SMN1 Gene News and Research

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Using Whole Exome Sequencing and Carrier Screening Tests for Birth Defects

In this interview, NewsMedical speaks with Rainu Wau from International Maternal and Children’s Hospital, Shanghai, China, about her experience using whole exome sequencing and carrier screening tests.

From BGI Genomics 8 Dec 2022

Study examines safety and early outcomes of gene therapy for spinal muscular atrophy

In May 2019, the U.S. Food and Drug Administration approved a gene replacement therapy for the inherited, progressive neuromuscular disease 5q-linked spinal muscular atrophy.

25 Aug 2020

Adult SMA patients treated with Nusinersen show improvement in motor function

A study published in the Journal of Neuromuscular Diseases presents the first evidence of mild improvement or stabilization of motor and respiratory function in adults with spinal muscular atrophy type 3 (SMA3) treated with Nusinersen, which was the case even in patients who have had the disease for 20 years or more.

11 Nov 2019

Study findings highlight importance of early detection of SMA through newborn screening

Spinal muscular atrophy is a genetic disease that affects motor neurons in the spinal cord, resulting in muscle atrophy and widespread weakness that eventually impair swallowing and breathing.

17 Jul 2018

Investigational drug may help increase protein levels in babies with spinal muscular atrophy

A preliminary study suggests that an investigational drug may help increase protein levels in babies with spinal muscular atrophy. The open-label study is released today and will be presented at the American Academy of Neurology's 70th Annual Meeting in Los Angeles, April 21 to 27, 2018.

19 Apr 2018

Johns Hopkins researchers identify new biological target for treating spinal muscular atrophy

Johns Hopkins researchers along with academic and drug industry investigators say they have identified a new biological target for treating spinal muscular atrophy.

9 Jan 2017

Promising new therapeutic target could lead to better prognosis of spinal muscular atrophy

According to studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time.

25 Jul 2016

Positive data from two studies analyzing Good Start's test for inherited diseases presented at ACOG 2015

Good Start Genetics, Inc., a commercial-stage molecular genetics information company, today presented data from two studies analyzing detection rates among patients at in vitro fertilization (IVF) clinics who underwent carrier screening for inherited diseases. The studies were presented at the 2015 Annual Clinical and Scientific Meeting of The American College of Obstetricians and Gynecologists being held in San Francisco, Calif.

7 May 2015

MU researchers make new breakthrough in spinal muscular atrophy drug

According to recent studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time.

16 Sep 2014

Study: Sufficient copies of SMN1 gene extend survival in animals with spinal muscular atrophy

To make up for insufficient amounts of SMN protein, the cause of the inherited neuromuscular disease spinal muscular atrophy (SMA), researchers have successfully delivered a replacement SMN1 gene directly to the spinal cords of animal models of SMA.

23 May 2014

Joint research program in SMA enters initial stage of clinical development

PTC Therapeutics, Inc., the SMA Foundation, and Roche, announced today that their joint research program in Spinal Muscular Atrophy has entered the first stage of clinical development aiming to assess safety and tolerability of an oral compound in healthy volunteers.

22 Jan 2014

Research Institute receives Fast Track status for its gene therapy product for treatment of SMA

AveXis and BioLife, synthetic biology platform companies, today announced that The Research Institute at Nationwide Children's Hospital received Fast Track designation from the U.S. Food and Drug Administration for its scAAV9.CB.SMN gene therapy product for the treatment of spinal muscular atrophy (SMA).

19 Oct 2013

Researchers develop TSUNAMI method to create animal model of adult-onset version of SMA

A research team at Cold Spring Harbor Laboratory has used a recently developed technology they call TSUNAMI to create the first animal model of the adult-onset version of spinal muscular atrophy, a devastating motor-neuron illness.

10 Sep 2013

Two CUMC studies provide new insights into spinal muscular atrophy

A study by scientists from the Motor Neuron Center at Columbia University Medical Center (CUMC) suggests that spinal muscular atrophy (SMA), a genetic neuromuscular disease in infants and children, results primarily from motor circuit dysfunction, not motor neuron or muscle cell dysfunction, as is commonly thought.

12 Oct 2012

Investigators discover biological explanation for why low levels of oxygen advance SMA symptoms

Investigators at Nationwide Children's Hospital may have discovered a biological explanation for why low levels of oxygen advance spinal muscular atrophy (SMA) symptoms and why breathing treatments help SMA patients live longer. The findings appear in Human Molecular Genetics.

22 Aug 2012

PTC, Roche announce licensing agreement for SMA programme

Roche, PTC Therapeutics, Inc. and the SMA Foundation, announced today a licensing agreement for PTC's Spinal Muscular Atrophy (SMA) programme.

30 Nov 2011

Repligen receives approval from FDA to commence RG3039 Phase 1 trial in Spinal Muscular Atrophy

Repligen Corporation announced today that it has received approval from the Food and Drug Administration to initiate a Phase 1 clinical trial of RG3039, a potential treatment for Spinal Muscular Atrophy.

19 May 2011

Enzo Life Sciences introduces ELISA system to detect SMN protein

Enzo Biochem, Inc. and the Spinal Muscular Atrophy Foundation today announced that Enzo's wholly owned subsidiary, Enzo Life Sciences Inc., has launched a unique immunoassay system which can be used for the identification and detection of Survival Motor Neuron protein.

16 Mar 2011

Repligen third quarter total revenue increases 26% to $7,068,000

Repligen Corporation today reported results for the third quarter of fiscal year 2011, ended December 31, 2010. Total revenue for the quarter was $7,068,000 compared to total revenue of $5,617,000 for the third quarter of fiscal year 2010 ended December 31, 2009, an increase of $1,451,000 or 26%.

9 Feb 2011

Cedars-Sinai receives California Institute grant to develop new technique for specific diseases

A team of scientists from the Cedars-Sinai Regenerative Medicine Institute has been awarded a $1.9 million grant from the California Institute for Regenerative Medicine to fund development of a new technique to aid pharmaceutical discoveries for specific diseases.

3 Feb 2011