Finding biomarkers that capture neuroinflammation is critical to the continued use of gene therapies carried on an adeno-associated virus (AAV) as a transport agent, according to a recent review. AAV-based gene therapies are of growing importance to treating neurodegenerative and neuromuscular disorders like spinal muscular atrophy (SMA).
Preforming an imaging scan that uses less radiation can be used to plan the administration of Spinraza (nusinersen) in people with spinal muscular atrophy (SMA), without sacrificing confidence in treatment planning, a study shows. The study, “Radiation dose reduction for CT-guided intrathecal nusinersen administration in adult…
In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
Thermo Fisher Scientific introduced a new test it says will allow reproductive health researchers to efficiently screen 420 genes for markers of several disorders, including spinal muscular atrophy (SMA). The new approach combines several stand-alone tests into a single assay. There are several different tests available for diagnosing…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
A gene called synaptotagmin 13 (SYT13) can prolong the lifespan and prevent the destruction of motor neurons in mouse models of amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), according to a study. The study, “Synaptotagmin 13 is neuroprotective across motor neuron diseases,”…
Meeting its goal in less than half the time, the Clinic for Special Children (CSC) in Pennsylvania Dutch Country has completed its program to identify spinal muscular atrophy (SMA) carriers among Amish and Mennonite communities across 15 states. The nonprofit CSC conducted 2,177 tests in 15 months,…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those looking to begin the complex process in its Feb. 20 webinar. William Whitman,…
Loss of survival motor neuron (SMN) protein in muscles may contribute directly to the development of spinal muscular atrophy (SMA), in addition to its lack in motor neurons, an early study in mice suggested. Lowering SMN levels solely in muscle was seen to be enough to cause SMA-like symptoms…
The Institute for Gene Therapies (IGT) has launched, with the aim of maximizing the potential of gene therapies in genetic disorders such as spinal muscular atrophy (SMA). Comprised of industry leaders, scientists, and patient advocates, the IGT’s overarching goal is to set the foundation for a modernized…
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