Rare Community Profiles: He’s Only “1 of 20,” But Jonathan Cappiello’s Impact Extends Much Further
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Rare Community Profiles: He’s Only “1 of 20,” But Jonathan Cappiello’s Impact Extends Much Further

Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more. Jonathan…

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RNU4-2 Variants Cause Up to 0.4% of Neurodevelopmental Disorders
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RNU4-2 Variants Cause Up to 0.4% of Neurodevelopmental Disorders

In unedited, early-access research published in Nature, a team of researchers explain that an estimated 60% of people with neurodevelopmental disorders remain undiagnosed, despite comprehensive genetic testing options. In many cases, this is…

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Rare Community Profiles: Volv’s Innovative Approach Harnesses the Power of AI for Rare Disease Detection
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Rare Community Profiles: Volv’s Innovative Approach Harnesses the Power of AI for Rare Disease Detection

  Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…

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Rare Community Profiles: Astellas Pharma’s Dr. Anthony Yanni Discusses the Success of the First-Ever Patient Advocacy Organization Action Week (PAOAW)
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Rare Community Profiles: Astellas Pharma’s Dr. Anthony Yanni Discusses the Success of the First-Ever Patient Advocacy Organization Action Week (PAOAW)

  Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…

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Rare Community Profiles: White Paper Discusses Access Barriers in IgG4-Related Disease (IgG4-RD)
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Rare Community Profiles: White Paper Discusses Access Barriers in IgG4-Related Disease (IgG4-RD)

  Rare Community Profiles is a Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.…

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New FDA Regulation on Laboratory Developed Tests Draws Objections from Healthcare Groups
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New FDA Regulation on Laboratory Developed Tests Draws Objections from Healthcare Groups

As reported in Biopharma Dive, the FDA’s decision to strengthen its authority involving laboratory developed tests (LDTs) has drawn considerable objections from various healthcare groups. However, the Agency has held…

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Scientists have Discovered a Connection Between Metabolic Problems in the Brain and Neurological Disorders
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Scientists have Discovered a Connection Between Metabolic Problems in the Brain and Neurological Disorders

  These efforts led to collaboration by the International Brain pH Project that involves 131 scientists in 105 labs from seven countries. The scientists have identified changes in lactate levels…

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Science Simplified: Differences Between a Gene Therapy Clinical Trial and a Cure
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Science Simplified: Differences Between a Gene Therapy Clinical Trial and a Cure

Want to learn about scientific topics without needing a PhD? Check out the Science Simplified blog from TESS Research Foundation! Dr. Tanya Brown, PhD, works with researchers to make science…

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Doctors Transplant Genetically Edited Pig Kidney Into 62-Year-Old Man with End-Stage Kidney Disease
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Doctors Transplant Genetically Edited Pig Kidney Into 62-Year-Old Man with End-Stage Kidney Disease

Over 100,000 individuals living in the U.S. are on a waiting list for an organ transplant. An average of 17 people die each day while waiting for a donor organ.…

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