Chromosome 17q11.2 deletion syndrome, 1.4Mb

This study tests whether the drug SENS-401 can prevent hearing loss caused by cisplatin, a common chemotherapy. Adults with cancer who are scheduled to receive cisplatin take SENS-401 before, during, and after treatment. Hearing is measured with a standard test to see if the drug…

This study looked at 545 people with hereditary cancer syndromes and their relatives. It compared the usual method of asking patients to share testing information with family members to a new method where a registry also sends reminders. The goal was to see if the registry-aided …

This study tested whether digital care plans and text message reminders help families of children with cancer predisposition syndromes better understand their child's condition. Researchers enrolled 177 parents and measured changes in knowledge and how acceptable the digital tool…

This study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…

This study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…

This study tested a new parent questionnaire called ORALQUEST to assess feeding and eating disorders in children aged 9 months to 6 years. Researchers included 338 children with chronic conditions like heart defects or autism, as well as those with picky eating. The goal was to s…

This completed study followed 183 cancer patients starting checkpoint inhibitor therapy to see how often they develop autoantibodies—proteins that can mistakenly attack the body's own tissues. Researchers collected blood samples to track changes in several types of autoantibodies…

This study looked at whether mailing at-home genetic testing kits to relatives of people with hereditary cancer gene variants could increase the number of relatives who get tested. Researchers compared this approach to usual care in 108 participants. The goal was to see if making…