New Study Suggests Targeted Next Generation Sequencing Can Aid in Identification of Menkes Disease
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New Study Suggests Targeted Next Generation Sequencing Can Aid in Identification of Menkes Disease

  In a recent press release, biopharmaceutical company Fortress Biotech announced that their study regarding ATP7A targeted next generation DNA sequencing for Menkes disease was published in Molecular Genetics and Metabolism…

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Three Young People With Chronic Illness Talk About the Challenges They Face
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Three Young People With Chronic Illness Talk About the Challenges They Face

  Three people with an eye on the future talk about their innermost feelings and the fact that their lives may be interrupted at any time by their chronic illness.…

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Combining Three Drugs in the Treatment of Multiple Myeloma Patients Shows Solid Clinical Activity
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Combining Three Drugs in the Treatment of Multiple Myeloma Patients Shows Solid Clinical Activity

  According to data from the STOMP trial involving thirty-four patients, a triple regimen has been proven to induce durable responses in pretreated patients with relapsed/refractory multiple myeloma. A recent…

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Rare Disease Advocacy Group has Innovative Idea to Raise Awareness Amidst Social Distancing
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Rare Disease Advocacy Group has Innovative Idea to Raise Awareness Amidst Social Distancing

Gaucher Disease Awareness Month takes place every October, but amidst this new global pandemic, planning has taken place early to figure out how to make the month as successful as…

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The ADA is 30 Years Old. What Does it Mean to Young People with Disabilities?
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The ADA is 30 Years Old. What Does it Mean to Young People with Disabilities?

According to a story from Youth Today, the Americans with Disabilities Act (ADA) was first passed 30 years ago, in 1990. This historic law helps protect people that live with…

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New Study Evaluates Peripheral Neuropathy Associated with Chemotherapy in Charcot-Marie-Tooth Disease Gene Variants
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New Study Evaluates Peripheral Neuropathy Associated with Chemotherapy in Charcot-Marie-Tooth Disease Gene Variants

Chemotherapy-induced peripheral neuropathy, or CIPN, is a common side effect of chemotherapy. A recent study aimed to uncover whether or not oxaliplatin chemotherapy increased risk of CIPN for those with…

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Scares That Care Virtual Charity Event Supporting Marfan Syndrome Patient to Take Place August 1st
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Scares That Care Virtual Charity Event Supporting Marfan Syndrome Patient to Take Place August 1st

Scares That Care Scares That Care is a 501(c)(3) organization, first established in 2007 by Joe Ripple, dedicated to fighting the "monsters" of childhood illnesses, breast cancer, and burns. They support…

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Traveling with Atypical Hemolytic Uremic Syndrome: Tips for Patients
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Traveling with Atypical Hemolytic Uremic Syndrome: Tips for Patients

According to a story from ahusnews.com, traveling with atypical hemolytic uremic syndrome (aHUS) takes some extra preparation and planning ahead. This syndrome can affect multiple organ systems and especially the…

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