20 CONTRIBUTE TO THE HEALTH OF ALL FACILITATE ACCESS TO THE DIAGNOSIS OF RARE DISEASES Over 3 million people in France and around 25 million in Europe are affected by one of the 7,000 rare diseases known to date. Only 1 in 2 people with a rare disease has an accurate diagnosis, which is essential for implementing genetic counselling or appropriate treatment and thereby improving patient care. Laboratoire Cerba fights delayed diagnosis through a multidisciplinary approach (specialised biochemistry, genetics, constitutional cytogenetics, genomics, flow cytometry, etc.) and the development of new tests. In order to improve the accuracy of genetic disease diagnosis, the human genetics teams have established a new test at Laboratoire Cerba: a next-generation cytogenetic diagnostic test more commonly known as optical genome mapping. This new technology improves the diagnosis of rare constitutional genetic diseases and complements whole exome sequencing, which has been performed at Cerba since 2016. Furthermore, the teams have since 2021 expanded the use of gene panels in high-throughput sequencing for syndromic approaches, thereby significantly advancing the molecular diagnosis of many human genetic diseases (intellectual deficiency, epilepsy, etc.). Identifying causative variants means that a clinical diagnosis can be made, a genetics consultation can be offered, and sometimes care can be improved by proposing personalised treatment. Following the validation study of the non-invasive diagnostic test for De Vivo disease, conducted in 2021 by Cerba in partnership with METAFORA biosystems and AP-HP, over thirty patients per month have benefited from this new test. Within 48 hours this blood test identifies affected children and adults quickly and easily compared with the diagnostic tests that use an invasive procedure (lumbar puncture) or complex genetic analyses. De Vivo disease, otherwise known as Glut1 deficiency syndrome, is a rare and debilitating neurological disease that is relatively unknown to the medical profession, yet totally manageable with diet if detected early. TOWARDS MORE PUBLIC-PRIVATE PARTNERSHIPS The Cerba HealthCare Group, thanks to the diversity of its expertise and know-how in specialised clinical pathology, is a contact and partner of choice for conducting various research projects and partnerships. In 2022, Cerba HealthCare was a stakeholder in COVIFERON, a project co-conducted with the Imagine Institute and other academic partners, and selected for the fifth call for hospital-university health research proposals (RHU 5) launched in 2021 by the French National Research Agency (ANR) as part of the Investments for the Future Programme (PIA). It aims to better understand the genetic and immunological foundations of the different clinical forms of COVID-19, develop and distribute tests to evaluate the risks of developing a severe form, and propose new preventive and therapeutic approaches – particularly in the context of infectious or autoimmune diseases. Cerba HealthCare participates as a financial partner and via the Cerballiance network has the role of validating and implementing the tests. In 2023, Cerba HealthCare is a stakeholder in three candidate projects for the sixth wave of the RHU.
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