Alexander Hoischen Ph.D.


General Information

Street / P.O. BoxGeert Grooteplein 10, 855
Zip code6525 GA
CountryThe Netherlands
Phone number(s)+31 (0)24 3619639
Fax+31 (0)24 3668752

More Information

I am fascinated by the application of latest genomics technologies to understand the genetic basis of developmental disorders. In my research I establish and apply latest genomics technologies for the identification and interpretation of genomic variation, with a particular focus on rare point mutations. We have recently shown the importance of (de novo) point mutations for rare syndromes and common sporadic disorders by exome sequencing. This has revolutionized the genetics of congenital malformations, intellectual disability, and clinically defined syndromes.

I am currently expanding the clinical spectrum to the most severe end by exploring the role of point mutations in pathologic pregnancies (i.e. spontaneous abortions, miscarriages, stillbirths). Furthermore our research will help to understand the origin of de novo point mutations and the phenotypic effects that can result from these. In addition I have a continuous interest in exploring new technologies for clinical/diagnostic utility

Projects Involved

Primary Immunodeficiencies - From genetic basis to therapeutic targets,
Single Cell Applications for Target Enrichment,
Developmental disease or cancer: the crucial role of timing and type of new mutations,
NOVEL - De NOvo genetic Variants in Embryonic development and early Lethality,

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