Rare Horizons
Gratis podcast

Rare Horizons

Podcast af Share4Rare - Fundación Weber

Prøv gratis
A podcast focused on rare disease research, created by Share4Rare, an initiative by the Sant Joan de Déu Research Foundation that promotes collaborative research and connects patients and families affected by rare diseases worldwide, and by the Weber Foundation. In each episode, we delve into various topics related to advances in rare disease research, featuring expert insights, patient stories, and family perspectives. Let’s explore the Rare Horizons! Hosted on Acast. See acast.com/privacy for more information. 

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Alle episoder

3 episoder
episode Biobanks: Research allies | Rare Horizons artwork
Biobanks: Research allies | Rare Horizons

One 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 [https://www.share4rare.org/registration/s4r] ---------------------------------------- Hosted on Acast. See acast.com/privacy [https://acast.com/privacy] for more information.

22. nov. 2024 - 35 min
episode Undiagnosed: navigating uncertainty | Rare Horizons artwork
Undiagnosed: navigating uncertainty | Rare Horizons

Not 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 [https://www.share4rare.org/registration/s4r] ---------------------------------------- Hosted on Acast. See acast.com/privacy [https://acast.com/privacy] for more information.

14. maj 2024 - 25 min
episode The path to diagnosis | Rare Horizons artwork
The path to diagnosis | Rare Horizons

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 [https://www.share4rare.org/registration/s4r] ---------------------------------------- Hosted on Acast. See acast.com/privacy [https://acast.com/privacy] for more information.

12. mar. 2024 - 19 min
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