In a retrospective study, Eriksson et al. show that epilepsy surgery was able to halt and even reverse a decline in neuropsychological functioning in certain children by providing seizure freedom and the opportunity to discontinue antiseizure medication. tinyurl.com/2s3wu9u6

Great to see this exciting data on sickle cell disease gene therapy out in NEJM

Majority of patients appear functionally cured at this stage

New frontier

Access & long term toxicity remain unanswered

Congrats Ian Davis Michael Hofman Martin Stockler Sze Ting Lee

Sarah Webster, SYNGAP1 parent is sharing her story of raising Gracie in Outback Australia.

#GETA2024 #Syngap1 #raredisease #DEE

Sal Rico from Encoded Therapeutics reminds us how crucial natural history studies are to get gene therapies approved.
#GETA2024 #advancedtheapy

Photo of Eva Delaney the day she received her first dose of the SCN2A ASO in Sydney Australia.

Not a dry eye in the room!

#SCN2A #cureSCN2A #raredisease
Praxis Medicines

Well said #ProfAngelaMorgan . Plain English summaries of research papers are important so parents can understand what targeted therapies to try with their children. Without a diagnosis it is harder to engage in the most targeted speech therapy. GETA

Sleep problems are common in DEEs and can be part of the underlying disorder.

Dr Annie Chiu, Paediatric Epilepsy Fellow Austin Health Prof Ingrid Scheffer #DEE #GETA2024

'Rare epilepsies, as a group are not so rare, 1 in 591 children have a DEE' Prof Ingrid Scheffer
#GETA2024 #DEE #raredisease

A panel discussion to end the day.

How do we collectively get treatments for our children?

Prof Ingrid Scheffer Katherine Howell #profphillippearl #drsalrico

Thanks for inviting me to participate in honouring such giants in the field of paediatric epilepsy and wonderful people!

It’s the GETA 🧬🧠 conference 2024 - which not solely a hub for groundbreaking scientific presentations (re genetic epilepsies) but also a vital support network for families!

Featuring Prof Ingrid Scheffer -
Chair of Paediatric Neurology at University of Melbourne & Senior Principal Research…

A wonderful pod cast by Eliza Honybun and Dr Genevieve Rayner on such an important issue. Definitely worth a listen,

Our final session is a panel with Abby Douglas, Eddie Cliff of Peter Mac Cancer Centre & The Royal Melbourne Hospital, Katherine Howell of Murdoch Children's Research Institute (MCRI) and A/Prof Mary Ann Anderson of Peter Mac Cancer Centre & WEHI (Walter and Eliza Hall Institute).

#NDD #Epilepsy Clinicians & Researchers!

Help secure a 🌍 global #ICD11 for #SYNGAP1

Log into the WHO portal & support the proposal for #LD90point5

Full instructions here: syngap.fund/icd11

cc: Prof Ingrid Scheffer AGE Program - Adult Genetic Epilespy hans p schlecht SYNGAP Elternhilfe e.V. Syngap Research Fund Australia

Pleased to see that LACS is still going strong after 27 events since Prof Ingrid Scheffer & I started it in 2016 - a great forum for people to learn from clinician-scientists about the varied and exciting career of clinical research
Australian Academy of Health and Medical Sciences

Assume That I Can … I’m pledging as a healthcare worker to leave any negative assumptions at the clinic door. I’m so grateful to be part of ⁦GeneEQUAL and constantly challenging what I was taught at medical school. #Respect #Equity youtube.com/watch?v=Tf8j6s…

Just days left to secure your ticket to Life as a Clinician-Scientist VIC on 23 March. We're so pleased to share that Eddie Cliff of Peter Mac Cancer Centre will be joining Katherine Howell of Murdoch Children's Research Institute (MCRI) & A/Prof Mary Ann Anderson of WEHI (Walter and Eliza Hall Institute) in a panel session. bit.ly/VICLACS2024

Register now for an amazing day!

A career as a clinician-scientist leads to a lifetime of challenges, discovery and fulfilment – want to learn more? Hear from experts in paediatrics, neurology, immunology, public health and more at Life as a Clinician-Scientist Victoria on 23 March.
bit.ly/VICLACS2024