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2 articles from the last 30 days matching "italy"

ResearchPUBMEDYesterday

Aging and rare diseases: from epidemiology to a call to action.

Researchers in Italy studied how rare diseases affect older adults. They found that thousands of people are diagnosed with rare diseases after age 65, and thousands more who were diagnosed as children or young adults are now living into old age with these conditions. This study shows that rare diseases in elderly people are becoming more common and important to understand.

WHY IT MATTERSIf you or a family member has a rare disease and are aging, this research highlights that healthcare systems need better plans to care for older patients with rare conditions—which could lead to improved treatment strategies and support services tailored to your needs.
Good to knowRead →
ResearchPUBMEDApr 1

Advancing Neuropediatric Rare Disease Diagnosis Through Clinical Genome Sequencing.

Researchers in Italy tested a new way to diagnose rare genetic diseases in children using whole genome sequencing—a test that reads all of a person's genetic code. Between 2018 and 2022, they studied 64 children with complex neurological problems that doctors couldn't figure out. This study shows whether this genetic test could help find answers faster for kids with mysterious rare diseases.

WHY IT MATTERSIf your child has unexplained neurological symptoms and multiple doctors haven't found a diagnosis, this research demonstrates that whole genome sequencing through healthcare systems may finally provide answers—potentially ending years of diagnostic uncertainty.
💬 Ask your doctorrare genetic neuropediatric diseasesundiagnosed genetic disorders in childrenmonogenic neurological diseasesRead →

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