Finding answers to rare skin diseases

Laura Valinotto, Centre for Research in Genodermatosis and Epidermolysis Bullosa (CEDIGEA) at the School of Medicine, University of Buenos Aires, is dedicated to evaluating, diagnosing, treating, educating, and caring for patients with genodermatosis (rare genetic skin disorders).

The work focuses on:

Research Activities: We are building a comprehensive database that includes clinical, epidemiological, and mutational profiles of genodermatoses in our population. Through research grants we've provided free diagnoses to low-income individuals. This has not only attracted patients seeking diagnosis but has also allowed us to compile databases covering a significant portion of the country. We've developed a cost-effective diagnostic algorithm and identified new connections between genetic variations and physical characteristics.

Health Education: We promote awareness and understanding of rare genetic skin disorders at community, institutional, and individual levels. CEDIGEA organizes annual meetings for health professionals, fostering a network for discussing challenging cases and sharing treatment experiences. The latest conference in 2022 drew over 2600 participants, featuring 50 national and 16 international speakers. Held virtually, it reaches remote locations and includes world-renowned experts, making valuable information accessible.

Collaboration Between Researchers and Dermatologists: CEDIGEA was established through collaboration between academic researchers and clinical dermatologists. Our national network of specialized dermatologists identifies patients who undergo remote consultations, and samples are sent to our research centre. Upon molecular diagnosis, our specialist group communicates guidelines to referring physicians for patient management. Simultaneously, diagnostic results contribute to a clinical and molecular database, enhancing our understanding of the molecular epidemiology of genodermatoses in our country and uncovering new connections between genes and physical traits. These efforts lead to early diagnoses, reducing the time patients spend seeking answers to their conditions.

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