Bebê de 11 meses foi diagnosticada com mutação genética rara CACNA1E, registrada em cerca de 100 pessoas no mundo.

Experts say only about 150 people in the world are living with an ultra-rare genetic disorder called CACNA1E. One of those people is a 1-year-old girl living in Waterford.

Experts say only about 150 people in the world are living with an ultra-rare genetic disorder called CACNA1E. One of those people is a 1-year-old girl living in Waterford.

An 11-month-old girl is battling CACNA1E, a rare genetic disorder affecting fewer than 100 people. Her family hopes for a treatment breakthrough.

Lorelei Dunn, de 11 meses, é um dos poucos casos de CACNA1E no mundo. Mesmo com limitações, família comemora que bebê continua sorrindo

The intricate world of genetic science has taken an exhilarating turn, especially with the advancements in sequencing technologies. A recent study titled “Cataloging the potential functional d

We are a group of passionate parents from all over the world coming together to fund life-changing research on CACNA1E.

Apel lansat de Asociația „Salvează o Inimă” pentru singurul copil din România care luptă cu mutația 𝐂𝐀𝐂𝐍𝐀𝟏𝐄.

The intricate world of genetic science has taken an exhilarating turn, especially with the advancements in sequencing technologies. A recent study titled "Cataloging the potential functional diversity of Cacna1e splice variants using long-read sequencing," led by Bhuiyan et al., delves into the complexities of splice variants of the Cacna1e gene. This research holds remarkable implications for understanding genetic diversity and functional mechanisms, establishing a foundation for further explorations in genomics.

Kayleigh and Ryan Dunn’s daughter, Lorelei, has CACNA1E