It Just Makes “Antisense:” Using Genetic Medicine to Treat Rare Diseases
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It Just Makes “Antisense:” Using Genetic Medicine to Treat Rare Diseases

  As previously published in Scientific American, slightly after her first birthday, Emma Larson lost the use of her legs and started experiencing difficulty crawling. She was diagnosed with spinal muscular…

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Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases
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Faulty Proteins and Failed Genes: Understanding the Biology Behind Congenital Diseases

Patients with congenital diseases often experience a range of uncomfortable symptoms. On one side of the world, a family with erythromelalgia, a painful condition which can cause redness and swelling…

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Mom of Seven Year Old with Duchenne Muscular Dystrophy Speaks at Recent Festival of Genomics
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Mom of Seven Year Old with Duchenne Muscular Dystrophy Speaks at Recent Festival of Genomics

  Shelley Simmonds recently attended the Festival of Genomics, the largest genomics event in the United Kingdom that is quickly growing into the biggest event in the world. It involves…

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Neurodegenerative-Neuromuscular Diseases and Airway Clearance Therapy
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Neurodegenerative-Neuromuscular Diseases and Airway Clearance Therapy

  Advances in medicine have been responsible for longer overall survival in patients with neurodegenerative-neuromuscular diseases. According to a recent report in RTMagazine, an increase in the number of patients…

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The FDA is Developing, Approving, and Expediting Exciting New Therapies
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The FDA is Developing, Approving, and Expediting Exciting New Therapies

  Janet Woodcock, Director of the FDA’s Center for Drug Evaluation and Research (CDER) recently gave an interview to the publication FDA Voices about the agency’s approval in 2019 of a…

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AskFirst: A New Collaborative Program to Support Rare Disease Patients in Gene Therapy Clinical Trials
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AskFirst: A New Collaborative Program to Support Rare Disease Patients in Gene Therapy Clinical Trials

AskBio Asklepios BioPharmaceuticals (AskBio) was first founded in 2001. It is based out of North Carolina.  This company is dedicated to the research of gene therapies as potential therapeutic options…

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The Muscular Dystrophy Association Steps up for Rare Neuromuscular Diseases
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The Muscular Dystrophy Association Steps up for Rare Neuromuscular Diseases

According to a story from Charcot-Marie-Tooth News, the Muscular Dystrophy Association (MDA) may at first seem like a group that is solely focused on helping muscular dystrophy patients, but its…

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Does the ‘Quality Adjusted Life Year’ Measure Leave Behind Rare Disease Patients?
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Does the ‘Quality Adjusted Life Year’ Measure Leave Behind Rare Disease Patients?

According to a story from Salon, the Quality Adjusted Life Year (QALY) is a statistical measure that is used in order to calculate the value of a certain medication. First…

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With Post-Brexit Move to Amsterdam Complete, EMA Renews Rare Disease Focus

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two…

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Translarna Results in a Preserved Ability to Walk in Those with Duchenne Muscular Dystrophy
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Translarna Results in a Preserved Ability to Walk in Those with Duchenne Muscular Dystrophy

PTC Therapeutics is a pharmaceutical company that has been working with Translarna, a medication intended for the treatment of Duchenne muscular dystrophy (DMD). They analyzed this treatment and presented the…

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Treatment for Duchenne Muscular Dystrophy with Rare Mutations Accepted Under Accelerated Approval
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Treatment for Duchenne Muscular Dystrophy with Rare Mutations Accepted Under Accelerated Approval

According to a story from BioSpace, the US Food and Drug Administration (FDA) has recently approved the drug golodirsen (marketed as Vyondys 53) as a treatment for Duchenne muscular dystrophy…

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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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Two Nonprofits Award $200,000 Grant for Development of Duchenne Muscular Dystrophy Patient Reported Outcomes
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Two Nonprofits Award $200,000 Grant for Development of Duchenne Muscular Dystrophy Patient Reported Outcomes

According to a story from PR Newswire, the nonprofit groups Duchenne UK and Parent Project Muscular Dystrophy (PPMD) have jointly awarded grant funding to the tune of $200,000 to Dr.…

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Study Analyzes New Outcome Measure for Duchenne Muscular Dystrophy
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Study Analyzes New Outcome Measure for Duchenne Muscular Dystrophy

According to a story from BioSpace, a global collaborative called the Trajectory Analysis Project recently released a study that utilized the North Star Ambulatory Assessment (NSAA), a recently developed measurement…

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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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Steadman Philippon Research Institute Receives Award for Duchenne Muscular Dystrophy Research

According to a story from Financial Buzz, the Steadman Philippon Research Institute (SPRI) recently received an award in research from the National Institutes of Health (NIH). The award is in…

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Advocates for Duchenne Muscular Dystrophy Start Company Designed to Collect Data Directly From Patients
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Advocates for Duchenne Muscular Dystrophy Start Company Designed to Collect Data Directly From Patients

According to a story from Xconomy, the US Food and Drug Administration (FDA) made a controversial decision three years ago when it approved the drug eteplirsen as a treatment for…

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First Patient Dosed in Phase 3 Study of Experimental Idiopathic Pulmonary Fibrosis Drug
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First Patient Dosed in Phase 3 Study of Experimental Idiopathic Pulmonary Fibrosis Drug

According to a press release from the San Francisco-based FibroGen, Inc., the first patient has been dosed in the Company's phase 3 clinical study of the experimental drug pamrevlumab for…

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Early Data Released From Phase 1B Duchenne Muscular Dystrophy Gene Therapy Trial
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Early Data Released From Phase 1B Duchenne Muscular Dystrophy Gene Therapy Trial

According to a story from BioPortfolio, the drug company Pfizer has recently presented data from its phase 1b clinical trial that tested the company's experimental gene therapy PF-06939926, which is…

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Duchenne Muscular Dystrophy and The Heart: Five Facts You Should Know
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Duchenne Muscular Dystrophy and The Heart: Five Facts You Should Know

According to a story from blog.cincinnatichildrens.org, a diagnosis of Duchenne muscular dystrophy is always an alarming piece of news; learning that your child has a progressive muscle atrophy disorder that…

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