Study from Japan Shows Mortality Associated with Bronchopulmonary Dysplasia has Decreased
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Study from Japan Shows Mortality Associated with Bronchopulmonary Dysplasia has Decreased

BPD Bronchopulmonary dysplasia (BPD) is a rare condition that primarily affects the lungs of premature babies (though it can affect full term newborns as well). Most children with BPD are born…

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Study Illuminates Link Between Hematuria Remission and Outcomes for Immunoglobulin A Nephropathy Patients
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Study Illuminates Link Between Hematuria Remission and Outcomes for Immunoglobulin A Nephropathy Patients

Immunoglobulin A nephropathy (IgAN) is a glomerular disease which can lead to kidney failure. Between 70 and 100 percent of all IgAN patients also are diagnosed with microscopic hematuria, but…

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Updates on Gene Therapy Research for Rare Diseases During the COVID-19 Pandemic

Research During COVID Many medical research projects have faced hurdles since the pandemic has started. Regulators have changed development timelines, and many have had to delay their clinical trials due…

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Survey Indicates Needs of Rare Disease Patients During COVID-19
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Survey Indicates Needs of Rare Disease Patients During COVID-19

Eurordis The European Organization for Rare Diseases (Eurordis) is a nonprofit organization which organizes over 930 rare disease groups into one alliance. Groups have joined the network from 73 different countries.…

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Oral Therapy Has Changed The Life of This Little Girl Living with Spinal Muscular Atrophy

Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is a rare disease that causes progressive muscle loss and resultant muscle weakness. It is caused by a lack of motor neurons. It…

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Study Investigates Needs of Amyloidosis and Immunoglobulin Deposition Disease Patients During COVID-19
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Study Investigates Needs of Amyloidosis and Immunoglobulin Deposition Disease Patients During COVID-19

Throughout the COVID-19 pandemic, researchers have been dedicated to understanding which individuals are most at risk for severe disease. They've found that those who are immunocompromised and have certain cancers…

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Investigative Therapy to Treat Underlying Cause of Systemic Mastocytosis is Under FDA Review

Blueprint Medicines Corporation has just announced that they have submitted a supplemental New Drug Application (NDA) to the FDA. This application is for a therapy called AYVAKIT, which was developed…

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No Deal Brexit Could Eliminate Collaboration for Rare Disease Research in The UK
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No Deal Brexit Could Eliminate Collaboration for Rare Disease Research in The UK

No deal Brexit means that the UK will be excluded from the 24 ERNs (European Reference Networks). Without the sharing of information, data, and research across countries, rare disease research…

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New Potential Therapy to Treat Pulmonary Fibrosis in Systemic Sclerosis and COVID-19
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New Potential Therapy to Treat Pulmonary Fibrosis in Systemic Sclerosis and COVID-19

Pulmonary fibrosis is a condition that is caused by scarring of the lungs which can lead to shortness of breath and other respiratory issues. Some cases of COVID-19 have lead to…

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Study Shows Glaucoma and Other Eye Conditions May be Linked to Alzheimer’s Disease
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Study Shows Glaucoma and Other Eye Conditions May be Linked to Alzheimer’s Disease

Researchers have uncovered that there is a link between Alzheimer's disease and three eye conditions- glaucoma, diabetic retinopathy, and macular degeneration (age-related). This could mean that there may be another…

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Transitioning from Pediatric to Adult Care with Cystic Fibrosis Needs to be a Team Effort

Transitions to adult care for patients who have a chronic respiratory disease, like cystic fibrosis, or a type of neuromuscular disease that influences the respiratory system is something that the medical…

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Researchers Find Hypothyroidism is Linked to ANCA-Associated Vasculitis

The American College of Rheumatology presented new findings on November 5, 2020 at their virtual conference. They found that in patients with ANCA-associated vasculitis (AAV), hypothyroidism is associated with positive…

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Study Examines Telehealth Visits for Patients with Autoimmune Conditions During COVID-19

Michael George and his team from the University of Pennsylvania have recently uncovered new insights regarding autoimmune patient’s comfortability with care during COVID-19. They've been working since the pandemic began…

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New Discovery Allows Researchers to Study Mechanisms in Neurodegenerative Diseases from Beginning of life
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New Discovery Allows Researchers to Study Mechanisms in Neurodegenerative Diseases from Beginning of life

Dilated cardiomyopathy is a heart condition caused by a mutation in the RBM20 gene. This heart condition is unique because it can affect young adults. These individuals are at an…

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Study Demonstrates Awareness and Research is Needed for Premenstrual Dysphoric Disorder

PMDD Premenstrual dysphoric disorder (PMDD) is a psychological condition which cyclically occurs with the menstruation cycle. Unfortunately, because the symptoms of this condition can mirror many mental health diagnoses, it…

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