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3 giorni fa · Until now, 15 genetic loci have been reported to be linked with all types of USH. Among reported USH loci, nine are related to be involved in USH1, three in USH2, two in USH3 and one locus in USH4, respectively. Current review has described different types of Usher syndrome and their molecular genetics, and role of usher proteins in sensory organs.
1 giorno fa · The urgent mission of the Foundation Fighting Blindness is to drive the research that will provide preventions, treatments and cures for people affected by retinitis pigmentosa, macular degeneration, Usher syndrome and the entire spectrum of retinal degenerative diseases. The Foundation is a beacon for those affected by these blinding diseases.
3 giorni fa · Il disturbo da deficit di attenzione/iperattività, in acronimo ADHD o DDAI, è un disturbo del neurosviluppo caratterizzato da problematiche nel mantenere l'attenzione, eccessiva attività e/o difficoltà nel controllare il proprio comportamento che non appaiono adeguate all'età della persona. I sintomi appaiono prima dei 12 anni ...
5 giorni fa · A groundbreaking awareness campaign to change the future of Usher syndrome “Every Second Counts” is a call to action and a vivid exploration into the lives of those affected by Usher syndrome, a rare genetic disorder causing the progressive loss of combined deafness and blindness. The campaign underscores the sense of urgency felt by individuals … Continue reading Every Second Counts ...
1 giorno fa · Of the people Usher Kids UK work with, around 60% are families and 40% are professionals. This outreach work with professionals is vital because many services currently do not address the needs of families living with progressive sensory loss, which leads to a lack of engagement from families, which in turn creates a cycle in which services don’t know how to evolve.
2 giorni fa · “Zebrafish provide excellent models to study Usher syndrome because mutations in genes that cause Usher syndrome in humans also produce the same symptoms in zebrafish,” explains Dr. Westerfield. Dr. Westerfield, along with other scientists in the field, use CRISPR, a gene editing technique, to modify the zebrafish genome sequence.
2 giorni fa · La terza edizione della traversata dedica un’attenzione particolare alla solidarietà: infatti l’evento sostiene le attività di RarePartners Onlus con cui si è redatto il Progetto [E]motion, con testimonial il triathleta genovese Alessandro Mennella affetto dalla sindrome di Usher, rara malattia degenerativa che porta alla cecità e alla ...
