This Huntington’s Disease Trial Could be a Breakthrough–But Not Everyone That Needs Help Can Get In
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This Huntington’s Disease Trial Could be a Breakthrough–But Not Everyone That Needs Help Can Get In

According to a story from statnews.com, the family of 46 year old Tammy Stewart has been plagued by Huntington's disease, an ultimately fatal, progressive, degenerative disease that causes decades of…

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Using PacBio SMRT Sequencing in Myotonic Dystrophy Type 1 and Other Rare Disorders

  Stéphanie Tomé is an investigator at the Sorbonne Université in Paris, France. A recent article in PacBio describes Tomé’s research into a disease that becomes progressively worse with each generation.…

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New Partnership Aims to Develop Treatment for Huntington’s Disease
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New Partnership Aims to Develop Treatment for Huntington’s Disease

According to a story from ncbiotech.org, a new partnership between Vertex Pharmaceuticals and RNA-based therapeutics company Ribometrix aims to develop potential treatments for serious diseases, including Huntington's disease, which is…

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New Study Finds Genetic Instability in Brain Cells as Key Trigger for Huntington’s Disease

According to a story from Medical Xpress, a recent study has determined that the onset of Huntington's disease symptoms is triggered by genetic instability in a specific sequence of DNA…

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Researchers Might Have Just Made a Breakthrough Discovery for Treating Rare Proteinopathies

It's common knowledge among researchers who study diseases called toxic proteinopathies that this group of disorders are the result of misfolded proteins that reside in cells. Certain proteins fail to…

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Researchers are Working to Repair a Small Step In a Pathway Involved in Neurodegenerative Diseases

It's common knowledge among researchers who study diseases called toxic proteinopathies, that this grou of disorders are the result of misfolded proteins that reside in cells. Certain proteins fail to…

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DNA Sequencing Took Years, Now it Takes Hours; As a Result, Researchers Have Discovered The Cause of Four Rare Diseases

Researchers at the University of Tokyo have discovered that one segment of DNA is responsible for four rare diseases. As reported in Science Daily, the university team also believes that…

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A New Way to Study Disease: Scientists Have Recreated a Blood-Brain Barrier Outside the Body
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A New Way to Study Disease: Scientists Have Recreated a Blood-Brain Barrier Outside the Body

  The blood-brain barrier is a “gatekeeper” that prevents toxins and foreign matter in the bloodstream from traveling to the brain. Check Orphan recently carried an article that had been…

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The FDA, Congress, A Young Woman Dying of ALS, Her Physician, and Her Parents Are All Struggling Over Access to an Untested Therapy

  The Hermstads of Spencer, Iowa lost Jaci’s twin to ALS and now they must watch Jaci, rapidly descend into the depths of the same disease. Jaci has a rare…

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Study Suggests Brain Enzyme Might Form Tubes That Transport Huntington’s Disease Protein
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Study Suggests Brain Enzyme Might Form Tubes That Transport Huntington’s Disease Protein

According to a publication from Laboratory Equipment, a new animal study of mice with simulated Huntington's disease suggests that a protein associated with the symptoms of Huntington's can form small,…

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To Know or Not to Know: Your Prerogative as Someone at Risk for Huntington’s Disease

Huntington's Disease Huntington's disease (HD) is a rare neurodegenerative disease. It progressively affects the patient's mobility and cognitive function. Unfortunately, a cure has yet to be discovered and the condition…

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Findings From Latest Trial Could Herald Progress in Developing a Treatment for Huntington’s Disease
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Findings From Latest Trial Could Herald Progress in Developing a Treatment for Huntington’s Disease

According to a story from Biopharma Dive, an investigational therapy for Huntington's disease that is in development could be the first step in the implementation of the first-ever disease modifying…

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Study Shows Hypertension Drug Could be Effective Treatment for Huntington’s Disease and Similar Illnesses

Neurodegenerative Diseases There are a wide range of neurodegenerative diseases including Huntington's disease and Parkinson's disease. These conditions typically affect the older population. As the world's population ages, more people…

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The First Adeno-Associated Viral Gene Therapy for Huntington’s Disease Receives the FDA’s Fast Track Designation
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The First Adeno-Associated Viral Gene Therapy for Huntington’s Disease Receives the FDA’s Fast Track Designation

  A recent article in globenewswire.com news reported that the FDA has approved Fast Track Designation for AMT 130, an experimental gene therapy for the treatment of Huntington’s disease. The…

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Exciting Gene Therapy Progress in Huntington’s Disease and Spinocerebellar Ataxia

Huntington's Disease & SCAs  Huntington's disease (HD) and spinocerebellar ataxia (SCA) are both neurodegenerative diseases caused by the same type of error in the body's DNA. Essentially, the CAG or…

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Yet Another Study Shows the Dire Need for More Diversity in Medical Research

A recent study published in Cell has exhibited the scientific community's negligence for conducting research that includes an adequate representation of non-Europeans. Specifically, it showed that 78% of patients in genomic…

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