LEGO to Introduce Braille Bricks for Children who are Blind! Coming to Stores in 2020

The Importance of Braille For any child with a rare disease that leads to blindness or visual impairment such as Stargardt disease, Usher Syndrome, Alström syndrome, or Retinal Blindness life…

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Researchers Find Gut Bacteria that Can Change Type A Blood to Type O
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Researchers Find Gut Bacteria that Can Change Type A Blood to Type O

Blood Donations For many people living with a rare disease such as Beta thalassemia, Hemophilia, Aplastic Anemia, Myelodysplastic syndromes, Acute Promyelocytic leukemia, and others, blood transfusions are not uncommon. For…

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12-Year-Old with Idiopathic Thrombocytopenic Purpura Creates Nonprofit to Make Transfusions Easier for Kids
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12-Year-Old with Idiopathic Thrombocytopenic Purpura Creates Nonprofit to Make Transfusions Easier for Kids

Ella Casano is a 12-year-old living with Idiopathic Thrombocytopenic Purpura (ITP) who had a brilliant idea about how she could help other children living with rare diseases like her own.…

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Research Highlights Distinctions Between Alzheimer’s Disease and Chronic Traumatic Encephalopathy
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Research Highlights Distinctions Between Alzheimer’s Disease and Chronic Traumatic Encephalopathy

According to a story from news-medical.net, an international research team affiliated with the UK Medical Research Council, Indiana University School of Medicine, and the University of Kansas have released a…

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Alnylam Pharmaceuticals Submits New Drug Application for Experimental Acute Hepatic Porphyria Drug
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Alnylam Pharmaceuticals Submits New Drug Application for Experimental Acute Hepatic Porphyria Drug

According to a press release from Alnylam Pharmaceuticals, the Massachusetts-based biopharmaceutical company has completed the submission of its New Drug Application (NDA) for givosiran — its experimental acute hepatic porphyria…

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First Patient Enrolled in Phase 3 Trial for Autosomal Dominant Polycystic Kidney Disease
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First Patient Enrolled in Phase 3 Trial for Autosomal Dominant Polycystic Kidney Disease

Do you have ADPKD? If you or someone you know has ADPKD, email us at [email protected]. We'd love to hear from you about your experience! According to a story from…

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Phase 2 Clinical Trial for Microvillus Inclusion Disease Approved to Begin in Turkey

MVID Microvillus inclusion disease (MVID) is a rare, gastrointestinal disease which can cause impaired development in children. It is characterized by severe diarrhea which leads to dehydration and malnutrition. MVID…

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Phase 1/2 Trial for an Experimental Phenylketonuria Gene Therapy Has Begun Enrollment

According to a story from globenewswire.com, the genetic medicines company Homology Medicines, Inc. has recently announced that it has opened enrollment for its phase 1/2 clinical trial. This clinical trial…

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Potential Treatment for Neurofibromatosis Type 1 Earns Fast Track Designation
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Potential Treatment for Neurofibromatosis Type 1 Earns Fast Track Designation

According to a story from Acrofan, the biopharmaceutical company SpringWorks Therapeutics, Inc. has recently announced the that company's experimental product candidate PD-0325901 has earned Fast Track designation from the US…

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Novel Finding Could Lead to the Development of a “Resistance-Proof” Antiviral Drug

A recent study published in PLOS Biology has shown a promising new vulnerability within human viruses which could lead to the development of a new antiviral drug. This study was…

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ICYMI: Gene Therapy That Could Make β-Thalassemia Patients Transfusion Independent Receives Marketing Authorization in EU

Transfusion-Dependent β-Thalassemia (TDT) Transfusion-dependent β-thalassemia (TDT) is a rare disease that is caused by a mutated β-globin gene. This mutation causes the amount of hemoglobin in the body to be…

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Orphazyme Preps to File European Marketing Application for Experimental Niemann-Pick disease Type C Drug
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Orphazyme Preps to File European Marketing Application for Experimental Niemann-Pick disease Type C Drug

According to a press release from Danish biopharmaceutical company Orphazyme, the Company intents to proceed with a marketing authorisation application (MAA) for its experimental Niemann-Pick disease type C treatment arimoclomol.…

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Extremely Positive Results Announced from Interim Analysis of Phase 2 Clinical Trial for Hemochromatosis

Hereditary Hemochromatosis Hereditary hemochromatosis (HH) is a rare disease caused by hepcidin deficiency or hepcidin insensitivity. Hepcidin naturally regulates iron absorption/distribution in the body. Without hepcidin, HH patients suffer from…

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