How this Sanfilippo Syndrome Patient Registry is Helping Patients
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How this Sanfilippo Syndrome Patient Registry is Helping Patients

The Connect MPS Patient Registry was created in 2016 to learn more about Sanfilippo syndrome and mucolipidoses (ML). 24 advocacy organizations are a part of this registry, all of which…

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New Genetic Test Can Predict Disease Progression of Idiopathic Pulmonary Fibrosis
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New Genetic Test Can Predict Disease Progression of Idiopathic Pulmonary Fibrosis

Predicting the disease progression of idiopathic pulmonary fibrosis (IPF) is extremely important, as this condition progresses differently depending on the affected individual. Knowing if one has a poor outcome while…

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An Ornithine Transcarbamylase Deficiency Treatment Has Been Approved for Clinical Trials
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An Ornithine Transcarbamylase Deficiency Treatment Has Been Approved for Clinical Trials

Ornithine transcarbamylase (OTC) deficiency is a disorder that can cause comas, seizures, and death, making it necessary for those affected to seek treatment. Arcturus Therapeutics aims to give those with…

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Arrowhead Pharmaceuticals Files for Clearance for Cystic Fibrosis Treatment Trial
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Arrowhead Pharmaceuticals Files for Clearance for Cystic Fibrosis Treatment Trial

Arrowhead Pharmaceuticals has recently submitted an application to the New Zealand Medicines and Medical Devices Safety Authority for the clearance of a clinical trial. They want to test their cystic…

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How This Family is Raising Awareness for Progressive Familial Intrahepatic Cholestasis

Shannon and Todd Palmatier have three children, two of which have progressive familial intrahepatic cholestasis (PFIC). Their sons' diagnoses have brought the lack of knowledge and advocacy to the attention…

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Researchers Discover New Gene that Contributes to the Progression of ALS
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Researchers Discover New Gene that Contributes to the Progression of ALS

Researchers at Columbia University have discovered a new gene, TBK1, that is linked to the progression of amyotrophic lateral sclerosis (ALS). A lack of understanding of a rare disease hinders…

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