by Ashley Kus | Jul 8, 2026 | Media Room, Uncategorized
By https://newsinhealth.nih.gov/ Grief is something we all go through. It can follow the death of someone you love, the end of a relationship, or another major loss or life change. While experiencing grief is normal and natural, it can still feel hard to understand....
by Ashley Kus | Jul 8, 2026 | Media Room, Uncategorized
By Parenting Special Needs The intersection between special needs and medical needs can be a messy one. While neurodivergence and disability don’t always cause medical complexities, comorbidities are common. Down syndrome is a fine example that I am well acquainted...
by Ashley Kus | Jul 8, 2026 | Media Room, Uncategorized
By https://courageousparentsnetwork.org/ Any of us dealing with a life threatening diagnosis for our child has probably had moments of asking “why me?”. And yes to be sure the situation is affecting our child more directly than either parent but that doesn’t stop us...Research Center for Excellence
The University of Edinburgh is one of the world’s leading centers for human genetics research — and for families and scientists working to understand Cornelia de Lange Syndrome, it is home to some of the most important work being done anywhere.
Dr. Wendy Bickmore is Director of the MRC Human Genetics Unit at the Institute of Genetics and Cancer at the University of Edinburgh, where her laboratory focuses on how the spatial organization of the nucleus influences genome function in development and disease. Her work sits at the heart of what drives CdLS: understanding how genes are regulated, packaged, and expressed — and what happens when that process goes wrong.
Dr. Bickmore’s research has contributed directly to the scientific understanding of CdLS. Her laboratory identified that the clinical features associated with BRD4 overlap with those of Cornelia de Lange Syndrome, which is most often caused by mutations in NIPBL, and showed that BRD4 and NIPBL appear to co-regulate developmental gene expression. This kind of discovery — connecting molecular mechanisms to the lived experience of CdLS — is exactly what the Foundation’s Research Center of Excellence program is designed to recognize and support.
Dr. Bickmore is a Fellow of the Royal Society, a Fellow of the Academy of Medical Sciences, a Fellow of the Royal Society of Edinburgh, and an elected Foreign Member of the National Academy of Sciences (USA). She brings not only scientific distinction but a genuine commitment to the CdLS community, including participation in the Foundation’s scientific symposia.
The University of Edinburgh was designated a CdLS Foundation Research Center of Excellence in June 2026.
For families navigating a new or complex diagnosis of Cornelia de Lange Syndrome, the Children’s Hospital of Philadelphia (CHOP) is one of the places where trusted guidance and rigorous science come together. The Center for Cornelia de Lange Syndrome and Related Diagnoses at CHOP provides specialized multidisciplinary care, ensuring that clinical support and scientific understanding inform one another at every step.
The work done here has fundamentally changed what is known about CdLS. Research led by the CHOP team resulted in the identification of the first genes associated with the syndrome, NIPBL, SMC1A, and SMC3, discoveries that made molecular diagnosis possible and opened pathways for research that continues to shape care worldwide.
This is what it means when lived experience and science are not separate: the families who come through this clinic are connected to a body of knowledge being actively built on their behalf, and the researchers here are grounded in the realities those families navigate every day.
Contact Us
To learn more or schedule an appointment, please contact Baergen Schultz, LCGC, 📞 1-844-873-4642 or book online here.
📍 3401 Civic Center Blvd. Philadelphia, PA 19104 – Main Building
When families arrive at a CdLS diagnosis, one of the most important things they need is someone who has been here before and who knows the syndrome, understands what families face, and can help them find their footing. The CdLS clinic at Greater Baltimore Medical Center (GBMC) has been that place for families for more than two decades.
Dr. Antonie Kline established the clinic in 2000, recognizing that consistent, specialized care was essential for individuals with CdLS at every stage of life. What has emerged since is not just a clinical practice, but a body of knowledge, grounded in long-term relationships with patients and families, that continues to inform how CdLS is understood and managed.
Today, GBMC’s most promising research focuses on aging in CdLS, which is an area that reflects the Foundation’s commitment to lifespan-oriented care. For the families who come here, that means being part of something that not only responds to their needs today, but also builds understanding that will benefit those who follow.
Contact Us
To learn more or schedule an appointment, please contact the CdLS Foundation: 📞 (860) 899-9391 📧 [email protected] 📍 Greater Baltimore Medical Center – 6701 N. Chales St. Towson, MD 21204
No family navigating a CdLS diagnosis should have to navigate it alone or travel great distances to reach care from someone who truly understands the syndrome. The designation of Shriners Children’s Salt Lake City as a Center of Excellence is a direct expression of that commitment.
This center brings specialized, multidisciplinary CdLS care to families across the Mountain West, reducing the distance between a family’s daily reality and the clinical expertise they need. The Shriners team brings a strong, growing knowledge of CdLS, a commitment to collaboration, and a shared belief that the best care is built through ongoing connections with families, researchers, and clinicians across the broader network.
This is how the system grows: not just by deepening expertise at established centers, but by extending the reach of that expertise so that more families can be met where they are, in the moment they need it most.
Contact Us
To learn more or schedule an appointment, please contact Michelle Nylander: 📧 [email protected] 📍 1275 E Fairfax Rd. Salt Lake City UT 84103
Cohen Children’s Medical Center (CCMC) at Northwell Health is proud to be designated a CdLS Foundation Center of Excellence — one of a select group of institutions recognized for delivering the highest standard of clinical care and research for individuals with Cornelia de Lange Syndrome (CdLS) and their families.
Expert, Compassionate Care Close to Home
Our dedicated CdLS Multidisciplinary Clinic brings together specialists across Genetics, Gastroenterology, Child Development, and Physical Therapy — all under one roof. We work closely with our physicians across all pediatric specialists (e.g. endocrinology and neurology) at CCMC to offer additional extensive care as needed. Families benefit from coordinated, comprehensive care supported by dedicated genetic counselors and administrative staff committed to a seamless experience.
World-Renowned Leadership
Our program is led by Dr. Ian Krantz, M.D., an internationally recognized authority on CdLS with over 20 years of experience building and leading the CdLS Center at Children’s Hospital of Philadelphia (CHOP). Dr. Krantz brings unparalleled clinical expertise and a deep commitment to this community to Northwell Health.
Advancing CdLS Research
Our group at CCMC/Northwell and its world-renowned research institute, the Feinstein Institutes for Medical Research, conducts original research focused on biomarker development and new therapeutic strategies for CdLS. We are actively engaged in collaborative and basic translational research including sharing our data and samples from approximately 2,000 individuals with CdLS gathered over decades of research. Additionally, we have established the Northwell Genomic Health Initiative (NGHI), a large biorepository composed of clinical, genomic, and biological samples for ongoing and future research. Our research is driven by one goal: better outcomes and quality of life for every individual with CdLS.
We welcome collaboration with clinicians and researchers. Contact us to discuss referrals, joint research initiatives, or data sharing opportunities.
Partnering with Families
We believe families are essential partners in care and research. We work closely with the CdLS Foundation’s Family Services team and are committed to providing resources, education, and support every step of the way.
Contact Us
To learn more or schedule an appointment, please contact Lead Michelle Duffe MS, CGC: 📞 (516) 918-4800 📧 [email protected] 📍 225 Community Drive, Suite 110, Great Neck, NY 11021
Understanding what causes CdLS at a molecular level is essential to everything that follows, from diagnosis to care to the possibility of treatment. The research team at UC Irvine has been central to building that understanding, and their work has changed what is possible for families affected by the syndrome.
In collaboration with researchers at CHOP, the team helped identify NIPBL, which is the gene responsible for the majority of CdLS cases. That discovery was not just a scientific milestone. It enabled molecular diagnosis, opened new research pathways, and set in motion a body of work that continues to inform how CdLS is understood across the scientific community.
The team has since developed mouse and zebrafish models of CdLS to explore how the syndrome affects development, including cardiovascular, structural, and neurological changes, and to test approaches that may one day help prevent or treat those effects. This is the kind of foundational science that connects lived experience to future possibility: work shaped by the realities families face and by the ways families are helping carry the work forward.
Hope in the context of CdLS is not passive. It is the result of people, researchers, families, and clinicians actively working to understand what is happening at a biological level and what might one day be made possible. The work at the Stowers Institute is a clear expression of that.
Investigator Jennifer Gerton, Ph.D., is pursuing research into the basic biological functions of the genes that, when mutated, cause CdLS. Her work is not speculative; it is contributing directly to a better understanding of the molecular basis of the syndrome and to the identification of pathways that could lead to meaningful therapeutic approaches.
What is being built here is the kind of foundational knowledge that treatments depend on. And because that work is connected to the Foundation’s broader network of families and clinicians, it is not happening in isolation. This work is happening in partnership with families, informed by their lived experience and centered on a future they are helping to shape.
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