Web community

How to apply?

·         Patients

·         UDNI members


Requirements for Online Application

If you decide to apply for this study, you will need to answer a series of brief questions through our application portal related to the following:

-  Contact information

-  Demographic information

-  Primary licensed healthcare provider information (name, address, phone, FAX, email)

-  Brief medical history questions

-  Previous evaluations

-  A referral letter from a primary licensed healthcare provider is also necessary in order to submit the online application to the UDN. This referral letter must include:

1. Pertinent medical problems and prior diagnoses;

2. Medical records of physical examinations, hospitalizations, pertinent office visits, specialist consultations;

3. Laboratory test results;

4. Imaging on disks;

5. Biopsy slides when available;

6. Video of speech, gait, hand movements when impaire

UDNI members

Requirements for Online Application

Membership will be open to clinical investigators who serve undiagnosed disease patients from all countries. Members agree to adhere to the following principles:

-  Patients enrolled in the UDNI should be selected for the unique characteristics of their disorder and for its potential to inform new aspects of cell biology, pathogenetic mechanism(s) and therapy. Candidate patients should have been extensively examined already, so that obvious diagnoses have been eliminated.

-  Accepted patients should be thoroughly evaluated by the UDNI, preferably at no cost to the patient.

-  Patients should consent to share their data with other investigators within the group, according to the tenets of the Helsinki Declaration and/or of Good Clinical Practices. Patient phenotypes should be expressed using a standard ontology system in order to build up a highly integrated database.

-  Next-generation sequencing and other -omics analyses (e.g., proteomics, glycomics, lipidomics) should be performed on enrolled families/patients (trios or quartets when possible), and analyzed with some uniformity and according to state-of-the-art protocols. New tools will be applied in some cases, including when a non-genetic undiagnosed disease (e.g., rare infections or poisonings) is suspected. Return of results will conform to site-specific consents.

-  The -omics and phenotypic data should be shared among members of the UDNI.

-  Functional studies should be performed to substantiate causal relationships between a candidate gene and the phenotype and address novel therapies.