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Lombardia GENS: a collaborative registry for monogenic diseases associated with stroke

Anna Bersano1, Pierluigi Baron, Silvia Lanfranconi

  • 1Maggiore Policlinico Hospital, IRCCS, University of Milan, Italy. anna.bersano@gmail.com

Functional Neurology
|November 20, 2012
PubMed

Insights

The Lombardia GENS project established a network to diagnose six monogenic stroke-associated diseases in Lombardy, Italy. This initiative aims to collect data from over 200 patients to understand disease burden and improve characterization.

Area of Science:

  • Neurology
  • Genetics
  • Public Health

Background:

  • Monogenic diseases are increasingly recognized as a cause of stroke.
  • Establishing a dedicated network is crucial for accurate diagnosis and research.
  • Lombardy, Italy, offers a suitable environment with existing infrastructure for such a study.

Purpose of the Study:

  • To create a regional network for diagnosing six specific monogenic stroke-associated diseases.
  • To collect comprehensive data on patients with suspected monogenic stroke conditions.
  • To evaluate the regional burden and enhance the phenotype characterization of these diseases.

Main Methods:

  • Formation of a network linking 36 stroke centers with 7 high-technology laboratories.
  • Inclusion of all stroke/transient ischemic attack (TIA) patients meeting clinical criteria for monogenic diseases.
  • Standardized collection of demographic, clinical, family data, and diagnostic criteria.

Main Results:

  • The Lombardia GENS project has successfully established a regional diagnostic network.
  • The study is actively enrolling stroke/TIA patients suspected of monogenic conditions.
  • Anticipated collection of datasets and DNA samples from over 200 patients.

Conclusions:

  • The established network facilitates the diagnosis of monogenic stroke-associated diseases.
  • The project is expected to provide valuable insights into the regional prevalence and characteristics of these conditions.
  • This initiative will improve understanding and management of monogenic stroke.

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