A UConn Health Team Administers the World’s First Gene Therapy for Glycogen Storage Disease Type-1a

In January of this year, a University of Connecticut (UConn) team administered the world’s first infusion of a new gene therapy as part of a long-awaited clinical trial. According to…

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The Nanopore Sequencing Test Reduces Diagnosis From Decades to Days for Multiple Rare Disorders

Researchers from Australia’s Garvan Institute have joined with collaborators in Israel and the UK in identifying neuromuscular and neurological genetic diseases that have been difficult to diagnose due to the…

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Young Adults Diagnosed with Late-Stage Colorectal Cancer at Rising Rates
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Young Adults Diagnosed with Late-Stage Colorectal Cancer at Rising Rates

In the past, some research has suggested that earlier screening for colorectal cancer – also known as rectal or colon cancer – could be beneficial for improving patient outcomes. For…

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New Test Quickly Identifies CSF Leak
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New Test Quickly Identifies CSF Leak

What do MRIs of the head and spine, CT scans of the head with contrast dye, CT myelograms of the spine, and radioisotope tests all have in common? These are…

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Two ALS Studies May Unravel its Genetic Roots and Solve One of its Mysteries
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Two ALS Studies May Unravel its Genetic Roots and Solve One of its Mysteries

Scientists at London’s University College and a team of scientists at Stanford University simultaneously made the same discovery about amyotrophic lateral sclerosis (ALS): the genetic variant in the protein UNC13A…

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