Wolf-Hirschhorn Syndrome(Deletion Syndrome)

Researchers are studying individuals with rare genetic changes linked to neurodevelopmental disorders and features of autism through an international, observational research program called Simons Searchlight. This program aims to gather detailed medical, behavioral, learning, and developmental information to enhance clinical care and treatment for people with these genetic differences. The study is supported by the Simons Foundation, which focuses on finding science-based solutions to improve lives. Participants join remotely via an online platform or phone, allowing English and Spanish-speaking families worldwide to take part at convenient times. They may provide blood or saliva samples, which are connected to their health and developmental data for research purposes. The collected information is anonymized and shared with qualified scientists globally to advance understanding of specific gene changes. During the study, baseline data is collected over about one month, with ongoing follow-up data gathered regularly to track changes over time. Participants provide comprehensive information about their medical, behavioral, learning, and developmental status. The study does not involve treatment but focuses on detailed data collection to support research. Participation can continue long-term, helping researchers monitor and learn from these rare genetic variants.

Researchers are conducting a patient registry and natural history study called Coordination of Rare Diseases at Sanford (CoRDS) to support research on rare diseases. CoRDS is an international registry that connects patients with rare, undiagnosed, or uncommon diseases to researchers studying over 7,000 rare diseases. This program aims to help advance treatments and cures by facilitating easy collaboration between patients, advocacy groups, and researchers. It is based at Sanford Research in Sioux Falls, South Dakota, and is free for patients to join and for researchers to access. Participants provide contact, sociodemographic, and health information, which is entered into CoRDS and linked to a unique coded identifier. Examples of collected data include name, mailing address, phone number, email, date and place of birth, sex, gender, ethnicity, family history, and diagnosis-related information. De-identified information may be shared with approved researchers after review by an Institutional Review Board and expert panel. Some data may also be shared with other databases and patient advocacy groups, with protections to prevent misuse for research purposes. Participants are contacted yearly to confirm continued participation and to update their information. If a parent or legal guardian consents for a minor, the participant will be contacted at age 18 to provide their own consent. The primary goal is to accelerate research by connecting individuals interested in rare disease research with scientists over a long period of up to 100 years. There is no treatment given, as this is an observational registry study.