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Do you suffer from a disease of unknown cause?
Do you suffer from a disease of unknown cause?
At CVGenome we design and execute personalized strategic plans to identify the genetic cause of your disease. We apply our knowledge and expertise to generate highly accurate DNA sequencing and gene expression data. This comprehensive genetic profile combined with in-depth analysis of the clinical features and current knowledge of the disease, leads to the successful discovery of its molecular cause. Following the identification of the disease-causing gene, our partnerships with the pharmaceutical industry can be used to develop personalized therapeutic approaches to cure your illness.
Identification of Mutations for Familial Disease
Identification of Mutations for Familial Disease
Our scientists have extensive expertise in the analysis and interpretation of genetic data for the identification of rare variants that are responsible for the onset of disease within families. This is highlighted by our publication record describing the discovery of mutations for Parkinson's disease, multiple sclerosis and essential tremor amongst many others.
At CVGenome we will design a personalized strategic plan to identify the genetic cause of your disease. We will apply our knowledge and experience to generate the most appropriate genetic data, by assessing the clinical features and current knowledge of the disease, and include all family members who increase the likelihood of success for this discovery program. Following the identification of a responsible mutation, we will pursue the development of targeted personalized therapeutics tailored to your specific genetic makeup.
Evaluation and Interpretation of Health Risks
Evaluation and Interpretation of Health Risks
A myriad of well-described genetic variants are known to increase the health risk for many common diseases such as Alzheimer's, cardiovascular disease and diabetes. Our team provides a clear and comprehensive interpretation of the individual's genetic personal health risks to develop an effective plan of action to minimize these risks.
Assessment of Clinical and Genetic Reports
Assessment of Clinical and Genetic Reports
Our experts will translate complex clinical and genetic reports into clear and easily accessible reports without specialized medical and genetic terminology. In addition, we provide summary reports for any disease of interest, with up-to-date genetic, clinical and therapeutic knowledge, to determine inheritance risks and suitability for therapeutic targeting.
Clients and Partners
Clients and Partners
Publications
Publications
Nuclear receptor NR1H3 in familial multiple sclerosis. Neuron 90, 948-54. Wang Z., Sadovnick A.D., Traboulsee A.L., Ross J.P., Bernales C.Q., Encarnacion M., Yee I.M., de Lemos M., Greenwood T., Lee J.D., Wright G., Ross C.J., Zhang S., Song W. & Vilariño-Güell C.
Identification of FUS p.R377W in essential tremor. Eur J Neurol 21, 361-3. Rajput, A., Rajput, A.H., Rajput, M.L., Encarnacion, M., Bernales, C.Q., Ross, J.P., Farrer, M.J. & Vilariño-Güell, C.
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. Mov Disord 28, 811-3. Appel-Cresswell, S., Vilariño-Güell, C., Encarnacion, M., Sherman, H., Yu, I., Shah, B., Weir, D., Thompson, C., Szu-Tu, C., Trinh, J., Aasly, J.O., Rajput, A., Rajput, A.H., Jon Stoessl, A. & Farrer, M.J.
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease. PLoS Genet 15, e1008180. Vilariño-Güell, C., Zimprich, A., Martinelli-Boneschi, F., Herculano, B., Wang, Z., Matesanz, F., Urcelay, E., Vandenbroeck, K., Leyva, L., Gris, D., Massaad, C., Quandt, J.A., Traboulsee, A.L., Encarnacion, M., Bernales, C.Q., Follett, J., Yee, I.M., Criscuoli, M.G., Deutschländer, A., Reinthaler, E.M., Zrzavy, T., Mascia, E., Zauli, A., Esposito, F., Alcina, A., Izquierdo, G., Espino-Paisán, L., Mena, J., Antigüedad, A., Urbaneja-Romero, P., Ortega-Pinazo, J., Song, W. & Sadovnick, A.D.
VPS35 mutations in Parkinson disease. Am J Hum Genet 89, 162-7. Vilariño-Güell, C., Wider, C., Ross, O.A., Dachsel, J.C., Kachergus, J.M., Lincoln, S.J., Soto-Ortolaza, A.I., Cobb, S.A., Wilhoite, G.J., Bacon, J.A., Behrouz, B., Melrose, H.L., Hentati, E., Puschmann, A., Evans, D.M., Conibear, E., Wasserman, W.W., Aasly, J.O., Burkhard, P.R., Djaldetti, R., Ghika, J., Hentati, F., Krygowska-Wajs, A., Lynch, T., Melamed, E., Rajput, A., Rajput, A.H., Solida, A., Wu, R.M., Uitti, R.J., Wszolek, Z.K., Vingerhoets, F. & Farrer, M.J.
MEIS1 p.R272H in familial restless legs syndrome. Neurology 73, 243-5. Vilariño-Güell, C., Chai, H., Keeling, B.H., Young, J.E., Rajput, A., Lynch, T., Aasly, J.O., Uitti, R.J., Wszolek, Z.K., Farrer, M.J. & Lin, S.C
DCTN1 mutations in Perry syndrome. Nat Genet 41, 163-5. Farrer, M.J., Hulihan, M.M., Kachergus, J.M., Dachsel, J.C., Stoessl, A.J., Grantier, L.L., Calne, S., Calne, D.B., Lechevalier, B., Chapon, F., Tsuboi, Y., Yamada, T., Gutmann, L., Elibol, B., Bhatia, K.P., Wider, C., Vilariño-Güell, C., Ross, O.A., Brown, L.A., Castanedes-Casey, M., Dickson, D.W. & Wszolek, Z.K.
A genetic risk factor for periodic limb movements in sleep. N Engl J Med 358, 425-7. Vilariño-Güell, C., Farrer, M.J. & Lin, S.C.
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