All Posts In Research and HD

HDSA Research Webinars: The FDA and Patient Engagement— What’s Next for the HD Community?

May 12th, 2016 Presenters Dr. John Whyte, MD, MPH — Director of Professional Affairs and Stakeholder Engagement at the Federal Drug Administration (FDA) Laurie Haughey — Health Communications Specialist, Professional Affairs and Stakeholder Engagement at the Federal Drug Administration (FDA) Summary The Federal Drug Administration (FDA) is a public health organization that evaluates the safety, […]

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Optimising occupational performance through sensory modulation interventions: Case reports of two young adults diagnosed with juvenile Huntington’s disease

Huntington’s disease is a dominant autosomal inherited genetic disorder, meaning that the child of any parent with Huntington’s disease has a 50% chance of inheriting the disorder. The mutation that causes Huntington’s disease is a CAG repeat extension in the HTT gene on chromosome 4. If someone is born with a repeat number of 40 […]

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Cerebrovascular and Blood-Brain Barrier Impairments in Huntington’s Disease: Potential Implications for Its Pathophysiology

Background The brain is a complex and energy demanding organ. In order to prosper it needs a constant flow of nutrients, oxygen, and stimulation. In the developing brain for example, neuronal connections, called synapses, that are not used will eventually be pruned away, resulting in highly specific neural networks. Nutrients and oxygen are delivered to […]

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Isis Pharmaceutical Trial

Isis Pharmaceutical trials have begun for a much-anticipated antisense drug, ISIS-HTTRx,. ISIS-HTTRx, aims to reduce the amount of mutant huntingtin protein made in the brain. The antisense oglionucleotide drug binds to the mRNA of the harmful huntingtin protein and physically prevents protein production. The drug also recruits an enzyme to degrade the mRNA. (For more […]

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HTT Promoter Mutation has a Bi-directional Effect on HD Age of Onset

Huntington’s disease (HD) is a genetic disorder caused by a mutation in the huntingtin gene (HTT). The mutation is identified as an extended number of CAG repeats where 40 or more repeats results in mutated huntingtin protein production and Huntington’s disease. The condition is inherited in an autosomal dominant fashion— meaning that only one copy […]

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The Stanford “Center of Excellence”

Stanford has recently been recognized by the Huntington’s Disease Society of America (HDSA) as a “Center of Excellence,” a designation reserved for medical clinics providing the highest standard of care to Huntington’s disease (HD) patients. Two neurologists, Drs. Veronica Santini and Sharon Sha, direct the Stanford Multidisciplinary HD and Ataxia clinic, which has received the […]

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Research and HD: Table of Contents

Research Basics The Huntington’s Disease Pipeline The HD Measuring Stick: Assessment Standards for Huntington’s Disease An Introduction to Animal Models of Huntington’s Disease Animal Research: The Ethics of Animal Experimentation Studying Huntington’s Disease Clinical Trials on Huntington’s Disease Neuroimaging Research Updates HDSA Research Webinars: The FDA and Patient Engagement— What’s Next for the HD Community? […]

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Research Institutions: Table of Contents

Research Institutions About HDSA Centers of Excellence The Stanford “Center of Excellence” UC Davis Center of Excellence The Washington University Medical Center in St. Louis Center of Excellence Johns Hopkins Center of Excellence HDSA Center of Excellence and Columbia University Hennepin County Medical Center of Excellence More Research Institutions

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Research Updates: Table of Contents

Research Updates HDSA Research Webinars: The FDA and Patient Engagement— What’s Next for the HD Community? Stem Cell Research Provides Insight on HD Development and Potential Therapeutic Targets Optimising occupational performance through sensory modulation interventions: Case reports of two young adults diagnosed with juvenile Huntington’s disease Cerebrovascular and Blood-Brain Barrier Impairments in Huntington’s Disease: Potential […]

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Research Basics: Table of Contents

Research Basics The Huntington’s Disease Pipeline The HD Measuring Stick: Assessment Standards for Huntington’s Disease An Introduction to Animal Models of Huntington’s Disease Animal Research: The Ethics of Animal Experimentation Studying Huntington’s Disease Clinical Trials on Huntington’s Disease (2011) Neuroimaging

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Inhibition of mitochondrial protein import by mutant huntingtin

Inhibition of mitochondrial protein import by mutant huntingtin Research has shown that mitochondrial dysfunction is associated with neuronal loss in Huntington’s disease (HD). However, it is unclear how mutant huntingtin (Htt) may cause such dysfunction. Researchers at University of Pittsburg and Washington University have discovered evidence of a direct relationship between mutant Htt and the […]

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Emotional Recognition Deficits

It is well documented, as reviewed by Labuschagne et al. (2012), that Huntington’s disease (HD) patients often have difficulty recognizing facial cues and understanding emotions of other individuals1, especially regarding the emotion of disgust2. Such emotional deficits can greatly diminish their ability to communicate, which may result in aggravated tension and stress between patients and […]

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Trojan Therapy

The blood-brain barrier (BBB) is a layer of cells that block most molecules from entering the brain in order to protect this sensitive organ from external invaders. It does its job so well that delivering treatments to the brain is extremely difficult and poses a great challenge to drug development.   Researchers from the University […]

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Transgenic HD Monkey Models

Introduction This article will discuss the advantages and disadvantages of using transgenic monkeys to model Huntington’s disease (HD). Most HD animal research utilizes mouse models of the disease. While there is much that we can learn from mice, animals that are more similar to humans, such as monkeys, could offer more pertinent insights into HD […]

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Neuroimaging

Neuroimaging refers to techniques that produce images of the brain without requiring surgery, incision of the skin, or any direct contact with the inside of the body.  Because these technologies enable noninvasive visualization of the structure and functionality of the brain, neuroimaging has become a powerful tool for both research and medical diagnosis.  Although still […]

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Induced Pluripotent Stem Cells: The Future of Tissue Generation

As viable human brain tissue is not available for use in studying disease development and creating therapies for neurological disorders like Huntington’s disease (HD), researchers desperately needed an alternative cell source for this purpose.  Embryonic stem cells fit this role but have many disadvantages, especially for treatments, including immune rejection by the recipient. Some of […]

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Induced Neurons

Despite predictions of transdifferentiation being a technology of the future, Dr. Marius Wernig’s lab at Stanford has recently discovered a method of reengineering neurons directly from fibroblasts by the the forced expression of transgenes. This is the same method by which induced pluriptent stem cells (iPSCs) are produced, and transdifferentiation, the engineering of cells so […]

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Mesenchymal Stem Cells

Mesenchymal stem cells (MSCs) are a type of multipotent stem cell, meaning that they can give rise to many but not all types of cells in the body. MSCs secrete substances, including cytokines and growth factors, that are essential to cell growth and help repair damaged tissue. Researchers are still exploring the functions of human […]

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Clinical Trials on Huntington’s disease

What are clinical trials? In order for any drug or treatment to be approved for human use by the FDA, it must first successfully pass clinical trials. A clinical trial is a medical or health-related research study in humans that follows a strict protocol in a carefully monitored, scientifically controlled setting. Clinical trials are generally […]

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Studying Huntington's Disease

This chapter explains some of the many different types of research that scientists use to study Huntington’s Disease. The above figure shows a rather strange mouse paw photographed under fluorescent light. Why on earth is this paw green? Despite its appearance, the mouse is not an alien nor has it taken a bath in nuclear […]

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