We also do genetic research towards finding the cause of Aicardi syndrome, a rare neurodevelopmental disorder in girls that affects development of eyes and brain, causing severe seizures, and ...

More information: Francesco Gavazzi et al, Nonverbal Cognitive Skills in Children With Aicardi Goutières Syndrome, Neurology ...

Little Brianna Millican (3) was returning home after surgery when parents were told it was not safe for her to fly - despite ...

Adelia was born with Aicardi Syndrome, a rare genetic disorder caused by a genetic deletion. It opened pathways to a variety of things such as vision and hearing problems, seizures and more ...

We also work on identifying and characterizing the genetic defects that cause X-linked dominant conditions. Specifically, we work on finding the cause of Aicardi syndrome, a severe neurodevelopmental ...

Mutations in TREX1 cause autoimmune diseases such as Aicardi–Goutières syndrome and chilblain lupus. Therapies that target TREX1 have broad applicability across a range of tumor types ...

"Every day is a blessing with her," said Tracy Hoel. "She was born with a rare genetic disorder that affects girls called Aicardi syndrome, and her neurologist said she would live maybe one year.

Phippin Tingey lives with Aicardi-Goutieres syndrome (AGS), a rare genetic disorder that impacts his brain and spinal cord and limits his mobility. Phippin has a passion for acting and several ...

4-year-old "Bobbi" Dougharty was born with a rare genetic disorder called Aicardi Syndrome, because of this she goes through life in a wheelchair facing daily obstacles. "She's missing her corpus ...

Bella has Aicardi syndrome, and what her mother described was most of her life as a toddler. "She would have seizures, wake up for a seizure, and then go back to sleep," Bowker says. The Bowkers ...

Overcoming imposter syndrome involves changing a person's mindset about their own abilities. Imposters feel like they don’t belong, so acknowledging their expertise and accomplishments is key ...