ICYMI: Researchers Discover New Genetic Disorder When Linking CCR2 Deficiency to Pulmonary Alveolar Proteinosis
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ICYMI: Researchers Discover New Genetic Disorder When Linking CCR2 Deficiency to Pulmonary Alveolar Proteinosis

Anna-Lena Neehus of the Imagine Institute at Paris Cité University was searching through genomic data from over 15,000 patients. She wanted to understand how and whether genetic deficiencies contributed to…

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Intrastromal Lamellar Keratoplasty with Collagen Cross-Linking Improves Progressive Keratoconus
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Intrastromal Lamellar Keratoplasty with Collagen Cross-Linking Improves Progressive Keratoconus

The European Society of Cataract & Refractive Surgeons (ESCRS) held its ESCRS Winter Meeting from February 15-18, 2024. During the meeting, Dr. M.S. Swathi, MD, shared data from a pilot…

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Rare Community Profiles: The Urgent Need for a Cure for Niemann-Pick Type C: Two Parents Share Their Perspectives
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Rare Community Profiles: The Urgent Need for a Cure for Niemann-Pick Type C: Two Parents Share Their Perspectives

  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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