Day 1 :
Keynote Forum
Vesna Aleksovska
International Gaucher Alliance, Macedonia
Keynote: Humanitarian aid in the frames of International Gaucher Alliance Vesna Aleksovska
Time : 09:00-10:00
Biography:
Vesna Aleksovska has founded the Association of citizens for rare diseases “LIFE WITH CHALLENGES”-Bitola in 2009. She is a Gaucher patient and patient advocate for rare disease patient in R. Macedonia. She is also a co-founder and former President of the National Alliance for Rare Diseases of R. Macedonia from 2014. She is now in the Board of NARDM and also in the Board of the Alliance of Patient Organizations of Macedonia. In 2013, she became a Member of the DITA (Drug Information, Transparency and Access) Task Force EURORDIS (European Organization for Rare Diseases) and a Vice Chair and Director in the Board of Directors of the International Gaucher Alliance since 2014. She is also a EUPATI (European Patients Academy on Therapeutic Innovation) Fellow, Trainer and EUPATI Ambassador for Macedonia.
Abstract:
The vision of IGA is-A world where all Gaucher patients have access to the treatment and care they need and there is a possibility of a cure. IGA has the mission to be the global voice for Gaucher patients and their families; to empower its members to advocate on behalf of Gaucher patients to ensure that the Gaucher research agenda is focused on patients’ unmet needs to take collective action to address challenges Gaucher patients worldwide face in accessing early diagnosis and optimal treatment and care. In the field of humanitarian aid IGA has achieved a lot with the following activities: Contact to affected patients and families; Working with the Pharma Companies e.g. Shire’s Global Steering Group, Pfizer, Genzyme; Building infrastructure i.e. Jordan; Early diagnosis working with the industry; Cooperation with physicians and scientists; Influence on EWGGD and research.
Keynote Forum
Shmuel Prints
NDC Medicine
Israel
Keynote: The final battle: Wisdom of the crowd against medical mysteries
Time : 10:00-10:45
Biography:
Shmuel Prints is an Internal Medicine and Public Health Specialist with over 30 years of experience in Russia and Israel. His greatest passion is diagnosing rare diseases and medical mysteries. Five years ago, he has realized that the diagnostic delay of rare diseases has a systematic reason and offered a web-based discussion as a solution. Since then, he developed the idea into a practical tool and founded NDC Medicine, a digital-health startup for diagnosing medical mysteries, now in the proof of concept stage.
Abstract:
An extraordinary diagnostic delay is a key problem in the rare diseases field. According to public health studies, the greatest loss of time occurs in primary and secondary outpatient care. The inability of most physicians to recognize rare diseases in their daily practice is commonly explained by a low suspicion. This notion misses a main culprit in the clinical diagnostic workup that prevails in modern medicine the classification algorithm. It perfectly recognizes frequent diseases, and at the same time inevitably neglects rare ones. From this point of view, crowdsourcing a diagnosis for mysterious patients’ cases has an undoubted methodological advantage. By simultaneously introducing a patient with an unusual combination of symptoms to a wide range of doctors, we increase the likelihood that among them there is someone who has seen a similar clinical picture before. Educational medical websites, that present already-solved rare cases as a riddle for training doctors, shows that the correct diagnosis arises among some physicians in a short matter of time. Recent researches proved that it takes the same accuracy to solve patients with an unclear diagnosis in medical forums and other discussion platforms for doctors. Our web-based platform, NDC Medicine, offers a unique solution for fast and accurate diagnosis of medical mysteries by harnessing the power or crowdsourcing and AI. It solves three main problems of current crowd sourcing platforms for undiagnosed patients: a) Quality case presentation. b) Gathering all possible diagnoses. c) Shortlisting the best ones using Artificial Intelligence. Ending the diagnostic odyssey for millions of patients worldwide has never been so close.