Research

Our diagnostic work is based on established scientific knowledge, which we expand through active research. To do so we cooperate with university research laboratories, breeders and breeding associations, and other institutions.

Ongoing projects

  1. Identification of the causative genetic variants for heritable phenotypes in domestic animals, including hereditary diseases and traits. 
  2. Research on the genetic diversity of dog breeds in partnership with breeding clubs and organizations.

Published research

1.    Prospective evaluation of a patented DNA test for canine hip dysplasia (CHD) DOI: 10.1371/journal.pone.0182093

2.    The KIT:c.376G>A variant in German and Swiss alpacas (Vicugna pacos) with different coat colors DOI: 10.1111/age.13231

3.    Identification of genomic regions associated with differences in fleece type in Huacaya and Suri alpacas (Vicugna pacos) DOI: 10.1111/age.13377

4.    Detection of viral antibodies in camel sera using magnetic particle spectroscopy DOI: 10.1007/s00253-023-12513-4

5.    A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM)  

6.    DOI: 10.1371/journal.pone.0108917

7.    Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers DOI: 10.1186/s13395-017-0131-0

8.    Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy DOI: 10.1007/s00335-016-9644-9

9. KRT5 in-frame deletion in a family of German Shepherd dogs with split paw pad disease resembling localized epidermolysis bullosa simplex in human patients doi.org/10.1111/age.13444 

10. Rudd Garces G, Farke D, Schmidt MJ, Letko A, Schirl K, Abitbol M, Leeb T, Lyons LA, Lühken G. PAX3 haploinsufficiency in Maine Coon cats with dominant blue eyes and hearing loss resembling the human Waardenburg syndrome. G3 (Bethesda). 2024 Jun 13:jkae131. doi: 10.1093/g3journal/jkae131. Epub ahead of print. PMID: 38869246.

11. Abitbol M, Dufaure de Citres C, Rudd Garces G, Lühken G, Lyons LA, Gache V. Different Founding Effects Underlie Dominant Blue Eyes (DBE) in the Domestic Cat. Animals. 2024; 14(13):1845. https://doi.org/10.3390/ani14131845

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