Alex Irvine and her mother have received a visit from a friend from the past with two very different connections to her life. Firstly Alex graduated from Tufts University in Boston MA in 1993 and has continued to read about her classmates, the college activities and milestones of those who came after her. The President of Tufts for the last 12 years, Anthony Monaco and his wife Loia came to London to attend an event for Tufts alumnae in London; they were kind enough to spend time with the Irvines and catch up on our news and relate what their years in academia meant to them and their family. 

The second connection was made in person over 20 years ago when Tony, Director of the Wellcome Trust Centre for Human Genetics in Oxford led a team which discovered the mutant gene,  the cause of chorea-acanthocytosis (VPS13). If you wish to read the Nature article click here: https://www.researchgate.net/publication/11958149_A_conserved_sorting-associated_protein_is_mutant_in_chorea-acanthocytosis He and Adrian Danek opened the first NA Symposium organised by Adrian held in Seeon, Germany in 2003- see photo.

People are amazed when we tell them we know the President of Tufts University who just happened to lead the Oxford lab in which the VPS13 gene was discovered to be the culprit in our ultra rare disease.