A New Pediatric Precision Medicine Center is Opening in Utah
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A New Pediatric Precision Medicine Center is Opening in Utah

A new precision medicine center, specifically for pediatrics, has launched in Utah. This new center is the result of collaborative efforts from the Intermountain Primary Children's Hospital, Intermountain Precision Genomics,…

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Preliminary Findings From Spinal Muscular Atrophy Trial Recently Announced
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Preliminary Findings From Spinal Muscular Atrophy Trial Recently Announced

According to a story from gurufocus.com, the biopharmaceutical company Scholar Rock has recently announced the release of preliminary results from a phase 2 clinical trial. This clinical trial is testing…

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Queensland Family Calls for Spinal Muscular Atrophy Newborn Screening After Their Daughter was Diagnosed
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Queensland Family Calls for Spinal Muscular Atrophy Newborn Screening After Their Daughter was Diagnosed

According to a story from abc.net.au, parents Kellee and Jamie Clarkson of Queensland, Australia are calling for the implementation of newborn screening in the state for the rare disorder spinal…

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Data Indicates That Gene Therapy for Spinal Muscular Atrophy Could be Useful for Older Patients

According to a story from MedCity News, interim data from a phase 1/2 clinical trial testing Zolgensma, a gene therapy for spinal muscular atrophy, in patients between the ages of…

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Personalized Medicine: A Drug Tailored for a Six Year Old With Batten Disease May Serve as a Template for Similar Rare Disorders

  Mila Makovec began her life as a normal, healthy infant, and according to a recent article in Science Magazine, she continued along this path until reaching the age of…

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Clinical Trials Show Promising Results for Risdiplam in Treatment of Spinal Muscular Atrophy Types 1, 2, and 3

According to a recent article in SMA News Today, risdiplam (formerly RG7916)  is in ongoing studies of patients with spinal muscular atrophy (SMA). The drug is an investigational medicine developed by Genentech…

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New Data Highlights Zolgensma’s Benefits for Spinal Muscular Atrophy Patients
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New Data Highlights Zolgensma’s Benefits for Spinal Muscular Atrophy Patients

According to a story from finanznachrichten.de, the latest data from three phase 3 studies is giving further confirmation to the capability of the recently approved gene therapy Zolgensma to have…

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This Doctor’s Life Changed Forever When His Son Was Born With Spinal Muscular Atrophy
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This Doctor’s Life Changed Forever When His Son Was Born With Spinal Muscular Atrophy

According to a story from medicalxpress.com, Dr. Nathan Hoot is an emergency medical physician, but his role as a doctor doesn't entirely end when he leaves the hospital because his…

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A New European Consortium Dedicated to Finding and Treating Rare Diseases

A molecular biologist, Dr. Daria Julkowska, coordinates an international consortium in Paris that is largely funded through the 28-member European Union (EU). According to a report published in the Charcot-Marie-Tooth…

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FDA Approval Was Granted For a Duchenne Muscular Dystrophy Drug Amid Internal Disagreements

  The accelerated approval granted by the FDA for the Duchenne muscular dystrophy drug eteplirsen, developed by Sarepta Therapeutics, was granted only after internal disagreements and protests had been resolved.…

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Biohacking: A Small Group of Amateur Biologists Are Hoping to Market Their Knockoff of a One Million Dollar Gene Therapy

  According to a recent article in Archive Today, an international band of amateur biologists, or "biohackers" announced that they intend to eventually market a knock-off of Glybera, a one…

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The Power of Collective Action in Providing Insurance Coverage for Spinal Muscular Atrophy Gene Therapy

Maisie Green Maisie Green is a 20-month-old little girl whose insurance has finally approved coverage for a life-altering spinal muscular atrophy treatment. Two weeks ago she received the singular infusion…

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After Being Part of a Crucial Spinal Muscular Atrophy Trial, a Family’s Future Remains Uncertain

According to a story from Palo Alto Online, it was only a few months into the life of Aleksandr Kostanyan when parents Svetlana Sargsyan and Tigran Kostanyan realized that something…

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University of Missouri Dean Awarded $1 Million in Grants for Spinal Muscular Atrophy Research

According to a story from Mizzou News, Chris Lorson, who is the associate dean for Research and Graduate Studies at the school's College of Veterinary Medicine, recently earned four grants…

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Come On Pharma: It’s Not That Much of a Sacrifice to Study One Rare Disease Pro-Bono

At the heart of rare disease treatments is research. Currently, 95% of all rare diseases still have no approved therapies. Although there has been an increased focus on rare diseases…

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The FDA Will Allow the Most Expensive Therapy in the World to Remain on the Market

The headline in a recent Washington Post article declared that the FDA claimed Novartis, through its newly-acquired company AveXis, manipulated data in an application for a gene therapy drug. These…

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Making History: First Patient in Connecticut Receives Spinal Muscular Atrophy Gene Therapy

According to a story from Connecticut Children's, the hospital is one of the very first in the country to administer Zolgensma, a recently approved gene therapy for the rare genetic…

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