Researchers Discover ‘Super Minigene’ that Helps Find Potential Therapies for Spinal Muscular Atrophy
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Researchers Discover ‘Super Minigene’ that Helps Find Potential Therapies for Spinal Muscular Atrophy

For decades researchers have had to isolate segments of genes in order to study them. They called the isolated gene a “mini gene.” Ravindra Singh, a biomedical science professor at…

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Gene Therapy Led to “Robust Microdystrophin Expression” in Duchenne Muscular Dystrophy Patient
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Gene Therapy Led to “Robust Microdystrophin Expression” in Duchenne Muscular Dystrophy Patient

Duchenne muscular dystrophy (DMD) is an inherited disease that weakens a child’s muscles and eventually spreads throughout the child’s body. DMD is caused by mutations in the gene that helps…

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First Treatment Approved for Nonalcoholic Steatohepatitis Liver Scarring
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First Treatment Approved for Nonalcoholic Steatohepatitis Liver Scarring

According to a press release from the US Food and Drug Administration (FDA), the agency has approved the medication resmetirom (marketed as Rezdiffra) as the first-ever treatment intended to treat…

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ADHD Drug Shortages Mean People Aren’t Getting Their Meds 
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ADHD Drug Shortages Mean People Aren’t Getting Their Meds 

Medication can be an essential component of managing attention deficit hyperactivity disorder (ADHD). These medications, such as Vyvanse and Adderall, can help to: Reduce symptoms like impulsivity, hyperactivity, and inattention…

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Rare Community Profiles: Revving for Hope: Raising HoFH Awareness in One Ride
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Rare Community Profiles: Revving for Hope: Raising HoFH Awareness in One Ride

  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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Danicopan Approved as Add-On Therapy for PNH Treatment
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Danicopan Approved as Add-On Therapy for PNH Treatment

Ultomiris (ravulizumab) and Soliris (eculizumab), both developed by global biopharmaceutical leader AstraZeneca, are both effective treatments for paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS). Yet this efficacy…

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Raising Vanishing White Matter Disease (VWM) Awareness: How Ella’s Pitch Catalyzed Change
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Raising Vanishing White Matter Disease (VWM) Awareness: How Ella’s Pitch Catalyzed Change

When you’re a baseball fan, any chance you get to join in and really experience the game is amazing. Seven-year-old Ella McKee has always been fascinated by baseball. She loves…

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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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Scientists Find Potential Treatment Approach for FTD and ALS
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Scientists Find Potential Treatment Approach for FTD and ALS

According to a recent article in MedicalXpress, scientists have discovered a possible method of treating amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The study was also published in Science…

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Eosinophilic Esophagitis Patients Are Seeing Improved Treatment Options
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Eosinophilic Esophagitis Patients Are Seeing Improved Treatment Options

Recently, the US Food and Drug Administration (FDA) approved a label expansion for the monoclonal antibody dupilumab (marketed as Dupixent) in the treatment of a rare disease called eosinophilic esophagitis…

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Rare Community Profiles: How Beth and Madison Advocated for Public Funding for the First Cystic Fibrosis (CF) Modulator in Canada
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Rare Community Profiles: How Beth and Madison Advocated for Public Funding for the First Cystic Fibrosis (CF) Modulator in Canada

  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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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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Rare Community Profiles: Kristi’s Fight to Combat Misconceptions about Prader-Willi Syndrome (PWS): “Our Children Have PWS; They Are Not PWS”
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Rare Community Profiles: Kristi’s Fight to Combat Misconceptions about Prader-Willi Syndrome (PWS): “Our Children Have PWS; They Are Not PWS”

  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.…

Continue Reading Rare Community Profiles: Kristi’s Fight to Combat Misconceptions about Prader-Willi Syndrome (PWS): “Our Children Have PWS; They Are Not PWS”