Rosario assiste sua moglie, nata con malattia gravissima, e molto rara: l'encefalopatia epilettica da deficit di CDKL5. Non cammina, non vede, e non vive come gli altri. Chiama l'800 900 330, e con 9 euro al mese sostieni la fondazione Telethon. Fai nascere la speranza. Dona ora!

Brazilian Symposium hosted by Dravet and CDKL5 Associations to improve early diagnosis and provide adequate treatment. It is also a call for the pharma industry to include Latin America in trials and for the national pharma industry to develop these medications.

Se estima que unas 400 personas en España sufren el Síndrome de Deficiencia CDKL5 pero solo hay 40 diagnosticados, ¿nos ayudas a encontrar a los demás? ¡Si es así súmate al reto! Tu impulso es mi pulso  #ChocaEsos5AmigoCDKL5

#Epilepsy is one of the most common conditions affecting the brain however, there are rare epilepsies like #Dravet , #LGS , #PME , #CDKL5 , #Rett , #Doose , Infantile spasms, and MANY more. #NationalEpilepsyAwarenessMonth #Epilepsy Awareness #NEAM

Oggi acquistato uovo di Pasqua che sostiene “L’albero di Greta”, associazione che sostiene la ricerca per migliorare la qualità della vita delle persone affette da una patologia derivata da mutazioni in CDKL5 (una proteina)

se vi va, repostate 🧡

Our Founder Laura was thrilled to finally meet Dr Kyle Fink of UC Davis Fink Lab at the #CDKL5 Forum in London this week and is excited to meet more of our CASK champions in attendance! We share so much in common with #CDKL5 , this is a great forum to learn from this community!

Okay one more…he’s wearing Bray’s CDKL5 colors 🥹

Delighted to represent the RSZ-TNC #HumanNeuronCore and participate in such an engaging workshop on #iPSC technologies in #CDKL5 #research at the #CDKL5 Forum2023 #CDD #CDKL5 DeficiencyDisorder #CDKL5 Forum

Fantastic to catch up with our SAB members Dr Sam Amin and Andrea Cerase at the #CDKL5 forum this week. Dr Amin presented 4 posters at the forum and is passionate about using his knowledge of CDKL5 to benefit rare diseases like CASK - we are lucky to have these two on board!

Today is rare disease day. Callum has CDKL5. Hoping one day there will be a cure

It was a privilege to attend the #CDKL5 Forum this week and hear about the incredible developments in gene editing from Fink Lab and n-Lorem Foundation. We are inspired and hopeful for our future ability to treat and cure CASK disorders #CASKgene #genetherapy #CASKresearch #cureCASK

Today is #RareDiseaseDay ! DYKT more than 300 MILLION people live with a rare disease? Although #epilepsy is not rare, it is an umbrella term that contains many rare epilepsies like: #Dravet , #LGS , #SCN1A , Angelman syndrome, #CDKL5 , and many more. #EpilepsyAwareness

A great symposium for Asian CDKL5 deficiency families! #AutismAwareness

#WorldCDKL5Day 💚💜

Truly hope ppl start to make fewer assumptions, & even cut us slack every now & again.

Nothing good to say about #CDKL5 , but here's a pic of my WONDERFUL daughters (+ a squirrel) who make me so happy & proud 💞 (not the squirrel, although s/he is sweet! 🐿)

The Italian team rocked the stage at the 2nd CDKL5 Asia Meeting, thanks to the incredible support from the LouLou Foundation. 🙌🧬 Their dedication and collaboration are driving progress for CDKL5 families worldwide. 🌍💙 #CDKL5 #LouLouFoundation #HopeInResearch 🇮🇹🤝🔬

Here are the news about therapy development for #CDKL5 that we learnt at the #CDKL5 Forum 2023
- new findings about the disease
- CDD rats with epilepsy
- 8 trials in 8 years
- biomarkers
- gene therapies update
- two new therapeutic avenues
… and more
draccon.com/dracaena-repor…

That’s Bray and I featured on the CDKL5 - IFCR homepage. If you want to learn more about his condition here is the link to find out: cdkl5.com

Today is #CDKL5 Awareness Day! #CDKL5 deficiency is one of the most common genetic causes of #epilepsy . Learn more on the #ILAE Genetics Commission blog at epilepsygenetics.net.

I’m so excited to have our story out in Journal of Clinical Investigation establishing CDKL5 as an important “on switch” for the selective autophagy of viruses and antiviral immunity.
jci.org/articles/view/…

Tonight the Leaning Tower of Pisa is illuminated to raise awareness for rare diseases Reverse Rett International Rett Syndrome Foundation CDKL5 Alliance - Stronger Together CDKL5 - IFCR ITA CDKL5 IVLC - C.F. 92049350157 Dan Lavery