RASopatii România

21/08/2026

21/08/2026

🧠 Looking back at an inspiring day at !

The EURAS symposium brought researchers together in Barcelona to explore how changes in neuronal networks contribute to neurodevelopmental disorders and what this could mean for future therapies.

The enthusiastic response also sparked new interest in EURAS resources and opportunities for collaboration. 🌍🔬

What did we take away from FENS, and where do we go from here?

👉 Read the full story: tinyurl.com/3ptmx6d3

17/08/2026

💜 Reflux in Costello Syndrome 💜

Many people think reflux is simply "spit-up," but for children with Costello syndrome, it can be much more serious.

Gastro-oesophageal reflux (GERD) is extremely common in babies and children with Costello syndrome and can affect feeding, growth, sleep, comfort, and overall quality of life.

Common signs can include:

• Frequent vomiting or spitting up
• Feeding difficulties or food refusal
• Irritability or discomfort during and after feeds
• Poor weight gain
• Coughing, wheezing, or breathing difficulties

Early recognition and treatment can make a tremendous difference. Medical care, nutritional support, therapy, and regular follow-up can help children thrive.

Every child with Costello syndrome is unique, and every small step forward deserves to be celebrated. 💜

To all the families navigating this journey: you are not alone.

09/07/2026

The 9th International RASopathies Symposium.
https://pubmed.ncbi.nlm.nih.gov/41834696/
The 9th International RASopathies Symposium, a biennial meeting, was organized by the patient advocacy group RASopathies Network and showcased recent discoveries, case studies, and advances in preclinical research. Participants, who included scientists, clinicians, industry representatives, patients, and family advocates, explored knowledge gaps, innovative clinical approaches, and lived experiences of individuals with a RASopathy. Sessions centered around organ systems were introduced with a patient perspective to highlight the burden of disease, continued with presentations from established and early-career investigators. Overall, the RASopathies Symposia serve as a catalyst for sustained community collaboration focused on enhancing patient health and accelerating the translation of discoveries into effective treatments.

09/07/2026

💙 Research Spotlight: Costello Syndrome

A research paper published in 2005 helped us better understand that people with Costello syndrome have a higher chance of developing certain types of cancer than the general population.

The most common cancers reported were:
💙 Rhabdomyosarcoma (a rare childhood cancer)
💙 Neuroblastoma
💙 Bladder cancer (which is very unusual in children)

One of the paper's most important messages was that recognising Costello syndrome early helps families and healthcare teams stay aware of these risks and investigate any unusual symptoms as soon as possible.

Although this study is now over 20 years old, it was an important step forward. Since then, researchers have discovered that Costello syndrome is caused by changes in the HRAS gene, and screening and medical care have continued to improve.

Every piece of research brings us closer to better understanding, better care, and brighter futures for everyone living with Costello syndrome. 💙

Ref: Tumor Predisposition in Costello Syndrome
KAREN W. GRIPP
American Journal of Medical Genetics Part C (Semin. Med. Genet.) 137C:72–77 (2005)

09/07/2026

09/07/2026

💙 Managing Costello Syndrome: An Essential Guide for Families & Doctors 💙

Because Costello syndrome is so rare, it can sometimes be tough to find medical professionals who know exactly how to manage it. That’s why an international team of expert doctors put together a complete guide for managing Costello syndrome across a person's lifespan.

Since the condition affects many parts of the body—including the heart, growth, muscles, nerves, and skin—having a roadmap is so important for everyday care and regular health screenings.

Whether you are a parent, a caregiver, or looking to share information with your child’s medical team, you can download the full, easy-to-read report.

🌍 The guidelines are available in English, Spanish, French, German, and many other languages!

📖 Download the guidelines from the link in the description