Publications by authors named "J Zschocke"

In spring 2022, the inaugural cohort of Genetic and Genomic Counseling MSc students graduated from the Medical University of Innsbruck, representing a significant milestone for the establishment of the genetic counselor (GC) profession in the German-speaking countries. A pivotal component of their education was a 15-week clinical training period. The placement experiences of both students and supervisors offered valuable insights into the attitudes of medical geneticists toward the profession.

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Unlabelled: mGEC is associated with poor overall survival (OS) of approximately 4-10 months. CtDNA is emerging as a promising prognostic biomarker with high potential for early relapse detection. However, until now, there was little knowledge on serial ctDNA detection and its impact on early treatment evaluation and prognosis in mGEC.

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With increased application of Next Generation Sequencing (NGS) in the diagnosis of monogenic Ehlers-Danlos syndromes, there is an increased probability to identify variants of unknown significance. Additionally, in some cases no genetic alteration may be identified whilst there is a strong clinical suspicion on a monogenic EDS type. The diagnostic value of non-genetic investigations, which prior to NGS were quite commonly used to support the clinical diagnosis of monogenic EDS types, is explored.

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Article Synopsis
  • The Ehlers-Danlos syndromes (EDS) are a group of genetically diverse disorders marked by varying levels of joint hypermobility, skin hyperextensibility, and connective tissue fragility, with 13 recognized types based on clinical features.
  • Twelve of these types are linked to specific genetic mutations in 21 confirmed genes, but hypermobile EDS (hEDS) does not have a clear genetic cause and can't be diagnosed through genetic testing.
  • The text also discusses the clinical features and molecular bases of the monogenic types, the diagnostic challenges faced, and advises when genetic testing is appropriate.
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