CORDIS Project
Funding breakdown and partner intelligence are Premium
Sign in and upgrade to Premium for EU contribution totals, consortium analytics, OpenAlex research context, and AI summaries. · 0 consortium intelligence fields visible of 1
Start free • Cancel anytime • 14-day refund guarantee
This project aims to enhance the diagnosis of inherited diseases by developing advanced sequencing technologies for gene analysis. It focuses on primary immunodeficiencies and seeks to create more efficient methods for identifying genetic mutations, ultimately improving patient care.
Molecular techniques have become more efficient, increasingly precise and much cheaper, resulting in an unprecedented discovery rate of inherited disease genes.
In areas such as primary immunodeficiencies (PID), muscle disorders, growth deficiencies, hearing/vision impairments and metabolic diseases, very large numbers of different genes have been found to carry mutations in diseases with heterogeneous clinical presentation.
For example, mutations in almost 150 genes have been found to cause PID…
KAROLINSKA INSTITUTET
Partner organizations (coordinator is shown above), with normalized type and CORDIS activity type. Guests see up to 4 partners.
LONDON
Type: University / higher education
Activity type: Higher or Secondary Education Establishments
SME: No
EUROFINS GENOMICS EUROPE PHARMA AND DIAGNOSTICS PRODUCTS & SERVICES SANGER PCR GMBH
Germany, Konstanz
Type: SME
Activity type: Private for-profit entities (excluding Higher or Secondary Education Establishments)
SME: Yes
INSTYTUT POMNIK CENTRUM ZDROWIA DZIECKA
Poland, Warszawa
Type: Research institute
Activity type: Research Organisations
SME: No
Sweden, Uppsala
Type: University / higher education
Activity type: Higher or Secondary Education Establishments
SME: No
Similar projects, consortium collaboration history, frequent partners, and OpenAlex research context.
Guests see up to 5 EuroSciVoc fields.
Guests see up to 5 topics.
Guests see up to 5 sectors.
