STAG1 Awareness Day

August 30th
This is the day we celebrate STAG1 on the anniversary of the foundation’s incorporation.

Rare Disease Day

Feb. 28th
Rare Disease Day is the last day in February where we raise awareness for patients, families, and caregivers around the world that are affected by rare disease.

Zoom Gatherings

Want to speak to fellow STAG1 families? If interested email or join our Facebook Group.

Clinical Resources

Newly Diagnosed?

What is the STAG1 gene mutation?
The Science:
“The cohesin complex is a large evolutionary conserved functional unit which plays an essential role in DNA repair and replication, chromosome segregation and gene expression. It consists of four core proteins, SMC1A, SMC3, RAD21, and STAG1/2, and by proteins regulating the interaction between the complex and the chromosomes. Mutations in the genes coding for these proteins have been demonstrated to cause multisystem developmental disorders known as “cohesinopathies”. The most frequent and well recognized among these distinctive clinical conditions are the Cornelia de Lange syndrome (CdLS, OMIM 122470) and Roberts syndrome (OMIM 268300). STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. Pathogenic variants in STAG1 gene have recently been reported to cause an emerging syndromic form of neurodevelopmental disorder that is to date poorly characterized.”

STAG1 Gene Disorder Definition from A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, variable degrees of intellectual disability, and facial dysmorphism (including high nasal bridge, deep-set eyes, and wide mouth), often associated with feeding difficulties and/or gastroesophageal reflux. Additional reported manifestations are seizures, hypotonia, autistic features, and joint laxity. Brain imaging may show non-specific features (such as cerebral atrophy).

For more symptoms and information please click here for the medical publications on STAG1.

STAG1 Gene Quick Reference


Request to join our private Facebook Group for loved ones with the STAG1 Gene. We’ve been finding each other online since 2017.

Lessons from Liz. Carrie has been writing about her daughter on this Facebook Page. Follow along to see the lessons we learn from Liz.

Follow us on our Social Media pages.

Still have questions?

Get in touch with us by filling out the form on our Contact page.

Advocate + Educate

How to advocate and educate for your child:

Use this pamphlet to hand out to patients’ physicians who are newly diagnosed

STAG1 Gene Brochure

STAG1 Gene Quick Reference

Register for Our Registry

Share Your Story

Fundraising opportunities:
Raise funds through Facebook. Facebook does not take any fees and has been the most successful for fundraisers. Celebrate your birthday, STAG1 awareness day, rare disease day, Giving Tuesday, etc to raise funds for STAG1.

Follow our social media accounts and share the content. You can write letters to family and friends encouraging support for our foundation or even host a golf outing. There are many avenues to support our cause.

Purchase merchandise from our Bonfire shop. We have many different shirts and merchandise available for purchase.

*Each new design that we create for a t-shirt will be named after one of our own STAG1 kids. Currently, check out the Ashton and the Ryder shirts.

Insurance resources:
With a rare gene mutation and no syndrome name, getting insurance coverage for essential services, therapies, and medical expenses can be daunting. This website is a state by state resource for Medicaid waivers when dealing with individuals with different spectrum of abilities. It shows many different waiver programs which include community services for respite, enhanced transportation, community living supports, environmental accessibility adaptations and specialized medical equipment & supplies, and specialty service for individuals with autism, DD, or IDD, etc.