An online assistance service for those needing information about a rare genetic disease.
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Info_rare is a free online assistance service designed for those seeking clear and certified information about genetic diseases.
The service is supported by the medical and scientific expertise of two specialists in Medical Genetics, who respond to inquiries via email.
These inquiries may include detailed questions about rare genetic diseases, ongoing research projects, clinical centers, and patient associations.
What questions does Info_rare address?
- Info_rare provides guidance on diagnostic centers and reference facilities for the care of patients with rare genetic diseases
- It also offers updates on scientific publications, current studies, and clinical trials conducted by Fondazione Telethon and other organizations
- Additionally, it shares useful contacts for patient associations related to rare genetic conditions
Responses from the geneticists typically take around four weeks, but they strive to prioritize urgent requests and ensure timely replies to all inquiries.
It is important to note that this service is entirely free and purely informational; it does not substitute for a formal genetic consultation, which requires an in-person evaluation by a specialist.
Furthermore, clinical opinions or therapeutic recommendations cannot be provided, as these require a direct assessment of the patient’s condition.
