INVER GROVE HEIGHTS, Minn. — Two mothers are finding strength in each other as they fight for a possible groundbreaking treatment for their daughters. Emily Knopik’s 5-year-old daughter, Mae, and ...

On the occasion of Rare Disease Day, the Biofisika Institute (CSIC, EHU) presents the progress of a project aimed at understanding the molecular origin of CTNNB1 neurodevelopmental syndrome, a rare ...

Loss-of-function mutations in the CTNNB1 gene cause β-catenin deficiency, leading to CTNNB1 syndrome, a rare neurodevelopmental disorder marked by motor and cognitive impairments. Because the disease ...

Patients with CTNNB1 Syndrome will benefit from this joint effort to develop and manufacture a new AAV investigational gene therapy, which aims to restore gene function and may improve quality of life ...

MOBILE, Ala. (WALA) - Shreve McWilliams is so happy every day despite the challenges that she has faced since she was born. Her parents discovered through private genetic testing that she has a very ...

CTNNB1 syndrome is a neurodevelopmental disorder characterized by intellectual disability, global developmental delay, microcephaly and motor disabilities, among others, caused by pathogenic ...

LAKEVILLE, Minn. — Little Lucy Hieb is battling one of the rarest diseases in the world. Called CTNNB1 Syndrome, it affects the 10-month-old's ability to do almost everything. It's so rare that ...

Emily and Cody Amerson from Mount Pleasant, like any first-time parents, were excited to welcome their new baby girl into the world in August 2021. Emily’s pregnancy was normal. Her delivery was ...