RASopathies Network

@rasnet.bsky.social

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Nonprofit research advocacy org for conditions caused by dysfunctional RAS/MAPK signaling. #rasopathies #raredisease by Stronach in Pittsburgh

Webinar Announcement. Dr. David Stevenson, member of the Stanford Bone Health Care Team, and RASopathies Network scientific advisory board member, will present a talk about various musculoskeletal abnormalities and difficulties encountered in neurofibromatosis #NF1. July 22, 2026 at 1-2pm Pacific standard time. There is a QR code to register. Questions may be directed to bridgelab@stanford.edu
RASopathies are genetic syndromes caused by variants in components of the RAS/RAF/MEK/ERK signaling pathway
Stanford/LE&RN Virtual Lymphatic Summit Lymphatic Research Horizons: The Dawn of a New Era Friday, June 19, 2026 8-3pm PDT / 11-6pm EDT
Picture of Celebrity Jeopardy contestant Ike Barinholtz, in front of the Jeopardy category board, who is raising money for Noonan Syndrome Foundation. IKE IS MOVING ON TO THE FINALS!!
Webinar Reminder: Understanding the FDA's Plausible Mechanism Framework Tuesday, April 21, 1-2 p.m. ET
Everylife Foundation for Rare Diseases and Amgen present the #RAREis scholarship fund. Fifty-eight $5000 scholarships are available for individuals with rare diseases to pursue education in Fall 2026. Apply by April 28, 2026 at RareScholarship.org
Illustration of cortical sampling across three depths using T1w/T2w ratio images. Figure 1 from linked article:T1w/T2w ratio as an in vivo proxy for reduced intracortical myelin content in youth with RASopathies: a cross-sectional study
Comic of a man at a podium with a puppet of the muppet "Beaker" with the caption "And now, let me introduce today's keynote speaker."
FDA and NIH Center for Translational Science developed a platform to capture user experience with repurposed medicines. Share your treatment experience, explore what others have tried
February is Noonan Syndrome Awareness Month. Noonan syndrome is named for Dr. Jacqueline Noonan, a cardiologist who first recognized and published a paper with nine individuals who had cardiac anomalies, short stature, chest deformities, and pulmonary valve stenosis. More info from Noonan Syndrome Foundation at www.teamnoonan.org
Incidence and severity of SARS-CoV-2 infection and vaccine BNT162 side effects in children and adolescents with Noonan Syndrome: a national multicentric study
Treatment of a teenager with an ultrarare condition is a medical milestone
Noonan syndrome is a RASopathy characterised by short stature, heart disease and brain-related disorders. Brain-related disorders include intellectual developmental disorder (IDD), autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD), among others. IDD, ASD and ADHD were estimated to affect 23%, 11% and 31% of individuals, respectively. This is higher than the prevalence in the general population. The prevalence of seizure disorders and emotional disorders was also high, although the evidence was more limited.
Graphical Abstract: Clinical Characteristics and Etiology-Specific Outcomes in Pediatric Hypertrophic Cardiomyopathy
Invitation to the Empowered Together Pennsylvania Legislative Briefing with the Skeletal Conditions Advocacy Coalition on October 28, 2025 to advocate for rare disease awareness and disability and medicaid services.
Graphic with logos of sponsors who supported the 9th International Rasopathies Symposium in 2025
a group of students and postdocs receiving award certificates for their highly significant poster abstract submissions on the opening night of the RASopathies conference in 2025
Figure 6 Phenotype trajectory diagram for the Noonan syndrome individualI2 from the Undiagnosed Diseases Program Services Singapore
woman standing next to a company logo
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies