COMBINEDBrain - Outcome Measures and Biomarkers for Neurodevelopmental

10/17/2025

The Research Roundtable on Neurodevelopmental Disorders ( ), one of ‘s newest initiatives, is expanding its membership pool. Sponsoring members will have the opportunity to engage with subject matter experts from various disciplines, including regulatory officials and patient advocacy groups, in a pre-competitive setting. The RR-NDD is a forum that facilitates the development, and implementation of new treatments and diagnostic tools for individuals with rare genetic neurodevelopmental disorders.

For more information about the RR-NDD, contact Emily McDowell, [email protected].

10/08/2025

COMBINEDBrain is pleased to announce its partnership with the Medical University of South Carolina (MUSC) to establish a biorepository for pediatric cerebrospinal fluid and CNS tissue bank. This is a groundbreaking collaboration to expedite development of treatments for neurological diseases.

Read more here: https://www.eurekalert.org/news-releases/1101102

07/25/2025

Today, July 25, is the first-ever GENETIC TESTING ACTION DAY! COMBINEDBrain is proud to raise awareness about why early genetic testing matters and urge families facing developmental / medical concerns to talk to their doctors about genetic testing.

Join the movement by spreading the message on social media and visit StartGenetic.org to download the free Parent Toolkit.

07/20/2025

Too many families face years of uncertainty about their child’s development and medical issues. That’s why we’re joining CureShank and many other rare disease patient advocacy groups to promote early genetic testing as a first step through Genetic Testing Action Day on July 25. Visit StartGenetic.org to access family-friendly tools and be part of the movement.

07/17/2025

Today is Koolen-de Vries Syndrome (KdVS) Awareness. KdVS is a rare genetic condition caused by a microdeletion on chromosome 17 or a variant in the KANSL1 gene. First identified in 2006, KdVS affects approximately 1 in 30,000 individuals worldwide. It is characterized by developmental delays, low muscle tone, intellectual disability, and distinctive facial features. Many individuals with KdVS also experience epilepsy, congenital heart defects, feeding challenges, and differences in behavior and learning. Because the condition can vary widely from person to person, diagnosis often requires genetic testing.

Though KdVS is rare, the impact on families is significant and growing awareness is critical. The Koolen-de Vries Syndrome Foundation (KdVSF) works to support families, fund research, and connect the global KdVS community. With only 18 years of research behind us, there’s still so much to learn about the long-term needs and care strategies for those living with KdVS. Greater visibility means earlier diagnosis, better resources, and stronger support for families navigating this complex journey. For more information about KdVS, please visit www.kdvsfoundation.org.

Hashtags to use for KdVS Awareness Day:

07/17/2025

We’re proud to support the campaign to raise awareness about early genetic testing.

Mark your calendar for Genetic Testing Action Day on July 25 and download the free Parent Toolkit at StartGenetic.org.

03/20/2025

COMBINEDBrain, in partnership with Jeeva, is pleased to announce that our ORTAS Survey is live and accepting participants to beta test the survey! Please contact us for more information at [email protected]. Please Like and Share!

02/28/2025

Join us today as COMBINEDBrain celebrates Rare Disease Day!

You may see a lot of zebras on social media today because a zebra is the official mascot for rare disease patients. Historically, medical professionals were told that when they “hear hoofbeats,” they should not expect to see a zebra. In other words, look for the more common answer, a horse. Now, we know that one in ten Americans is actually a zebra! It might not be obvious when you look at us, which is why we show our stripes to raise awareness. Show your stripes, learn some facts, and celebrate rare! 🦓❤️

02/26/2025

Announcing a new opportunity for COMBINEDBrain! And for finding treatments for rare genetic neurodevelopmental disorders!

Curetopia, the world’s first biotech Decentralized Autonomous Organization (BioDAO) founded by Dr. Ethan Perlstein, Ph.D., launched a cryptocurrency auction on February 18. Previously, Perlstein founded Perlara, the world’s first biotech Public Benefit Corporation focused on rare diseases. The mission of Curetopia is to unite rare disease communities and their allies, researchers and clinicians, DeSci enthusiasts (DeScientists), and the global crypto community in common cause for cures.

Unravel Biosciences, founded by Dr. Richard Novak and Dr. Frederic Vigneault, has a mission to transform the paradigm of drug development by clinically de-risking new targets using existing drugs. COMBINEDBrain is partnering with Unravel to make its drug screening available to all member organizations. Curetopia brings all of these collaborators together!

Last week, Curetopia launched an online community token auction - $CURES, hosted on Solana. The auction is open to the public. The initial token sale went live on Tuesday, February 18th, and will run for 21 days, culminating on Tuesday, March 11, 2025.

If the $CURES token auction makes sufficient token sales (goal: $4,000,000), a portion of the funds will be used to fund COMBINEDBrain’s project with Unravel which will include member patient advocacy groups who choose to participate.

For further details, please refer to Curetopia’s
Fact Sheet: https://lnkd.in/g_94Wu-V
Website: https://www.curetopia.xyz/
Auction Link: https://lnkd.in/dkeZy7W9

08/20/2024

Today, Nature Magazine published a profile on our CEO, Terry Jo Vetters Bichell by Elizabeth Landau. The rare disease field is filled with amazing parents who get bad news and quickly pivot to help the world. Our governing board and member leaders are among those with similar inspiring stories: Amber Freed, Nuala Summerfield, Cacna1a Foundation, Cure GRIN Foundation, Project 8p, a rare chromosome 8p disorder, CureSHANK, Mike Graglia, CHAMP1ResearchFoundation, Sarah Glass, Justin West, Kim Nye, Jennifer Grossman Sills, Gaba-A Alliance, Yellow Brick Road Project - YBRP, Inc., Stxbp1 Disorders, Rachel Forest Heilmann, Angelman Syndrome Foundation Foundation for Angelman Syndrome Therapeutics, to name just a few.

Terry Jo Bichell felt the need to work on a scientific solution to her son’s rare disorder, even though it meant being a PhD student in her fifties.

03/01/2024

Rare Disease Week is coming to a close and so much got done!