Support CHEO Ottawa's care for kids and life changing research like ours when you participate in the CHEO Dream of a Lifetime Lottery! 🤩

Calling on Canada’s genomics community: Take this 5-minute @AbacusData survey to help shape #CanadasGenomicsFuture .

survey.alchemer-ca.com/s3/50153846/Ge…

DYK? Care4Rare Canada is one of many institutions using PacBio’s #HiFisequencing in the research setting to identify #raredisease mechanisms, in the hopes of integration in clinical settings. pacb.com/blog/care4rare…

Our local spotlight talk by the fabulous Dr. Kym Boycott on the extensive detective work being undertaken to identify rare mutations associated with genetic disease. Helped by ‘matchmaking’ tools. Big data and global collaborations in the spotlight! #ICEM2022

Dr. Kym Boycott of Care4Rare Canada gives an incredible #ICEM2022 plenary on how her leadership is helping people with rare inherited disease. Goals are:

· Understand the mol. pathogenesis of rare diseases
· Facilitate timely diagnosis and optimal delivery

Today's #CitationSpotlight is the 2022 paper by Hannah Driver, Taila Hartley 🇺🇦, Orion Buske & others, ' #Genomics4RD : An integrated platform to share Canadian deep-phenotype and multiomic data for international #RareDisease gene discovery' Care4Rare Canada

bit.ly/3cd76Aj

A #FunFact for Friday! Did you know.....? #Genomics : orlo.uk/Jmdcd

We're excited to announce that our new website is live!🥳

care4rare.ca

Our bodies need proteins to function properly, but how are they made? Find out in this short animation: orlo.uk/7Tg1A

🌟New publication from our team at Care4Rare

🧬A novel intragenic #DPF2 deletion identified by #genomesequencing in an adult with clinical features of #CoffinSirissyndrome

onlinelibrary.wiley.com/doi/abs/10.100…

Interested in fostering #research by mitigating the high cost of access to many #data sets?

Our friends CANSSI Ontario have got your back with rolling #grants of up to $5K.

Applications are now accepted. Learn more 🔗👇

Bonus Prize for our Canadian 🇨🇦 supporters! Visit tinyurl.com/pe4vytbp and grab your raffle tickets today for a chance to win one roundtrip flight for two guests! Raffle ends 7/30 at midnight. Please review all details and rules at shinesyndrome.org

Want to learn more about how we conduct #genomicmatchmaking ? 🖥️🧬

Listen to Matt Osmond's podcast with Rare Disease Review on Spotify.

open.spotify.com/episode/3ohskX…

🌟New publication from our team at CHEO Ottawa; Dr. Heather Leduc-Pessah, Dr. David Dyment, Daniela Pohl, and Taila Hartley 🇺🇦

🧠An assessment of next generation #paneltesting in #epilepsy

cambridge.org/core/journals/…

We had the pleasure of meeting Oviya, Victoria, and Lina from Rare Disease Review Western at the CORD conference earlier this month.

They're a group of Western University students educating the public on RD discoveries through podcasts, events, and social media. 🦓

Keep up the great work! 😍

How does matchmaking help Care4Rare Canada discover new rare disease causing genes from around the world? HINT: it’s like a life changing game of Go Fish! Watch our new #DiscoveryMinute with Dr. Kym Boycott to learn more. #CHEO #CHEO Research #raredisease

For anyone who missed it, our CHEO Ottawa Telethon segment is now uploaded. 💜🐻

Watch our super smart Kid Reporter, Lincoln, interview Dr. Boycott and get a tour of our lab. 🧑‍🔬

Thanks to all who helped raise $11,818,771 for kids care and research!

vimeo.com/715344496

Tomorrow at 9:45am, PhenoTips CEO Orion Buske will be speaking about the role phenotypes play in achieving 'Diagnosis for All' at CORD' Rare Drug Strategy Conference & Cocktail Reception #Canada4Rare

Register to attend in Ottawa or virtually: bit.ly/3xqgrfP

Now at #CCMG2022 , all our session speakers are participating in a round table about polygenic risk scores and their ethical considerations