iGenCO
In-Depth Genomics and Cross-Omics Analysis for Undiagnosed Rare Diseases on a User-Friendly Collaborative Platform
- Duration
- 01/01/2021 - 31/12/2023
- Coordinator
- Juan R. González (ISGlobal) / Sergi Beltran (CNAG-CRG)
- Funded by
- La Marató TV3
The iGenCo project aims to discover novel causative genes and enable the diagnosis of rare disease patients. The efforts will build on the Undiagnosed Rare Disease Program of Catalonia (URD-Cat) project and platform, in collaboration with many hospital research groups in Catalonia.
Juan R. González, head of the Bioinformatics Research Group in Epidemiology, and Sergi Beltran, Head of Bioinformatics Unit and the Data Analysis Team at the CNAG-CRG, work on developing innovative solutions to facilitate in-depth genomic and cross-omics analysis of molecularly undiagnosed rare disease patients.
Total Funding
300,000 €
Related Publications
- Gemma Bullich; Leslie Matalonga; Montserrat Pujadas; Anastasios Papakonstantinou; Davide Piscia; Raúl Tonda; Rafael Artuch; Pia Gallano; Glòria Garrabou; Juan R. González; Daniel Grinberg; Míriam Guitart; Steven Laurie; Conxi Lázaro; Cristina Luengo; Ramon Martí; Montserrat Milà; David Ovelleiro; Genís Parra; Aurora Pujol; Eduardo Tizzano; Alfons Macaya; Francesc Palau; Antònia Ribes; Luis A. Pérez-Jurado; Sergi Beltran; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. The Journal of Molecular Diagnostics Volume 24, Issue 5, May 2022, Pages 529-542. https://doi.org/10.1016/j.jmoldx.2022.02.003
Related Multimedia
- El big data ajuda a posar fi a "l'odissea del diagnòstic" de les malalties minoritàries (324.cat, 12/05/2022)
Our Team
Coordinator (ISGlobal)
-
Juan Ramón González Ruiz
ISGlobal Team
-
Leire Abarrategui
-
Xavier Escribà Bioinformatician
Other projects
See Past ProjectsMCC-Spain
Population based multicasecontrol study on common tumours in Spain
INMA - Environment and Childhood Project
HELIX
Novel tools for integrating early-life environmental exposures and child health across Europe
EGG/EAGLE
Early Genetics Growth/Early Genetics and Lifecourse Epidemiology
PACE
Pregnancy and Childhood Epigenetics
LIFECYCLE
Early-life stressors and LifeCycle health
OMEGA-NET
Network on the Coordination and Harmonisation of European Occupational Cohorts
BiSC (Barcelona Life Study Cohort)
HARMONIC
Health effects of cArdiac fluoRoscopy and mOdern radIotherapy in paediatriCs
Mobilise-D
Connecting digital mobility assessment to clinical outcomes for regulatory and clinical endorsement
EARLY-ADAPT
Signs of Early Adaptation to Climate Change
COVICAT
Cohorte Covid-19 en Cataluña
ATHLETE
Advancing Tools for Human Early Lifecourse Exposome Research and Translation
CONTENT
Cohort of COVID-19 in Spain: social dynamics, mental health and inequalities
EUCAN-Connect
A federated FAIR platform enabling large-scale analysis of high-value cohort data connecting Europe and Canada in personalized health
OBERON
An integrative strategy of testing systems for identification of EDs related to metabolic disorders
EXPANSE
EXposome Powered tools for healthy living in urbAN SEttings
AURORA 2021
Actionable eUropean ROadmap for early-life health Risk Assessment of micro- and nanoplastics
ONES
Fine Particle Matter, Fetal Growth, and Neurodevelopment: Examining Critical Windows of Susceptibility
AIR-NB
Pre-natal exposure to urban AIR pollution and pre- and post-Natal Brain development
El impacto de la exposición al metaboloma de esteroides materno-fetales en el crecimiento infantil y los resultados neurológicos (IGRO)
Project Code: PI21/01269
NutinBrain
The role of seafood and nut consumption on human neurodevelopment from pregnancy to adolescence
ALTER - Contaminación del aire, microbiota intestinal y neurodesarrollo en los primeros 24 meses de vida
Project Code: PI21/01278
Alimentación S2: por una dieta saludable y sostenible
Estudio sobre la exposición a nano y microplásticos a través del agua de consumo de Barcelona
¿Es mejor consumir el agua de grifo si queremos reducir la exposición a nano/micropláticos?
UrbanKids
Urban and social environment and childhood obesity – a natural moving2health experiment
Urban Health Citizen Lab
Urban planning, environment and health
Characterizing Oral Exposure to Nanoplastics and Microplastics
Characterization of Oral NMP Exposure
5G expOsure, causaL effects, and rIsk perception through citizen engAgemenT
GOLIAT
CityExposomeCat
An Exposome Approach to Urban Health: Individualized Environmental Exposure Assessment in an Adults Population Cohort Study (GCAT)
TwinAir
Digital Twins Enabled Indoor Air Quality Management for Healthy Living
Subclinical Infections in Children and Long Term Health Effects
Infection acquisition in early life and health outcomes in childhood - MARATO TV3
UBDPOLICY
The Urban Burden of Disease Estimation for POLICY Making
Exposición prenatal a sustancias poli y perfluoradas en agua de consumo y neurodesarrollo en el inicio de la vida
Project Code: PI20/00829
Base genética materna y fetal de la función placentaria
Project Code: PI20/01116
TOLIFE
Combining Artificial Intelligence and smart sensing TOward better management and improved quality of LIFE in chronic obstructive pulmonary disease
BWater
Drinking Water in Barcelona: Sustainability and Health Impact Assessment
CUPID
intoDBP
Innovative Tools to Control Organic Matter and Disinfection Byproducts in Drinking Water
FINDOOR
FTIR spectroscopy for real-time detection of bacterial outbreaks and the rapid identification of pathogenic serotypes, relapsing infections and antibiotic resistance
OccRF-Health
Occupational exposure to radiofrequency electromagnetic fields: From exposure assessment to study of health in workers and their offspring
EPHOR
Exposome Project for Health and Occupational Research
EXPONIT
Analysing and studying how night shift work affects workers' circadian rhythms and health
IHEN
International Human Exposome Network
El microbioma intestinal y la disrupción circadiana
Un estudio epidemiológico molecular sobre enfermedades cardiometabólicas y salud mental
B-Triage
Una prueba en el punto de atención para la estratificación del riesgo de los pacientes febriles basada en los niveles de sTREM-1
e-QuoL
e-health tools to promote Equality in Quality of Life for childhood to young adulthood cancer patients, survivors and their families
AM-MENTAL
What happens with your mental health when your supervisor is an algorithm?