For some children with unexplained epilepsy, exome sequencing can help with precise diagnoses with direct clinical implications. ja.ma/3K5ZCNq

Good news for #Dravet! 👏 👏 Making progress for true disease-modifying therapy… -substantial #seizure reduction, particularly among the highest dose (70mg) group -non-seizure improvements in speech, behavior, cognition not seen with other therapies -well tolerated I’ll be

September 9 - Join us for our second annual Field Notes Flower fundraiser, A Family Field Day. We have some exciting vendors and food trucks joining us and several exciting door prizes to give away! #cureKCNC1 #torontoevents CP24 Breakfast Region of Durham blogTO Now Toronto

A simple and easy way to make a huge impact for those with a #RareDisease in Canada. Families are fighting hard enough day to day; help them get ahead by signing this important petition to see more support from government!

Stoke presents data from ongoing clinical studies of STK-001 for the treatment of Dravet syndrome at the 35th International Epilepsy Congress. Learn more here: investor.stoketherapeutics.com/news-releases/… International League Against Epilepsy #IEC2023 #ILAE

Why bother with finding genetic causes of cerebral palsy? In 1,841 individuals in published CP cohorts, 8% had a genetic diagnosis classified as actionable --> as prompting a change in clinical management based on knowledge related to the genetic etiology medrxiv.org/content/10.110…

It’s so cool to hit the same drugs again and again for diseases in the same pathway. It’s almost as if biology is real and conserved.

Dr Emil Kakkis (Ultragenyx) is calling for an Ultra-Orphan Act for the 1% of rare genetic diseases that affect fewer than 2,000 patients in the US. That tiny 1% actually covers over half of the 10,000+ known rare diseases. I stand with Emil 100%. The crux of the legislation

Two inspiring days at the #NorEpiNet2024 course (from genes to treatment) in Stockholm 🇸🇪 Genetic variant interpretation is not trivial❗ Multidisciplinary discussions between clinicians & geneticists are therefore crucial as we enter the era of #PrecisionMedicine❗ #Epilepsy

🎉 Fantastic news for Phelan-McDermid: Jaguar Gene Therapy announces the first clinical trial with a gene therapy for this syndrome, starting later this year in adult patients. Great news for the neurodevelopmental field and for the #SHANK3 families 🙌 jaguargenetherapy.com/press-release/…

Thankful Carly Weeks for sharing our story - we are only one of many.

Another nomination for QU Alumni Review in Best Feature Article: Professional! "Twist of Fate" by Carly Weeks is the remarkable story of genetic counsellor Stephanie Telesca. Great work on this story! #NMAB2B24 buff.ly/3xPzG5d

What is the Impact of having a Child with a developmental epileptic encephalopathy in a family?🔍 In this new paper of our group in collaboration with URJC we try to address this topic in: ➡️#Dravet ➡️#CDKL5 ➡️#PCDH19 ➡️#KCNQ2 ➡️#GNAO1 link.springer.com/article/10.100…

Ah thank you Ethan Perlstein bio/acc for acknowledging the strength parents have navigating rare disease and supporting us through our #cureodyssey

A fear most parents of children with disabilities have - adulthood. This isn’t a surprise and im glad mainstream media is picking up on what our families have known all along

Maternity leave.

Praise the Lord! A little less, "let's wait and see," "all kids are different," "they'll grow out of it." Exome or genome testing is recommended as first tier tests for global development delay or intellectual disability when no specific dx is suspected. Genetic testing is