Related Experiment Video
Updated: Sep 4, 2025

Multimodal Protocol for Assessing Metacognition and Self-Regulation in Adults with Learning Difficulties
Published on: September 27, 2020
[Education in rare diseases. Where are we now?]
Andrea Lenzi1, Stefania Basili2, Luisa Saiani3
1Endocrinologia, Dipartimento di Medicina Sperimentale, Policlinico Umberto I, Sapienza Università di Roma - Tavolo Tecnico per le Malattie Rare, Ministero della Salute.
Abstract:
Rare diseases represent a numerous (more than 30 million patients throughout Europe), diverse (more than 6000 disease ascertained), and complex group of genetic, metabolic, neurologic, congenital and other type of disorders presenting both in pediatric and adult age. Research, education and care are the mainstay of the national rare disease plans of the member states, including Italy. Early diagnosis and multidisciplinary care, particularly in severe or progressive disorder, are mandatory to treat disorders (when a specific treatment is available) and/or avoid life-threatening complications. According to the catchphrase "you can only diagnose what you know", it is intuitive how important is education and the "culture of suspect" in rare disease. In the last decade, a pre- and post-graduate academic planning on rare disease have been set up in Italy, with the aim to be comprehensive and up-to-date with the literature, traversal to both general physicians and all the specialties, longitudinal during all the study courses.
More Related Videos
06:41In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
09:55Bridging the Technology Divide in the COVID-19 Era: Using Virtual Outreach to Expose Middle and High School Students to Imaging Technology
Published on: September 28, 2022
Related Concept Videos
Learning Disabilities
Dyslexia
Dyslexia is a...
Specialized Care Centers and Settings-II
Rural health centers are specialized care facilities in remote locations with very few medical personnel. The primary care providers who run the centers are mostly Registered Nurse Practitioners. Here, emergency treatment is provided to critically ill or injured patients before they are transferred to the closest hospital. Fortunately, due to advancement in technology, many rural healthcare facilities and professionals have easy access to diagnostic and treatment...
Rheumatic Heart Disease IV: Nursing Management
Rheumatic Heart Disease III: Medical Management
EPS and iPS Cells in Disease Research
Sex-linked Disorders