Sentences with phrase «of sma»

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The color of the SMA shows its direction.

Thanks to the generosity of Dinaker Singh and Lauren Eng, parents of SMA sufferer Arya Singh, this clinic is poised to become a regional and national leader in the field linked to local and national research programs that offer new hope to families struggling with these disorders.

WHAT: The Departments of Neurology Columbia University and at Columbia Presbyterian Medical Center are celebrating the opening of the SMA (spinal muscular atrophy) Clinic, a center devoted to the treatment and management of a group of diseases that affect motor neurons of the spinal cord and brain stem.

The work of the SMA Foundation has been recognized by the national media including: ABC News, Bloomberg Markets, Forbes, Fox News, The New York Times, Nightline, Parents Magazine, and the Today Show.

Today, the SMA Foundation is the leading funder of SMA research worldwide — over $ 110M has been spent on basic, translational, and clinical research.

In case of SMA, carriers do not show any symptoms of SMA and have one normal copy of SMN1 gene and one mutated, or defective, copy.

SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.

Loren Eng, Co-Founder and President of the SMA Foundation, said, «Columbia University was an obvious place to launch this effort given the institution's leadership position in neuroscience and neurology.

«We are encouraged by the preclinical data emerging on SRK - 015, including the effects upon fast - twitch muscle fibers that are particularly relevant for SMA as well as its selectivity profile, which may be very important when considering chronic therapy in children,» said Karen S. Chen, PhD, Chief Scientific Officer of the SMA Foundation and a co-author of the study being presented at the Cure SMA Annual Conference.

Scholar Rock plans to develop SRK - 015 both in combination with therapies aimed at correcting the underlying genetic defect and as monotherapy in certain subpopulations of SMA patients.

For example the incidence of SMA births is approximately 1 in 6,000 — 10,000 babies.

Currently, new classes of SMA - specific compounds have been identified.

Muscle weakness is the most common and prominent feature of SMA, leaving many patients suffering from difficulty in performing many basic motor functions.

It is hoped that one more of these drugs candidates will significantly reduce the devastating effects of SMA in patients.

Scholar Rock plans to develop SRK - 015 both in combination with therapies aimed at correcting the underlying genetic defect in SMA and as monotherapy in patients with certain subtypes of SMA.

Children of SMA carriers have 25 % chance of inheriting 2 defective copies of SMN1 and have the disease.

«In addition to the SUNFISH study, we are excited to initiate FIREFISH to investigate RG7916 in infants that have the more severe form of SMA,» said Stuart W. Peltz, Ph.D., Chief Executive Officer of PTC Therapeutics.

Treatment with SRK - 015 resulted in significantly increased muscle strength in a genetic model of SMA

But for people with type 2 or type 3 SMA, «the reality is that any sort of treatment would be a blessing,» says Jill Jarecki, research director of Families of SMA who, in a previous job, led the small - molecule screening effort that yielded RG3039, the Repligen compound.

A selection of recent articles in the field of SMA is provided below.

Although the genetic cause of SMA is well understood, the identification of an effective drug that will halt or improve the disease process has not occurred,» said Richard Finkel, M.D., chief, division of neurology, Nemours Children's Hospital, Orlando, Florida.

Through studying these genes, the researchers discovered Stasimon, a novel gene critical for motor circuit activity in fly and zebrafish models of SMA.

Isis is currently in collaboration with Biogen Idec (NASDAQ: BIIB) to develop and potentially commercialize the investigational compound ISIS - SMNRx to treat all types of SMA.

AVXS ‐ 101 is designed to address the monogenetic root cause of SMA and prevent further muscle degeneration by addressing the defective and / or loss of the primary SMN gene.

Victims of SMA lose muscle control and strength, leading to a progressive inability to walk, stand, sit up, move and --- eventually --- breathe.

The reason kids like Arya live at all is that humans have a slightly defective cousin of the SMA gene that produces only enough nourishing protein to keep patients alive for a while.

«The findings of this preclinical study contribute significantly to our understanding of SMA and provide further evidence suggesting that our strategy to upregulate SMN with small molecules could be effective,» said Loren Eng, President of the SMA Foundation.

Dr. Kothary also presented his own lab's unpublished data from a novel mild mouse model of SMA.

«This has been a very important collaborative effort to help parents and families understand and use the Consensus Statement in their everyday lives,» said Cynthia Joyce, Executive Director of the SMA Foundation.

Given the number of phenotypes observed in peripheral tissues, Dr. Darras concluded that thinking of SMA as a disease solely of motor neurons is an oversimplification.

A separate $ 13 million nonprofit drug discovery program, this time funded by Families of SMA, an Illinois - based research and advocacy organization, yielded the compound being advanced by Repligen, a small biotech located in Waltham, Massachusetts.

For example, by using histone deacetylase (HDAC) inhibitors, which, by remodeling chromatin structure, are thought to promote gene expression broadly, including for SMN2, numerous groups showed that they could increase SMN protein levels — both truncated and full - length — in mouse models of SMA as well as in patient - derived cell lines.

The most severe form of SMA is Type 1, which accounts for approximately 60 percent of cases at birth, results in an inability to sit without support, difficulty in breathing and swallowing.

Furthermore, SMN deficiency disrupts Stasimon expression in the neurons of the sensory - motor circuit in a mouse model of SMA.

German neurologists first described the most severe form of SMA in 1891, in which babies never become strong enough to sit up.

For a complete listing of SMA research articles, please visit PubMed.

The article examines the onset of motor neuron loss in a mouse model of SMA and sheds light on the pathophysiological mechanisms of motor neuron degeneration.

The most severe form of SMA is Type 1, a lethal genetic disorder characterized by motor neuron loss and associated muscle deterioration, which results in mortality or the need for permanent ventilation support before the age of two for greater than 90 percent of patients.

Work from his lab shows a vascular depletion in the muscle of both SMA mouse models and patients.

Ying Qian next moderated a discussion with members of the SMA Foundation Patient Advisory Board and representatives from several SMA patient advocacy groups in order to hear patients» perspective on SMA as a whole body disease.

said Karen S. Chen, Ph.D., Chief Scientific Officer and Chief Operating Officer of the SMA Foundation.

The SMA - MAP panel is designed to evaluate the severity of SMA and disease progression and can be used to assess drug efficacy and shorten the duration of clinical trials for SMA therapeutics.

The meeting focused on evidence from preclinical models and patients that indicate SMN has a role outside of the CNS and the implications of these data for systemic treatment of SMA.

This project is supported by the Patient Advisory Group of the International Coordinating Committee for SMA Clinical Trials which includes: Families of SMA, Fight SMA, Muscular Dystrophy Association, SMA Foundation, and other SMA advocacy groups.

As will be reported at the upcoming FSMA - sponsored 11th Annual International SMA Group Meeting in June, our compounds prolong survival in mouse models of SMA and are very effective at crossing the blood brain barrier to reach motor neurons in the spinal cord.

The goal of this study is to identify a potential biomarker or panel of biomarkers that can be used as objective measures of SMA disease severity.

1) Confirming the diagnosis of SMA 2) Managing breathing 3) Managing eating and nutrition 4) Managing movement and daily activities 5) Preparing for illness

The results provide a better understanding of SMA pathogenesis and inform on SMA therapeutic development strategies.

The same compounds also have therapeutic benefit in a mouse model of a severe form of SMA.