The Sulston Project Home PROJECT About Project Policy Delphi TOPICS Inclusion & Equity Payer Patent Stories Research Case Studies Publications Related Projects Team contact PATIENT STORIES Katherine Dines (Long-QT) Katherine Dines has survived and persevered through her diagnosis of Long-QT, a hereditary rhythmic heart condition that causes a chaotic, irregular heartbeat. The condition’s name stems from the fact that the length between the Q and T waves on an electrocardiogram are extended in patients with the disorder. Kathleen Maxian (Breast and Ovarian Cancer) Kathleen Maxian hails from Pendleton, NY, a small suburb in Western New York. Growing up, her sister Eileen was her rock. So when Eileen was diagnosed with breast cancer at 40, it was a devastating blow to Kathleen as well. Lisa Schlager (Breast Cancer) Lisa was in her early 30s, was recently married, and had a career that was just taking off. She was hesitant, as genetic tests looking for BRCA mutations were new and under-researched. As the next eldest woman in the family, she had the most at stake in her paternal aunt’s diagnosis. The Dubin Family (Lynch Syndrome) Dave Dubin always thought he may have colon cancer. His dad and grandfather had both had it in their lifetimes. In 1997, the cancer struck early. Dave was 29, but he knew the routine. Surgery, chemotherapy, colonoscopies—he was ready. However, he wasn’t ready to do it all over again, a decade after his first fight with cancer. The Graglia Family (SynGAP) Tony was one of about 500 children with SynGAP. Discovered only 20 years ago, the disease results from a mutation in the SYNGAP1 gene, a gene that codes for a critical neurological protein called SynGAP. In most cases, the mutation is not inherited from the mother or father, but rather arises from a DNA copying error during cell division in sperm, egg, or embryos (most often in the process of making sperm).