The First Ever PFIC Network Family Conference will Bring Families Affected by the Disease Together This Week

Emily Ventura has never met in-person another person living with progressive familial intrahepatic cholestasis (PFIC), her daughter’s life-threatening ultra-rare genetic disease. That will change on June 21st when Emily and…

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Researchers Identify New Mutations Linked to Charcot-Marie-Tooth Disease
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Researchers Identify New Mutations Linked to Charcot-Marie-Tooth Disease

According to a story from Charcot-Marie-Tooth News, a team of scientists have successfully identified four new mutations that are capable of causing Charcot-Marie-Tooth disease. These mutations affect the GJB1 gene. These new…

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Experimental Treatment for Hunter Syndrome Earns Rare Pediatric Disease Designation and Orphan Drug Designation

According to a story from globenewswire.com, the biopharmaceutical company Denali Therapeutics, Inc. has recently announced that its experimental product candidate DNL310, which is currently being developed as a treatment for…

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Waldenstrom’s Macroglobulinemia: A Rare Patient Story

On the weekend of June 7th through 9th, I had the privilege of attending the 2019 International Waldenstrom's Macroglobulinemia Foundation's Annual Educational Forum in Philadelphia, Pennsylvania on the behalf of…

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China Approves Mucopolysaccharidosis Type IVA Drug As Part of Accelerated Review Program
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China Approves Mucopolysaccharidosis Type IVA Drug As Part of Accelerated Review Program

According to a publication from BioPortfolio, China's National Medical Products Administration (NMPA — similar to the American FDA) recently approved BioMarin's mucopolysaccharidosis type IVA drug Vimizim for use in the…

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Critical Research Into Amyotrophic Lateral Sclerosis Therapies Gets Funding Boost
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Critical Research Into Amyotrophic Lateral Sclerosis Therapies Gets Funding Boost

According to a story from Alabama News Center, a scientist affiliated with Southern Research, Dr. Rita Cowell, has been hard at work researching new potential treatments for amyotrophic lateral sclerosis,…

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