looking for more patients

For the attention of parents with kids with variants in the ATP6V0A1 gene.

We have done some work to characterise variants in the Atp6v0a1 gene in the laboratory setting. We are now looking to include children or adults affected by variants in ATP6V0A1 in a study to develop new knowledge combining the clinical spectrum (signs, symptoms and complications), and genetic and scientific data. 

We will include new individuals (those not in previous publications) as well those already in previous publications for follow up data, given how rare this condition is. 

We are working with Profs Carlo Rinaldi, Renzo Guerrini, and Dr. Davide Mei, whom have clinical and scientific interests in the neurological V-ATPase disorders.

Please contact us below if you would like more information and would like to participate in the study which involves data collection from your clinicians/ physicians (neurologist, geneticists, pediatrician) who will also be included in the study.

With warm wishes,

Dr. Kasia Whysall mom of Niamh - https://iamnumber17.ie/ - and Scientist

Prof. Nicholas Allen, Niamh’s Neurologist

Reach out: kasia.whysall@universityofgalway.ie