The Link Between Myotonic Dystrophy Type 2 and Recurrent Ventricular Tachycardia Needs More Research

Myotonic dystrophy type 2 is a rare and poorly understood condition. Even less understood is its relation to recurrent ventricular tachycardia, which is even rarer. Myotonic Dystrophy Type 2 Myotonic…

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The Discovery of 261 New Gene Mutations Which Could Cause Blindness May Lead to More Accurate Diagnoses and New Treatments
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The Discovery of 261 New Gene Mutations Which Could Cause Blindness May Lead to More Accurate Diagnoses and New Treatments

Ala Moshiri from the University of California is both a researcher and an eye doctor. He recently discussed his frustration surrounding the lack of available treatments for so many genetic…

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Study Finds Symptoms Can’t be The Only Measure for Response to Eosinophilic Esophagitis Treatment

A new study has examined the long-term impacts of esophageal dilation in eosinophilic esophagitis (EoE). The aim was to uncover the link between dilation and symptom reports. Additionally, the research…

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“New Era for Preventing End-Stage Kidney Disease Act” Could Improve Rare Disease Kidney Care
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“New Era for Preventing End-Stage Kidney Disease Act” Could Improve Rare Disease Kidney Care

The New Era for Preventing End-Stage Kidney Disease Act (H.R. 7506) is a new Act sponsored by Reps Gus Bilirakis and G.K. Butterfield. This Act would transform care for those…

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Phase 2b Global Trial for Idiopathic Pulmonary Fibrosis Has Completed Enrollment
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Phase 2b Global Trial for Idiopathic Pulmonary Fibrosis Has Completed Enrollment

Galecto has announced they have completed enrollment in their Phase2b trial which will investigate GB0139 as a treatment for idiopathic pulmonary fibrosis (IPF). This trial is called GALACTIC-1. Galecto anticipates…

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Investigative Treatment for ENPP1 Deficiency Has Moved to Phase 1/2 Clinical Trial

Inozyme Pharma has recently announced that the first participant has received a dose of INZ-701 treatment in their investigative Phase 1/2 trial for ENPP1 deficiency. This is the first clinical…

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The First Osteogenesis Imperfecta Patient Has Been Dosed in a Novel Phase 2/3 Investigation
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The First Osteogenesis Imperfecta Patient Has Been Dosed in a Novel Phase 2/3 Investigation

Ultragenyx Pharmaceutical Inc. has just announced the first dosing in their Phase 2/3 trial investigating setrusumab (UX143) as a treatment for osteogenesis imperfecta (OI) patients. This trial is called Orbit,…

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The National Society of Genetic Counselors has Joined Patient Worthy as an Advocacy Partner
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The National Society of Genetic Counselors has Joined Patient Worthy as an Advocacy Partner

Patient Worthy is delighted to announce that the National Society of Genetic Counselors (NSGC) has joined us as an advocacy partner! Genetic counselors play a critical role for individuals, families,…

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A National Survey of NASH Patients Will Provide Insights on Improving Care

The Fatty Liver Foundation (FLF) has just announced a new national survey which will document the experiences and needs of individuals living with non-alcoholic fatty liver disease (NAFLD) and nonalcoholic…

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Facial Angiofibroma Associated with Tuberous Sclerosis Complex Now Has an FDA Approved Topical Therapy

Nobelpharma has just announced the FDA approval of sirolimus .2% gel (called Hyftor). It is now the first approved, topical therapy for facial angiofibroma associated with the rare condition tuberous…

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Eosinophilic Esophagitis Patients May Need Extra Support in School to Ensure Adequate Nutrition
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Eosinophilic Esophagitis Patients May Need Extra Support in School to Ensure Adequate Nutrition

Colette Romero's son is diagnosed with eosinophilic esophagitis (EoE), a rare disease. She discusses how, among the challenges that come with this condition, education has presented extra difficulties. Education and…

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New Partnership will Fund Research for ALK-Positive Non-Small Cell Lung Cancer

ALK Positive Inc. (ALK Positive) and the Lung Cancer Research Foundation (LCRF) have just announced their collaboration for ALK-positive non-small cell lung cancer (NSCLC) projects. They will pledge 750,000 dollars…

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Phase 3 Investigation of Ampreloxetine Produces Positive Results for Neurogenic Orthostatic Hypotension

Theravance Biopharma Inc. has just released results from their 2nd Phase 3 investigation of Ampreloxetine as a therapy for symptomatic neurogenic orthostatic hypotension (nOH). Symptomatic nOH NOH is a rare…

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A New Care Center for Von Hippel-Lindau Disease Has Been Named by the VHL Alliance
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A New Care Center for Von Hippel-Lindau Disease Has Been Named by the VHL Alliance

The VHL Alliance has just recognized Loyola Medicine as a new VHL Clinical Care Center. Von Hippel-Lindau (VHL) disease patients require multidisciplinary care for their complex and rare condition, and…

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Recently Discovered “Sister” Bacteria to Lyme disease Highly Prevalent in New England
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Recently Discovered “Sister” Bacteria to Lyme disease Highly Prevalent in New England

A team of researchers from Yale School of Public Health, including Dr. Peter Krause, Dr. Durland Fish, Demerise Johnston, and others, have published a study in the journal Clinical Infectious Diseases documenting a…

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Study: Breast Cancer Treated with CDK Inhibitors Not at Increased Risk of Thromboembolic Events

A recent study has evaluated the incidence of thromboembolic events (TEE) in patients diagnosed with advanced HR-positive, HER2-negative breast cancer. Specifically, researchers were concerned that treatment with cyclin dependent kinase…

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