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"Finding genes for complex diseases is a daunting task"

 

Prof. Dr. P. (Peter) Heutink
Head of the Department of Medical Genomics

 

Peter Heutink's research group discovered several genes for neurological disorders including the tau-gene responsible for Alzheimer's disease and frontal lobe dementia.In his own words “Our work does not stop after finding a gene, most of our group is involved in studying the function of genes we have identified in order to better understand the disease process. In addition, these relatively rare diseases often are important in more common forms of disease as well”. For example, it has become clear that the tau-gene also increases the risk for developing other neurodegenerative disorders, such as Parkinson's disease.

 

 

 

Publications:

DB, Phalan FC, Breedveld GJ, van Mil SE, Smith RS, Schimenti JC, Aguglia U, van der Knaap MS, Heutink P, John SW. Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science. 2005 May 20;308(5725):1167-71.

Aguglia U, Gambardella A, Breedveld GJ, Oliveri RL, Le Piane E, Messina D, Quattrone A, Heutink P. Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. Neurology . 2004 May 11;62(9):1613-5.

Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science . 2003 Jan 10;299(5604):256-9.

Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet . 2001 Jul;28(3):213-4.

Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J, Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA, Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F, Tannenberg T, Dodd PR, Hayward N, Kwok JB, Schofield PR, Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T, Heutink P. Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17. Nature . 1998 Jun 18;393(6686):702-5.