the catalog of the German National Library
• Website of the Human Genetics Institute of the University of Erlangen

Individual evidence

1. ↑ Report 50 years of the Human Genetics Institute in Erlangen from October 15, 2015, accessed on January 18, 2016
2. ↑ member entry of André Reis at the Academy of Sciences and Literature Mainz , accessed on 11.06.17
3. ↑ Member entry by Prof. Dr. André Reis (with picture) at the German Academy of Sciences Leopoldina , accessed on July 19, 2016.
4. ↑ Archive link ( Memento of the original from February 15, 2015 in the Internet Archive ) Info: The archive link was inserted automatically and has not yet been checked. Please check the original and archive link according to the instructions and then remove this notice. Current focus of work  
5. ↑ Hrabé de Angelis MH et al .: Genome-wide, large-scale production of mutant mice by ENU mutagenesis . In: Nature Genetics . 2000; 25 (4): 444-7. PMID 10932192
6. ↑ Broeckel U et al .: A comprehensive linkage analysis for myocardial infarction and its related risk factors. In: Nature Genetics . 2002; 30 (2): 210-4. PMID 11818963
7. ↑ Lee YA et al .: A major susceptibility locus for atopic dermatitis maps to chromosome 3q21 . In: Nature Genetics . 2000; 26 (4): 470-3. PMID 11101848
8. ↑ Hollox EJ et al .: Psoriasis is associated with increased beta-defensin genomic copy number . In: Nature Genetics . 2008; 40 (1): 23-5. PMID 18059266
9. ↑ Schmidt WM et al .: Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration . In: EMBO Rep . 2007; 8 (7): 691-7. PMID 17571074
10. ↑ Schubbert S et al: Germline KRAS mutations cause Noonan syndrome. Nat Genet. 2006 Mar; 38 (3): 331-6. PMID 16474405
11. ↑ Zenker M et al .: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) . In: Nature Genetics . 2005; 37 (12): 1345-50. PMID 16311597
12. ^ Rauch A et al .: Mutations in the pericentrin (PCNT) gene cause primordial dwarfism . In: Science . 2008; 319 (5864): 816-9. PMID 18174396