THE 5-YEAR EU PROJECT SCREEN4CARE ON GENETIC NEWBORN SCREENING – SELECTION OF TREATABLE DISEASES

Elenco Abstract

Marianna Farnè

THE 5-YEAR EU PROJECT SCREEN4CARE ON GENETIC NEWBORN SCREENING – SELECTION OF TREATABLE DISEASES

Autori

MARIANNA FARNÈ (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY – GENETICA MEDICA)
FERNANDA FORTUNATO (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY – GENETICA MEDICA)
SILVIA MONTANARI (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY – GENETICA MEDICA)
ALICE MARGUTTI (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY – GENETICA MEDICA)
VITTORIA NAGLIATI (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY – GENETICA MEDICA)
RITA SELVATICI (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY – GENETICA MEDICA)
CHRISTINA SAIER (DEPARTMENT OF NEUROPEDIATRIC AND MUSCLE DISORDERS, MEDICAL CENTER, FACULTY OF MEDICINE, UNIVERSITY OF FREIBURG, FREIBURG, GERMANY – DIETISTICA)
JAN KIRSCHNER (DEPARTMENT OF NEUROPEDIATRIC AND MUSCLE DISORDERS, MEDICAL CENTER, FACULTY OF MEDICINE, UNIVERSITY OF FREIBURG, FREIBURG, GERMANY – NEUROPEDIATRIA)
STEFAAN SANSEN (SANOFI, DIEGEM, BELGIUM – AZIENDA FARMACEUTICA)
SILVIA OTTOMBRINO (LABORATORY OF MEDICAL GENETICS, TRANSLATIONAL CYTOGENOMICS RESEARCH UNIT, BAMBINO GESÙ CHILDREN HOSPITAL IRCCS, ROME, ITALY – GENETICA MEDICA)
EMANUELE AGOLINI (LABORATORY OF MEDICAL GENETICS, TRANSLATIONAL CYTOGENOMICS RESEARCH UNIT, BAMBINO GESÙ CHILDREN HOSPITAL IRCCS, ROME, ITALY – GENETICA MEDICA)
ANTONIO NOVELLI (LABORATORY OF MEDICAL GENETICS, TRANSLATIONAL CYTOGENOMICS RESEARCH UNIT, BAMBINO GESÙ CHILDREN HOSPITAL IRCCS, ROME, ITALY – GENETICA MEDICA)
ENRICO SILVIO BERTINI (UNIT OF NEUROMUSCULAR AND NEURODEGENERATIVE DISORDERS, BAMBINO GESU CHILDREN’S HOSPITAL, IRCCS, ROME, ITALY – NEUROLOGIA)
ALDONA ZYGMUNT (PFIZER INC., COLLEGEVILLE, PENNSYLVANIA, UNITED STATES OF AMERICA – AZIENDA FARMACEUTICA)
ALESSANDRA FERLINI (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY – GENETICA MEDICA)

Presentatore

FERNANDA FORTUNATO (MEDICAL GENETICS, DEPARTMENT OF MEDICAL SCIENCES, UNIVERSITY OF FERRARA, FERRARA, ITALY)

Modalità

Poster Session

Abstract

“Most of the Rare Diseases (RDs), of which about 70% are genetics and have a paediatric onset, still remain globally under-diagnosed. The 5-year EU project Screen4Care (S4C), who receives support from the Horizon 2020 and EFPIA (European Federation of Pharmaceutical Industries and Associations), is a public-private-patient-partnership consortium, co-led by University of Ferrara and Pfizer Inc, scientific coordinator and project leader respectively. S4C proposes a dual research approach to accelerate RDs diagnosis, based on genomic strategies and digital technologies.
S4C goals to explore genetic newborn screening (gNBS) for RDs on dried blood spot, to shorten time to diagnosis and access to treatment. The target is to enrol up to 25,000 newborns in four EU countries, including Italy. gNBS will be carried out using gene panels by next generation sequencing (NGS), whose design will include treatable (TREAT) and actionable (ACT) RDs.
Design of TREAT-panel, based on a system of robust criteria and scoring (including knowledge of the disease, clinical utility, available treatment, and sequencing technology-aspects) has been finalized and selected 245 genes. Likely pathogenic/pathogenic variants in these genes cause genetic disorders with early onset, known natural history and genotype-phenotype correlation, and availability of treatments, including 25 neurological/neuromuscular disorders. Of 245 genes, the majority shows an autosomal recessive (AR) inheritance, others show an autosomal dominant (AD), a mixed AD/AR, and an X-linked (XL) inheritance.
In conclusion, the major S4C aim is to design gNBS pipelines with the final scope to translate gNBS and digital frameworks into the diverse European health systems.”