At 49, She Got Her PhD to Help Her Son With Angelman. Now, She Created COMBINEDBrain To Help Many Related Rare Diseases.

As originally reported in Angelman Syndrome News, Terry Jo Bichell is a PhD researcher, former director and scientific officer of the Angelman Biomarkers and Outcomes Measures Alliance and Tennessee's ambassador…

Continue Reading At 49, She Got Her PhD to Help Her Son With Angelman. Now, She Created COMBINEDBrain To Help Many Related Rare Diseases.
These Two Companies Just Announced a Partnership to Develop Multiple Gene Therapies
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These Two Companies Just Announced a Partnership to Develop Multiple Gene Therapies

According to a story from BioSpace, the gene therapy companies Sarepta Therapeutics, Inc. and StrideBio, Inc. have recently announced the completion of a licensing and collaboration agreement that could lead…

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Tickets are on Sale Now for Rare Disease Film Festival in Boston

Are we ready for our close-up? The second annual Selections from DISORDER: The Rare Disease Film Festival at Biotech Week Boston will be held at the Takeda Auditorium in Cambridge,…

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Gene Therapy for 12 Rare Diseases will be Investigated Thanks to this Industry-Academia Partnership

Extended Collaboration  Amicus Therapeutics has just announced that they are expanding their collaboration with the University of Pennsylvania's Perelman School of Medicine for the next five years. This collaboration is…

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Epigenetic Test Developed in UK Could Help Diagnose Genetic Disorders

According to the publication from the London Free Press, a new technique in development at Lawson Health Research Institute uses epigenetics to more closely study genetic expression in humans. Epigenetics…

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New Technology for Diagnosing Rare Conditions by Photograph May Foster Employment Discrimination?

As discussed in a recent article on PatientWorthy the FDNA has recently developed a new kind of algorithm which can diagnose rare genetic conditions such as Angelman syndrome, Williams syndrome, and Fragile X syndrome using…

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First Patient Enrollment Announced for Angelman Syndrome Nutritional Study
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First Patient Enrollment Announced for Angelman Syndrome Nutritional Study

According to a story from BioPortfolio, the keto-medical nutrition company Disruptive Nutrition recently announced that the first patient had been enrolled in a research study which will test a unique…

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Angelman Syndrome Clinic Network is Now International
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Angelman Syndrome Clinic Network is Now International

Angelman Syndrome (AS) is a neurogenetic disorder. It's not fatal, but prevents patients' from living independently. It causes neurological impairment, seizures, and balance issues among other problems. It's caused by a…

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A Recent Study Has Found That Minocycline Doesn’t Benefit People with Angelman Syndrome

The drug minocycline is a tetracycline antibiotic. Previous research using mouse models has indicated that it may have anti-inflammatory and antiapoptotic (prevents cell death) properties and may benefit some neurological…

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With Its Own Disease Code, Angelman Syndrome Will be Easier to Research and Monitor
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With Its Own Disease Code, Angelman Syndrome Will be Easier to Research and Monitor

According to a story from Angelman Syndrome news, Angelman syndrome was recently given its own disease unique disease code: Q93.51. The new code will help make researching and tracking the…

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Angelman Syndrome Treatment Being Developed is Awarded ‘Orphan Drug’ Status in the U.S.
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Angelman Syndrome Treatment Being Developed is Awarded ‘Orphan Drug’ Status in the U.S.

A new drug being developed to treat Angelman syndrome (AS) has just been approved for ‘orphan drug’ status in the U.S., reports GlobeNewswire. The drug, called GTX-101, works by activating the…

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An Experimental Treatment for Fragile X and Angelman Syndromes Gets Fast Track Designation
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An Experimental Treatment for Fragile X and Angelman Syndromes Gets Fast Track Designation

According to a story from pharmiweb.com, the pharmaceutical company Ovid Therapeutics announced recently that the U.S. Food and Drug Administration (FDA) has given its drug candidate OV101 Fast Track designation…

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