Dyskeratosis congenita

This study tests a software platform called Nest that helps young adults (ages 18-49) with inherited cancer risks manage their care. Participants will use the tool to track screening and share information with doctors and family. Researchers will compare users to non-users to see…

This study tests a stem cell transplant method for people with acquired or inherited bone marrow failure. Donor stem cells are specially processed to remove certain immune cells, which may lower the risk of graft rejection and graft-versus-host disease. The goal is to see if this…

This pilot study tests a fludarabine-based drug regimen to prepare children with bone marrow failure syndromes for a bone marrow transplant from a matched sibling donor. The goal is to help the donor cells successfully take root while reducing serious side effects. The study incl…

This study tests a bone marrow transplant method that avoids harsh chemotherapy and radiation for people with dyskeratosis congenita, a genetic disorder causing bone marrow failure. The goal is to fix the blood system without worsening lung or liver disease or raising cancer risk…

This study tests a two-year follow-up program for 200 adults with hereditary cancer syndromes like BRCA or Lynch syndrome. Participants get personalized care plans and regular check-ins with a genetics doctor to help them follow cancer prevention and screening guidelines. The goa…

This study is developing a blood test to find early-stage tumors in people with hereditary cancer syndromes (high genetic risk for cancer). Researchers will collect blood samples and medical data from about 1,400 participants across Canada. They will also interview patients and d…

This study will collect blood and tumor tissue from up to 50,000 adults with hereditary or genetic-linked cancers. Researchers will use these samples to create lab-grown tumor models, like mini-tumors, to study how these cancers work and test new treatments. The goal is to better…

This study looks at whether short educational videos can help people with inherited cancer gene mutations learn more about their condition. About 43 adults who carry mutations in genes like BRCA1 or BRCA2 will watch the videos and then take a quiz. The goal is to see if this simp…

This study is testing a chatbot and online portal called AYA-RISE to help adolescents and young adults (ages 12-24) who have genetic conditions that raise their cancer risk. The goal is to see if the tool helps them communicate with family and doctors and make informed decisions …

This study is creating a web-based program to help people with hereditary cancer mutations share their genetic test results with family members. The goal is to increase awareness among at-risk relatives so they can take steps to prevent cancer. The program is designed for patient…

This study tests two simple, scalable methods to help people with inherited cancer risk follow through on recommended screenings. Researchers will provide online educational resources and personalized phone outreach to 900 participants. The goal is to see if these approaches impr…

This study looks at the complete DNA and RNA of 10 people and their families who are at high risk for hereditary cancer but have no known genetic cause. Researchers will use whole genome sequencing and tumor analysis to discover new genetic changes that may lead to cancer. The go…

The IMPACT Study is testing two online tools—GeneSHARE and LivingLabReport—to help people with inherited cancer gene variants share their results with family members and follow cancer screening guidelines. The study involves 720 adults who have a genetic variant linked to cancers…