For the past ten years the Loulou Foundation hosts an annual meeting where scientists and drug developers working on CDKL5 deficiency, together with representatives from patient organizations, meet to discuss the latest advances.
Here are the main news and take-home messages from the 2024 CDKL5 Forum that took place in October 28-29 in Boston
La décima edición del Foro CDKL5 tuvo lugar en Boston, los días 28 y 29 de octubre de 2024. El Foro es una reunión anual que organiza la Fundación Loulou y en la que científicos y miembros de la industria farmacéutica se reúnen con representantes de la comunidad de pacientes para repasar los últimos avances en el campo.
Este es un repaso para los grupos de pacientes de las principales novedades del Foro CDKL5 2024.
Patients with Dravet syndrome caused by missense mutations in SCN1A are candidates for the clinical trials with ASOs and gene therapies to increase SCN1A expression, and will be candidate for this therapies after approval.
These are my main learnings from the Syngap Conference 2023 celebrated in Orlando the day before the American Epilepsy Society meeting.
The American Epilepsy Society (AES) meeting is the largest epilepsy meeting of the year, and because it takes place every month of December it also serves as an annual review on the understanding and treatment of epilepsies. These are my top 5 insights from the American Epilepsy Society 2023 meeting.
Every other year the International League Against Epilepsy organises a major epilepsy medical congress in Europe called the European Congress on Epilepsy (ECE). This year I attended the main three days of the ECE addition in Vienna, looking at the field partly as a drug developer and partly as a patient advocate working on behalf of rare epilepsy patient communities. Here is the list of what I found the most interesting at the ECE 2018 meeting.
Should we talk about syndromes based on the gene that causes them or should we talk about them (and treat them) based on the clinical characteristics that they display? Earlier this month, the epilepsy community gathered in Barcelona for the 32nd International Epilepsy Congress and there was a debate between genetic and symptom-base syndrome classification. This debate goes beyond semantics, and has important regulatory and access implications.
February 28 is the Rare Disease Day, and the global theme this year is research.
People from all over the world will come together this month to advocate for more research on rare diseases, and to recognize the critical role that patient organizations play in research.
I am excited to join this year Rare Disease Day and announce the launch of my first eBook: #ImpatientRevolution, a guide for impatient patient organizations.
With 2016 numbers now available, the number of orphan drugs in development for neurological indications is looking quite positive. I have reviewed the numbers of orphan drug designations and approvals by FDA in 2016 to see how popular are neurological orphan drugs today and what the trend is for the near future.
The journal Nature just released one of the most anticipated breaking news of the last few years: CRISPR gene editing has been tested in a person for the first time. In my day-to-day work I interact with families that have a child with a genetic disease. I get one question a lot: how close are we to turn that discovery into a therapy for people with genetic diseases?
