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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The FDA is Reversing Course on Unapproved Products Sold by Stem Cell Manufacturers

  The FDA’s “untitled letter” to R3 Stem Cell (R3), based in Scottsdale Arizona, cautioned R3 that the product they are marketing is considered a drug. It must, therefore, be…

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Experimental Beta Thalassemia Drug Gains Temporary Short-Term Approval in Europe
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Experimental Beta Thalassemia Drug Gains Temporary Short-Term Approval in Europe

According to a publication from BNN Bloomberg, regulatory authorities in the European Commission recently granted conditional marketing authorization (CMA) to Zynteglo. Zynteglo is a gene therapy designed to treat beta…

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Very First Patient Dosed with Investigational Therapy for Friedreich’s Ataxia in Phase 2 Clinical Trial

Friedreich's Ataxia Friedreich's ataxia (FRDA) is a rare disease which is caused by a frataxin deficiency. This deficiency results in the degeneration of nerves within the spinal cord. This nerve…

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Let the Men in Your Life Know About Men’s Health and Rare Diseases for Father’s Day

June 10th through 16th is Men Health's/Rare Dads Week! We would like to devote some attention to the rare diseases that affect mostly men - because to quote Congressman Bill…

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The FDA, Congress, A Young Woman Dying of ALS, Her Physician, and Her Parents Are All Struggling Over Access to an Untested Therapy

  The Hermstads of Spencer, Iowa lost Jaci’s twin to ALS and now they must watch Jaci, rapidly descend into the depths of the same disease. Jaci has a rare…

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“I Am My Own Best Asset”: Learning to Be Your Own Advocate When Living with a Rare Disease or Chronic Illness

The Danger of Stereotypes There is still a huge stereotype that women are prone to "hysteria." This leads to a general distrust in women's self-reported symptoms. Physicians consciously or unconsciously…

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“Stampede Scleroderma” Event for Systemic Sclerosis held at the Detroit Zoo Raised Over 130,000 Dollars for Research

Systemic Sclerosis Systemic Sclerosis (Systemic Scleroderma) is a rare disease which results in the hardening of the connective tissues in the body as well as the skin. It can affect…

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The PoppyPocket Helps Patients Wear Their Infusion Pumps More Comfortably, Safely, and Confidently

The PoppyPocket The PoppyPocket is a wearable pocket, created to make wearing infusion pumps and well as other medical devices easier, safer, and more comfortable. It comes with two pockets,…

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Experimental Treatment for Spinocerebellar Ataxia Earns Orphan Drug Designation from the FDA

According to a story from Business Wire, the drug developer Cadent Therapeutics recently announced that its investigational drug CAD-1883 has been awarded Orphan Drug Designation from the US Food and…

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NuEyes: Using Virtual Reality to Improve Vision for Achromatopsia, Congenital Nystagmus & Macular Degeneration Patients

An Idea Sometimes life leads us down unexpected paths. Mark Greget founded a medical device distribution company. That was his plan. But after interacting with patients through his work, he…

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Improvements in Treatment Access are Helping Indigenous Chronic Kidney Disease Patients, but More Changes are Needed
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Improvements in Treatment Access are Helping Indigenous Chronic Kidney Disease Patients, but More Changes are Needed

According to a story from abc.net.au, the local health services from northwest Queensland, Australia have recently been tasked with managing dialysis treatment centers in the region. This has improved access…

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Chiari Malformation Patient Hasn’t Let 6 Brain Surgeries or a Stroke Stop Her from Continuing Medical School

The Beginning of the Journey Claudia Martinez is a medical student at UTHealth McGovern Medical School. Her dream is, and always has been, to be a doctor. But an unexpected…

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After Diagnosis, This Man Traced the Origins of His Family’s hATTR Amyloidosis
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After Diagnosis, This Man Traced the Origins of His Family’s hATTR Amyloidosis

According to a story from Wapakoneta Daily News, Greg was devastated when he learned that his brother was diagnosed with hereditary transthyretin mediated (hATTR) amyloidosis. Ultimately, the disease would take…

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