Amazing work by @hela_azaiez and @milesklimara exposes the important contribution of de novo variants to #genetic#HearingLoss.
"DNVs are a common cause of HL, accounting for at least ~1% of all genetic diagnoses, ~2% of ADNSHL, and ~6% of ADSHL."
https://t.co/jHRRHZrFSP
Teaching at Toronto Complement Meeting, a conference focused on diseases of the complement pathway. Excellent program, so much to learn. With my close friends Santiago de Cordoba and Richard Smith. #TCC2020@SickKidsNews@sickkids@RJHS1953
Dr. Nester @uihealthcare provided resources for finding available #clinicaltrials for #C3G, explained how they are designed differently & and how they target different parts of the #complement
Great insights into the pathophysiology of #Drusen in #C3G and the necessity to understand whether certain interventions can prevent or slow progression from Dr.Tom Oetting @uiowaeye@uihealthcare
Richard Smith explaining complement activity, regulation & dysregulation and how it leads to #C3G. So much has been achieved in understanding its mechanism & awesome scientists across the world working hard to find #treatments
Doubt that the stars are fire
Doubt that the sun doth move
Doubt truth to be liar
But never doubt I love
Shakespeare
Powerful talk from Lynne telling their story of pain, courage, perseverance, dedication, hope and love