Undiagnosed new ultra-rare illness that may cause skeletal deformities, brain atrophy, and microcephaly in extreme instances was discovered in Italy. Researchers at Bambino Gesù Children's Hospital found it as part of a multicenter study involving five kids from three countries (Italy, France and the United States). Researchers discovered the roots of the illness in ARF gene abnormalities and studied their influence on embryonic development using an experimental zebrafish model. The research included five patients recruited at a multicenter level and was supported by the Bambino Gesù Foundation's "Pazienti senza Diagnosi” initiative (“Patients without Diagnosis”, in English), the Ministry of Health, and the Ministry of University and Research.
|