This Woman is the First Ever Patient to Have Both aHUS and Cobalamin C Deficiency

When the 19-year-old French woman first visited the hospital, she was extremely lethargic. She displayed neurological symptoms. Upon kidney failure, the patient was admitted into the ICU. But soon, doctors…

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Expressive Language Sampling May Lead to Treatment Options for Fragile X Syndrome
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Expressive Language Sampling May Lead to Treatment Options for Fragile X Syndrome

By Danielle Bradshaw from In The Cloud Copy Expressive language sampling, or ELS, could potentially help researchers better measure how well treatments work for patients with fragile X syndrome or…

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Arabel Spent Quarantine With her Mom and her Paints: An HAE Patient Story
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Arabel Spent Quarantine With her Mom and her Paints: An HAE Patient Story

Arabel Standingbear sketches figures with lead pencils and paints realistic scenes with acrylics. Her poem was accepted by a museum. She has won in local art contests between schools, and…

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June is Myasthenia Gravis Awareness Month: Spreading Rare Disease Awareness
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June is Myasthenia Gravis Awareness Month: Spreading Rare Disease Awareness

June is recognized as Myasthenia Gravis Awareness Month. Primarily organized by the Myasthenia Gravis Foundation of America (MGFA), this event is focused on spreading awareness as well as boosting efforts…

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Experimental Treatment for Neuroblastoma Earns Rare Pediatric Disease Designation
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Experimental Treatment for Neuroblastoma Earns Rare Pediatric Disease Designation

According to a story from BioSpace, the radiopharmaceutical company Clarity Pharmaceuticals has recently announced that the US Food and Drug Administration (FDA) has granted Rare Pediatric Disease designation to its…

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Study: Nuplazid as a Treatment for Psychosis in Parkinson’s Disease Patients
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Study: Nuplazid as a Treatment for Psychosis in Parkinson’s Disease Patients

Acadia Pharmaceuticals recently released the results of their Phase 3 trial of Nuplazid, a treatment for the psychosis that Parkinson's disease patients experience. This medication has been approved since 2016,…

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Patients with Lesch-Nyhan Syndrome Have Biochemically Altered Skin, Urine, and Spinal Fluid
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Patients with Lesch-Nyhan Syndrome Have Biochemically Altered Skin, Urine, and Spinal Fluid

According to News Medical, a recent international study designed to understand Lesch-Nyhan syndrome and its potential treatments discovered something intriguing: biochemical changes in the skin, cerebrospinal fluid, and urine. Now,…

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Filmmaker with Muscular Dystrophy Wins Award for “Muscle Warriors” Documentary
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Filmmaker with Muscular Dystrophy Wins Award for “Muscle Warriors” Documentary

  According to Disability Horizons, an extremely talented filmmaker with muscular dystrophy recently won an Award of Recognition from The Best Shorts Film Competition. Stephanie Castelete-Tyrrell's film, entitled Muscle Warriors, documents…

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Consumers with Allergies, EoE Worry When FDA Relaxes Food Labeling Guidelines
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Consumers with Allergies, EoE Worry When FDA Relaxes Food Labeling Guidelines

  Stacey Saiontz is many things: a worker, a wife, a mother. But right now, she is concerned. As an allergy parent, or a parent whose child has severe food…

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NORD Announces Eleven New Grants for Rare Disease Research
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NORD Announces Eleven New Grants for Rare Disease Research

According to a story from PR Newswire, the National Organization for Rare Disorders (NORD) has recently awarded a total of eleven new grant awards that will help fund essential research…

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The Only Oral Drug for AIDS-Related Kaposi Sarcoma Has Been FDA Approved
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The Only Oral Drug for AIDS-Related Kaposi Sarcoma Has Been FDA Approved

  According to a recent article in Medscape, the FDA has issued accelerated approval for Bristol-Myers Squibb's Pomalyst (pomalidomide). Pomalyst was approved as the first new oral treatment for AIDS-related…

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Study: Ultomiris Resolves Complications of aHUS
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Study: Ultomiris Resolves Complications of aHUS

Ultomiris, a product of Alexion Pharmaceuticals, has recently been studied in a Phase 3 clinical trial. This study was intended to ultomiris' effect on life-threatening complications of atypical hemolytic uremic…

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Study Finds That Neuromyelitis Optica Patients Could Face Weakened Bones and Fractures
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Study Finds That Neuromyelitis Optica Patients Could Face Weakened Bones and Fractures

According to a story from Neurology Advisor, a recent study has found that patients living with neuromyelitis optica spectrum disorder (NMOSD) are at an increased risk of experiencing bone loss,…

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Amy Boland’s Last Option Was a Bispecific Antibody Drug for Lymphoma. It Worked.
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Amy Boland’s Last Option Was a Bispecific Antibody Drug for Lymphoma. It Worked.

  In a recent article that appeared in Science Magazine, Amy Boland described her twelve-year quest to find a cure for the cancer that invaded her lymph system. At first,…

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NDA to be Submitted for Potential Paroxysmal Nocturnal Hemoglobinuria Treatment
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NDA to be Submitted for Potential Paroxysmal Nocturnal Hemoglobinuria Treatment

According to a story from globenewswire.com, the biopharmaceutical company Apellis Pharmaceuticals, Inc. has announced that it is currently making plans to submit a New Drug Application (NDA) to the US…

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