National Organization for Rare Disorders’ Living Rare, Living Stronger Patient and Family Forum

The 2020 Living Rare, Living Stronger NORD Patient and Family Forum July 18-20, 2020 Cleveland, OH This yearly conference for patients, their families, and researchers features a comprehensive content program…

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Medication Spinraza Shows Promising Benefits in Pre-Symptomatic SMA Patients
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Medication Spinraza Shows Promising Benefits in Pre-Symptomatic SMA Patients

By Lauren Taylor from In The Cloud Copy Biogen announced new data from the NURTURE trial of pre-symptomatic patients with spinal muscular atrophy (SMA). SMA is a rare, autosomal recessive…

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This Mom is Helping Organize a Fundraiser for Neurofibromatosis in South Dakota
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This Mom is Helping Organize a Fundraiser for Neurofibromatosis in South Dakota

According to a story from keloland.com, Westin Cuka, age six, was first diagnosed with neurofibromatosis, a rare disorder, three years ago. Since then, the family has traveled on multiple occasions…

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Rare Pediatric Disease Designation Awarded to Investigative Therapy for POMC and LEPR Deficiency Obesities
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Rare Pediatric Disease Designation Awarded to Investigative Therapy for POMC and LEPR Deficiency Obesities

Rare pediatric disease designation has just been granted to Rhythm Pharmaceuticals for their investigative therapy called setmelanotide. This drug is being investigated as a therapeutic option for two conditions- leptin…

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Familial Chylomicronemia Syndrome Foundation Announces Support for HEART Act
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Familial Chylomicronemia Syndrome Foundation Announces Support for HEART Act

  In a July 9 press release, the Familial Chylomicronemia Syndrome (FCS) Foundation announced its support for a bill introduced by Congressman Paul Tonko (D-NY) and David B. McKinley (R-WV).…

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July 13th is GIST Awareness Day: Spreading Rare Disease Awareness
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July 13th is GIST Awareness Day: Spreading Rare Disease Awareness

Each year, June 13th is celebrated as Gastrointestinal Stromal Tumors (GIST) Awareness Day. The ultimate goal of awareness days for rare diseases is to help inform both the general public…

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Myelodysplastic Syndromes: Phase 1 Trial Results Find Potential in New Combination Therapy
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Myelodysplastic Syndromes: Phase 1 Trial Results Find Potential in New Combination Therapy

According to a story from GlobeNewswire, the biopharmaceutical company Onconova Therapeutics, Inc. has recently published results from a phase 1 clinical trial that was sponsored by the company. This trial…

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Possible New Treatment for Facioscapulohumeral Muscular Dystrophy
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Possible New Treatment for Facioscapulohumeral Muscular Dystrophy

A team of researchers from the University of Alberta have created a possible treatment for facioscapulohumeral muscular dystrophy (FSHD). Their work has been published in the Proceedings of the National Academy…

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Congenital Ichthyosis and Tuberous Sclerosis Complex Clinical Trials are Now Enrolling Patients
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Congenital Ichthyosis and Tuberous Sclerosis Complex Clinical Trials are Now Enrolling Patients

Timber Pharmaceuticals focuses on rare diseases of dermatologic origin. These include scleroderma, congenital ichthyosis, tuberous sclerosis complex, and facial angiofibromas. They are currently working on two clinical trials. Trial 1…

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New Study Finds Potential RNA Treatment for Charcot-Marie-Tooth Disease Type 1 A
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New Study Finds Potential RNA Treatment for Charcot-Marie-Tooth Disease Type 1 A

CMT1A Charcot-Marie-Tooth disease (CMT) has a few different subtypes. 60% of all patients diagnosed with type 1 of the rare disease have CMT1A. This subtype means patients have an duplicate copy…

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MRFF Funding Promotes Treatment Development for Patients with Rare Diseases
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MRFF Funding Promotes Treatment Development for Patients with Rare Diseases

  When it comes to researching and finding treatments for rare diseases, funding plays a crucial role. Recently, the Medical Research Future Fund (MRFF) Stem Cell Therapies Mission presented Monash…

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