Share & Care Cockayne Syndrome & Trichothiodystrophy Network

05/20/2026

New research published this week highlights why transcription-coupled nucleotide excision repair (TC-NER) is so important for protecting cells from certain naturally occurring toxins found in foods and spices. Researchers studied methyleugenol, a compound found in herbs and spices such as basil, tarragon, nutmeg, and pimento, and discovered that cells rely heavily on TC-NER to repair the DNA damage it can cause.

The study found that when TC-NER is not working properly — as in Cockayne syndrome — cells were much more vulnerable to DNA damage, genomic instability, and cell death. The researchers specifically noted that these findings may be especially important for people with Cockayne syndrome because chronic exposure to these compounds could potentially contribute to liver stress or injury over time.

This research is another important reminder of how critical DNA repair pathways are for protecting the body from everyday environmental exposures — and why continued research into CS, TTD, XP, and transcription-coupled repair matters so much.

🧬 Every new discovery helps us better understand the challenges families face and may guide future approaches to care, prevention, and treatment.

Read the study here:
Nature – Cell Death & Disease article

Methyleugenol (ME) is a hepatotoxic phenylpropene naturally present in various herbs and spices. Following dietary exposure, ME undergoes metabolic activation in the liver, resulting in the formation of DNA adducts and liver damage. Although ME is a suspected human liver carcinogen, it is still unkn...

05/13/2026

One of the most important things our conferences do is bring families and researchers together in the same place — creating opportunities for collaboration, connection, and new research that simply would not happen otherwise.

Many scientists have shared with us how difficult it can be to study ultra-rare disorders like Cockayne syndrome (CS) and Trichothiodystrophy (TTD) because there are so few diagnosed patients worldwide. Research depends on families participating, sharing experiences, and helping researchers gather enough information to compare and corroborate findings. When families come together through Share & Care conferences, it helps make these studies possible.

Last summer during our conference in Minneapolis, families began enrolling in an important microbiome study being conducted by the University of Minnesota. Researchers are studying biological differences between children with CS or TTD and their unaffected biological siblings and parents living in the same household. Families with unaffected siblings are especially valuable for comparison.

Enrollment has been slower than hoped because participants must be antibiotic-free for at least 30 days, and the original enrollment process involved multiple sign-up links that may have caused some confusion. Thankfully, a new simplified sign-up form has now been created. https://redcap.link/cockaynesyndromemicrobiome

At this time, researchers are hoping for:
🦓 At least 3 more families with a child diagnosed with CS
🦓 At least 5 more families with a child diagnosed with TTD

Due to postal mailing regulations, we can only enroll families from the U.S. and Canada.

Please help us spread the word by sharing this post in rare disease groups, genetics communities, or with families you may know.

Our upcoming Share & Care conference will take place this July in Minneapolis, and gatherings like these do so much more than provide emotional support for families. They help strengthen science, encourage collaboration between institutions and families, support patient recruitment for studies, and open doors for future research opportunities.

This is why we also need families, volunteers, donors, and fundraisers supporting Share & Care throughout the year. Every fundraiser, every volunteer hour, every shared post, and every conference attendee helps move research and hope forward for our children.

Together, families and researchers truly can make a difference. 💛🦓

05/03/2026

❤️🦋🪽

Today, on Bereaved Mothers' Day, The Compassionate Friends is thinking of all our moms. We'd love for you to share the name(s) of your child(ren) so that we can all remember them together.

05/02/2026

Today, we share the heartbreaking news of the passing of one of our sweet children, Kayden 💛🦓

Kayden passed away on April 29th, surrounded by the love of his family.

Kayden was part of our Share & Care family for many years. We had the joy of seeing him at several of our conferences—at Dollywood in 2018, in Washington, DC in 2019, and most recently in Minneapolis last summer. Each time, he brought his bright spirit, energy, and that unmistakable sweetness that made everyone smile.

We first met Kayden at the The Children’s Inn at NIH, where his family participated in a natural history study to help researchers better understand Cockayne syndrome and prepare for future treatments. Their involvement, like so many of our families, was rooted in hope and a desire to help others.

Despite everything this disease took from him, Kayden showed us joy, resilience, and a beautiful spirit that will never be forgotten.

We are so grateful we were able to share those moments together—bringing families together is at the heart of everything we do.

It is truly heartbreaking to say goodbye.

Earlier this year, we began a new tradition within our community to honor the children we have lost. In keeping with this tradition, you will notice a black ribbon on our logo over the coming weeks—a symbol of remembrance, love, and the lasting impact these children have on all of us.

Kayden will always be part of our Share & Care family. We will carry his memory forward in every conference, every connection, and every step we take toward a cure.

Please keep Kayden’s family in your hearts during this incredibly difficult time.

💛🦓

03/11/2026

Be Part of the Change. CS & TTD Families Please complete our database form. 🤗🫶👇
👉 https://shareandcarecockaynesyndromenetwor.my.site.com/sharecare?recordId=a0lVz0000042nDd&logicalId=174e37ea-b8f9-30a5-4a53-b0aa3ebdb5bb&fbclid=IwY2xjawQdrSpleHRuA2FlbQIxMABicmlkETFZd1JJMUpOTFh3RmFEejZXc3J0YwZhcHBfaWQQMjIyMDM5MTc4ODIwMDg5MgABHiBboimylCCRcfc_5FfxmBz1ZiZdTN7Yzlpn2BmYDdDUNumG5FM4iBEcTUWg_aem_7JjCQs0HXUruZ5QbXjoxsg

03/05/2026

💛 Rare children teach the world extraordinary things.

These two sweet girls are living with Hutchinson-Gilford Progeria Syndrome (Progeria), a rare genetic condition that causes features of accelerated aging in childhood.

Other rare conditions such as Cockayne syndrome and Trichothiodystrophy can also show aspects of segmental aging, though they arise through a very different mechanism involving DNA repair (the nucleotide excision repair pathway).

Different genes. Different diseases. But every rare child helps scientists understand more about DNA, aging, and resilience. 🦓

03/02/2026

Thanks for Sharing! 🍀