SOPHiA GENETICS’ Post

Please join us tomorrow for the FEMMUNE webinar where we discuss regulatory considerations for entering the US market

June 21st is the International Awareness Day for SYNGAP1 Rare Disease! We want to share with you our joint international campaign for Syngap1 Awareness Day. From our international partners we have collected our wishes for our children and families. Join us in spreading the word and raising awareness about SYNGAP1, a rare genetic disorder that affects many lives around the world. Awareness is the first step towards progress, and together we can accelerate research, and provide the much-needed support for individuals and families affected by SYNGAP1. Watch this powerful video featuring international organization leaders sharing their heartfelt wishes for the SYNGAP1 community. Let’s amplify their voices and work towards a brighter future for everyone impacted by this rare disease. This is the first one of a series. This one is with Latin America, Germany, and Poland. Make a Wish4Syngap. Share this post and video to help us reach more people. Together, we can make a difference! #SYNGAP1Awareness #SGN #SupportSYNGAP1 #TogetherForACure #WISH4SYNGAP #SPLASH4SYNGAP

🌍Rare Disease Day 2024: A Unique Day for a Unique Cause 🌍 Once every 4 years, Rare Disease Day fittingly falls on the rarest date in our calendars, the 29th February. There are over 300 million people worldwide living with a rare disease, with 72% of all rare diseases being the result of genetics. As a biometric clinical research organisation (CRO), we feel honoured to work alongside a large range of companies in their rare disease studies, providing a deep understanding of the unique challenges of rare disease research, such as tackling the statistical challenges of small populations, slow recruitment rates, lack of controls due to ethical reasons and choice of suitable endpoints. Our mission aligns with the goals of Rare Disease Day - to bring hope and solutions to those facing these often-overlooked conditions. The global movement works towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Let's use this day to amplify the voices of those living with rare diseases and to strengthen our resolve in supporting clinical research and advocacy efforts. https://hubs.li/Q02mGjRp0 #RareDiseaseDay2024 #RareDiseaseDay #RareDiseaseAwareness #ClinicalResearch #DataScience #BiometricCRO

June 21st is the International Awareness Day for SYNGAP1 Rare Disease! We want to share with you our joint international campaign for Syngap1 Awareness Day. From our international partners we have collected our wishes for our children and families. Join us in spreading the word and raising awareness about SYNGAP1, a rare genetic disorder that affects many lives around the world. Awareness is the first step towards progress, and together we can accelerate research, and provide the much-needed support for individuals and families affected by SYNGAP1. Watch this powerful video featuring international organization leaders sharing their heartfelt wishes for the SYNGAP1 community. Let’s amplify their voices and work towards a brighter future for everyone impacted by this rare disease. This is the third video of a series. This one is with USA, Germany and Switzerland. Make a Wish4Syngap. Share this post and video to help us reach more people. Together, we can make a difference! #SYNGAP1Awareness #SGN #SupportSYNGAP1 #WISH4SYNGAP #SPLASH4SYNGAP

June 21st is the International Awareness Day for SYNGAP1 Rare Disease! We want to share with you our joint international campaign for Syngap1 Awareness Day. From our international partners we have collected our wishes for our children and families. Join us in spreading the word and raising awareness about SYNGAP1, a rare genetic disorder that affects many lives around the world. Awareness is the first step towards progress, and together we can accelerate research, and provide the much-needed support for individuals and families affected by SYNGAP1. Watch this powerful video featuring international organization leaders sharing their heartfelt wishes for the SYNGAP1 community. Let’s amplify their voices and work towards a brighter future for everyone impacted by this rare disease. This is the first one of a series. This one is with Australia, Spain, and Netherlands. Make a Wish4Syngap. Share this post and video to help us reach more people. Together, we can make a difference! #SYNGAP1Awareness #SGN #SupportSYNGAP1 #TogetherForACure #WISH4SYNGAP #SPLASH4SYNGAP

Listen and learn as experts discuss why #GastricCancer often goes undiagnosed until later stages, the lack of specific guidelines for screening and treatment in Asian populations and more in this @stanfordmedcast episode from Stanford CME. https://lnkd.in/gM9QbEuQ

You might be surprised to learn that rare is not really rare. Check out the excellent rare disease resources at NORD (National Organization for Rare Disorders) https://lnkd.in/e2nh5pd #rarediseaseday #rarediseases #rarediseaseawareness

How Rare is PLAN (PLA2G6-Associated Neurodegeneration)? 

 For years, it has been said that there were only 150 children worldwide living with INAD. Our recent collaboration with Genomenon, Inc and the Broad Institute of MIT and Harvard has resulted in a new publication unveiling groundbreaking insights from a comprehensive prevalence study on INAD/PLAN. This study, fueled by dedication and collaboration, sheds light on the prevalence rates that not only impact affected PLAN patients but may also guide future research strategies. Now we know: PLAN is an ultra-rare disease, with an estimated 5,200 cases globally, primarily affecting young children. A heartfelt thank you to everyone involved! Our collective efforts will contribute significantly to advancing the landscape of INAD/PLAN research! Read more at: https://lnkd.in/dZrKfEB9 #WorkingOnaMiracle

In 2023, UN Member States unanimously designated September 7th as World Duchenne Awareness Day. Each year, World Duchenne Awareness Day seeks to raise awareness and inspire action to improve the lives of individuals with Duchenne and Becker muscular dystrophy. Today, one in 5000 newborn boys is affected by Duchenne muscular dystrophy - amounting to 250,000 individuals worldwide. We encourage each of our friends to learn more about this rare disease and how to support this community. Where can I learn more about Duchenne and Becker Muscular Dystrophy and World Duchenne Awareness Day? https://lnkd.in/gf8Ku2A What can I do for World Duchenne Awareness Day? https://lnkd.in/eGZftiP5

Our core beliefs are what led us to build the Rare Disease Research Network. ➡️ Rare disease research is heavily underserved and underfunded and research has historically taken a top-down approach with little involvement of the people it is meant to be benefiting. ➡️ We believe that patients and supporters know best and can contribute their lived experience to research. ➡️We believe a collaborative approach between patients, their families, advocates and researchers will foster the best outcomes for all. ➡️ We aim to tackle these challenges by facilitating partnerships and patient centred research opportunities. #RareDisease #RareDiseaseResearch #RareDiseaseNetwork #RareDiseaseResearchNetwork