Sylvia M. Van Sloun Laboratory for Canine Genomic Analysis
Our Mission
To detect, characterize and screen novel inherited diseases in dog, improving animal welfare and breeding, and improve scientific knowledge on gene function, with a special focus on canine ocular and neurological inherited diseases.
About
The Sylvia M. Van Sloun Laboratory for Canine Genomic Analysis was founded to consolidate and expand a longstanding expertise established within the Department of Clinical Sciences & Advanced Medicine and School of Veterinary Medicine,The University of Pennsylvania and its longstanding commitment to investigating inherited canine diseases.
Our Research
Progress in the field of genetics/genomics in all mammalian species has resulted in a wealth of tools and resources that are critical to identifying genes and sequence changes that underly traits or diseases.
Scientists at the School of Veterinary Medicine of the University of Pennsylvania (PennVet) have been directly involved in these studies-initially as a collaborative effort and as internal effort by selected scientists.
Services
We provide our expertise to any veterinarian that wants to signal any suspected inherited disease in dogs. We put a a special focus on ocular and neurological diseases.
We are eager to work with veterinarians, breeders, owners that can send samples and medical records of any type of suspected inherited canine disease, with an emphasis on visual defects, or syndromes including in their manifestation visual symptoms, like retinal degeneration, cataracts, alterations of the eye morphology and overall visual impairments.
An eye examination form is available below.
Additionally, our laboratory provides testing for the following:
- Cirneco oculo-neurological syndrome (CONS)
- Labrador Ealy Onset retinal degeneration
Don’t hesitate to contact us for information about sample shipping and genetic testing fees.
Publications
Sudharsan R, Murgiano L, Ahuja A, Sato Y, Kwok J, Dolgova N, Savina S, Sedorovitz M, Dufour VL, Aguirre GD, Byrne LC, Beltran WA. Novel photoreceptor-specific promoters for gene therapy in mid- to late-stage retinal degeneration. Mol Ther. 2025 May 21:S1525-0016(25)00390-9. doi: 10.1016/j.ymthe.2025.05.020. Epub ahead of print. PMID: 40405464.
Murgiano L, Niggel JK, Akyürek EE, Sacchetto R, Aguirre GD. GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy. Sci Rep. 2025 Feb 19;15(1):6079. doi: 10.1038/s41598-025-89446-7. PMID: 39971978; PMCID: PMC11840026.
Penn Today: https://penntoday.upenn.edu/news/penn-vet-new-genetic-cause-blindness-dogs
Cook SR, Schwarz C, Guevar J, Assenmacher CA, Sheehy M, Fanzone N, Church ME, Murgiano L, Casal ML, Jagannathan V, Gutierrez-Quintana R, Lowrie M, Steffen F, Leeb T, Ekenstedt KJ. Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy. Mov Disord. 2024 Nov;39(11):2049-2057. doi: 10.1002/mds.29977. Epub 2024 Aug 23. Erratum in: Mov Disord. 2025 Feb;40(2):393. doi: 10.1002/mds.30079. PMID: 39177409.
Kwok JC, Sato Y, Niggel JK, Ozdogan E, Murgiano L, Miyadera K. Delayed-onset cord1 progressive retinal atrophy in English Springer Spaniels genetically affected with the RPGRIP1 variant. Vet Ophthalmol. 2024 Oct 20:10.1111/vop.13290. doi: 10.1111/vop.13290. Epub ahead of print. PMID: 39428496; PMCID: PMC12009339.
Murgiano L, Banjeree E,O’Connor C, Niggel JK, Miyadera K, Werner P, Aguirre GD, Casal ML, A naturally occurring canine model of syndromic congenital microphthalmia. G3 (Bethesda). 2024 Jun 5;14(6):jkae067. doi: 10.1093/g3journal/jkae067. PMID: 38682429.
Murgiano L, Niggel JK, Benedicenti L, Cortellari M, Bionda A, Crepaldi P, Liotta L, Aguirre GK, Beltran WA, Aguirre GD Frameshift Variant in AMPD2 in Cirneco dell’Etna Dogs with Retinopathy and Tremors. Genes (Basel). 2024 Feb 13;15(2):238. doi: 10.3390/genes15020238.
Murgiano, J Niggel, GD Aguirre, Rare Variant in a GTP-binding protein associated with a novel canine retinal degeneration Investigative Ophthalmology & Visual Science 64 (8), 4498-4498
Sigdel, J Niggel, GD Aguirre, L Murgiano Whole-genome mapping unravels the genetic etiology associated with complex phenotypes of collie eye anomaly. Investigative Ophthalmology & Visual Science 64 (8), 2779-2779
Natural disease history of a canine model of oligogenic RPGRIP1-cone-rod dystrophy establishes variable effects of previously and newly mapped modifier loci. Ripolles-Garcia A, Murgiano L, Ziolkowska N, Marinho FP, Roszak K, Iffrig S, Aguirre GD, Miyadera K.Hum Mol Genet. 2023 Jun 19;32(13):2139-2151. doi: 10.1093/hmg/ddad046.
Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle. Akyürek EE, Busato F, Murgiano L, Bianchini E, Carotti M, Sandonà D, Drögemüller C, Gentile A, Sacchetto R.Int J Mol Sci. 2022 Oct 15;23(20):12364. doi: 10.3390/ijms232012364.
Murgiano L, Becker D, Spector C, Carlin K, Santana E, Niggel JK, Jagannathan V, Leeb T, Pearce-Kelling S, Aguirre GD, Miyadera K. CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs. Sci Rep. 2020 Dec 3;10(1):21162. doi: 10.1038/s41598-020-77980-5.
Murgiano L, Becker D, Torjman D, Niggel JK, Milano A, Cullen C, Feng R, Wang F, Jagannathan V, Pearce-Kelling S, Katz ML, Leeb T, Aguirre GD. Complex Structural PPT1 Variant Associated with Non-syndromic Canine Retinal Degeneration, G3 (Bethesda), 2019; 9(2):425-437.
Appelbaum T, Murgiano L, Becker D, Santana E, Aguirre GD Candidate Genetic Modifiers for RPGR Retinal Degeneration. Invest Ophthalmol Vis Sci. 2020 Dec 1;61(14):20. doi: 10.1167/iovs.61.14.20.
Co-Director, Sylvia M. Van Sloun Laboratory
Co-Director, Sylvia M. Van Sloun Laboratory
Leo Murgiano, PhD
Co-Director, Sylvia M. Van Sloun Laboratory for Canine Genomic Analysis
Support Our Work
If you would like to support the work we do please utilize our giving link for the lab.
Find Us
University of Pennsylvania
School of Veterinary Medicine
3900 Delancey St. Ryan #2050
Philadelphia, PA 19104-6010
New genetic cause of blindness in dogs (link is external)
In collaboration with a foundation that breeds service dogs for the visually impaired, researchers at the School of Veterinary Medicine at the University of Pennsylvania and the University of Padova…