When my daughter was born almost 24 years ago, not only did I begin my journey as a first-time parent, I embarked on an odyssey that nobody could have prepared me for. This little girl with the face ...
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 ...
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 ...
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 ...
Asperger's syndrome refers to a high-functioning form of autism. Although it was once classified as its own condition, Asperger’s is no longer an official diagnosis in the Diagnostic and ...