Share
Rare Horizons
The path to diagnosis | Rare Horizons
Season 1, Ep. 1
•
Unlike more recurrent diseases, most rare diseases do not exhibit clearly defined clinical manifestations, making it difficult to obtain an accurate diagnosis. About 80% of these diseases are of genetic origin, underscoring the importance of identifying the specific gene or genes that may be mutated. In this episode, we discuss how technology and professional networks can help improve and speed up the diagnosis of rare diseases, and the efforts being made to ensure early and equal diagnosis for everyone.
If you have a rare disease or are caring for someone affected by one, consider getting registered in Share4Rare: https://www.share4rare.org/registration/s4r
More episodes
View all episodes
3. Biobanks: Research allies | Rare Horizons
35:24||Season 1, Ep. 3One of the major challenges in rare disease research is the limited availability of biological samples. Studies based on small sample sizes often yield less conclusive results than those conducted with larger datasets. Fortunately, we have invaluable allies to help overcome this issue: biobanks. Let's explore this topic in today's episode. If you have a rare disease or are a caregiver, consider getting registered in Share4Rare: https://www.share4rare.org/registration/s4r
2. Undiagnosed: navigating uncertainty | Rare Horizons
25:17||Season 1, Ep. 2Not having a diagnosis delays the possibility of receiving appropriate and effective treatments. It also causes uncertainty and fear, which negatively influences the mental health of patients and families. Luckily, new scientific disciplines, techniques, networks and tools are emerging that shorten the waiting times more and more. Let's explore this further in today's episode.If you have a rare disease or are a caregiver, consider getting registered in Share4Rare: https://www.share4rare.org/registration/s4r