Supporting Families. Advancing Research. Inspiring Hope.
WELCOME TO TRIM8 SYNDROME PATIENT GROUP
TRIM8 Syndrome Group is a patient-led organization which was established in 2020 and has global reach. Our mission is to provide a centralized information source and forum for TRIM8 syndrome patients and their families. We also seek to connect with researchers, doctors and therapists to support research, and raise awareness of TRIM8 Syndrome.
Educational Resources
Virtual Conferences
Global Community
Awareness & Advocacy
About Us
Who We Are
We are a patient-led organization dedicated to creating a centralized source of information for individuals and families affected by TRIM8 Syndrome.
TRIM8 Syndrome is an extremely rare condition. There are few online resources that families can easily access to obtain up to date TRIM8 research findings, connect with others, and share their experiences.
Through our group’s work our hope is to grow a TRIM8 community by bringing together patients, caregivers, healthcare professionals, and researchers through dialog, education and advocacy.
We host virtual events where families can connect with researchers and medical professionals, and stay informed about the latest developments in TRIM8 Syndrome.
Understading TRIM8 Syndrome
What is TRIM8 Syndrome? A Rare Genetic Condition
TRIM8 Syndrome is an extremely rare genetic condition caused by mutations in the TRIM8 gene. This recently identified disorder is generally characterized by early-childhood onset epilepsy, motor and developmental delay, speech apraxia and nephrotic syndrome.
The leading research on TRIM8 Syndrome has focused on nephrotic aspects of this condition. This important work is ongoing, however additional work is required to understand more about the significant neurological aspects of TRIM8 Syndrome.
Common symptoms may include:
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Developmental delay
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Speech and language difficulties, including speech apraxia
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Epilepsy or seizures beginning in early childhood
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Motor delays affecting movement and coordination
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Kidney disease (nephrotic syndrome)
It is important to note that each patient is unique and may experience varying severity of the above symptoms. Early diagnosis, ongoing medical care, occupational, physical and speech therapies, and family support are key to treating this syndrome. Ongoing treatment improves the quality of life for TRIM8 Syndrome patients and their families.
