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A new diagnostic service for rare (neurologic) diseases in West-Hungary
Tompa Márton1,2, Urbán Péter1,3, Gálik Bence1,3
1University of Pécs, School of Medicine, Szentágothai Research Center, Genomics and Bioinformatics Core Facility (GenBio).
Background And Purpose:
Genetic services have not been evenly distributed in Hungary. Diagnostic services for rare diseases have particularly been scarce in the West end of the country. We aimed to fill this diagnostic gap.
Methods:
We have created a new mod- el involving the molecular medicine (MM) service as a tertiary patient referral center at the Markusovszky University Teaching Hospital (MUTH) in contract with the Ge- nomics and Bioinformatics Core Facility of the Szentágothai Research Center, University of Pécs, and the iBioScience company, which provide whole exome sequencing and Sanger sequencing.
Results:
We present our results of molecular genetic and genomic diagnostics for rare neurological diseases, and highlight a few cases where the identification of the caus- ative pathogenic or likely pathogenic variant resulted in direct benefit to the patient.
Conclusion:
Our multidisciplinary collab- oration operating in less than two years has filled a gap in genetic services in the West-Hungary region, and yielded shortcuts to diagnostics, led to targeted therapy and supported family planning in several cases with rare neurological diseases.
