Asociatia Invingem Sindromul Bourneville

01/09/2026

Uma descoberta que pode ajudar no tratamento da epilepsia refratária.

Investigadores da Mayo Clinic descobriram que zonas do cérebro separadas por apenas 3 milímetros estão ligadas a redes cerebrais diferentes — um passo importante para tornar a estimulação cerebral profunda mais precisa e personalizada em casos de epilepsia farmacorresistente, comum na Esclerose Tuberosa.

Estudo publicado na Journal of Neuroscience. Link na bio.

12/08/2026

Bolile rare reprezintă una dintre cele mai complexe provocări ale sistemelor de sănătate moderne, necesitând o abordare integrată, multidisciplinară și

29/07/2026

21/07/2026

Something big is here. 🎉 Global Genes is proud to launch the Rare Disease Curriculum — a free, seven-module online learning program for patients, caregivers, advocates, and healthcare professionals. Built to be accessible, culturally inclusive, and self-paced, this curriculum is for everyone touched by rare disease.💙

💻 Access Rare Disease Curriculum: https://globalgenes.org/curriculum/

21/07/2026

🎙️ The Cerebra Network is excited to announce that Research to Reality in Rare Syndromes is coming later this month.

This new podcast series will bring together researchers, professionals and parent carers to discuss the challenges, evidence, and practical solutions that can make a real difference to families' lives.

Stay tuned for more updates and our first episode!

21/07/2026

TSC can affect the brain in a few different ways.

Cortical tubers are ‘disorganised’ areas of the brain that contain abnormal cells. Some people living with TSC might have one or multiple tubers, whereas others could have none. Cortical Tubers are thought to be one of the reasons why people living with TSC develop epilepsy. No new tubers grow following birth, with tubers developing during pregnancy.

SENs are small accumulations of cells (around 1cm in diameter) located in spaces around the brain that contain fluid. As a SEN grows, it might become large enough to block the normal flow of fluid in the brain, causing it to build-up. Fluid build-up on the brain can be serious and surgery could be necessary, often to implant a shunt – a thin tube connected to the brain that drains excess fluid.

SEGAs are non-cancerous brain tumours that around 15 out of every 100 people living with TSC will develop. It is possible for SEGAs to cause no issues, but SEGAs may also stop the flow of fluid in the brain, causing it to build-up (see SEN above). New or growing SEGAs can also lead to neurological problems or TSC-associated neuropsychiatric disorders (TAND), such as autism or depression.

Please share this post far and wide so that your friends, family and colleagues can learn more about TSC and how it affects those living with the condition. Together, we can push for TSC to be on the radar of more people, which will help increase research and support for those with the condition.

01/07/2026

TSC-Associated Neuropsychiatric Disorders (TAND) can have a significant impact on the lives of people living with Tuberous Sclerosis Complex.

Nine out of every 10 people living with Tuberous Sclerosis Complex (TSC) develop TSC-associated neuropsychiatric disorders (TAND) at some point in their lives.

TAND disorders can have a serious impact on family life, with the number one request from individuals and families affected by TSC being for advice and support to help them manage TAND-related symptoms.
Here is a graphic that shows how TAND can affect those living with TSC. Please share this post far and wide so that your friends, family and colleagues can learn more about TSC and how it affects those living with the condition. Together, we can push for TSC to be on the radar of more people, which will help increase research and support for those with the condition.