Expert Insights Newsletter by Medical Specialty - Neurology

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The Genetics of Hearing Loss

Since the sequencing of the human genome, we have made major advances in our understanding of auditory physiology. There have been state-of-the-art developments in the diagnosis of hearing loss, and research continues to advance the use of gene therapy as... Read more 

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Innovations in Alzheimer’s Disease Assessment: Quantitation of Amyloid Beta 40 and 42

Alzheimer's disease (AD) is highly prevalent, and its incidence is expected to double by 2050.1 Understanding the disease through early assessment and differentiating it from other forms of dementia can be helpful for physicians and patients. New approaches to assess... Read more 

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Autoimmune Neurology—Recent Advances in Disease Identification and Treatment

Autoimmune neurologic diseases are more common than traditionally believed. The recognition of antibodies associated with these conditions has grown significantly over recent years, leading to improvements in diagnosis and treatment. Dr. Steven Vernino, Professor and Vice Chair for Academic Affairs,... Read more 

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Paraneoplastic Autoantibody Syndromes—Diagnosing Neurological Disorders

Neuronal-specific autoantibodies have a variety of potential targets, and give rise to a range of dysfunctions and neurological syndromes. Diagnosing the associated syndromes can be challenging. Dr. Stanley Naides, Medical Director, Immunology R&D, Quest Diagnostics, discusses the mechanism and presentation... Read more 

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Personalized Medicine — How Genetics and Genomics are Transforming Healthcare

Personalized medicine has gained much attention following the announcement of a national initiative to fund "a new model of patient-powered research…to accelerate biomedical discoveries and provide clinicians with new tools, knowledge, and therapies to select which treatments will work best... Read more 

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Neurome - Exome Sequencing for Neurological Disorders

Advances enabled by the human genome project have led to testing capabilities which generate vast amounts of genetic data. Identifying clinical useful information from within the mass of data has become a significant challenge. Dr. Joseph J. Higgins, Laboratory Director,... Read more 

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Epilepsy: How Genetic Testing Enables More Precise Diagnosis and Targeted Therapy

About a third of epilepsy patients do not respond to therapy, despite a thorough work-up and extensive testing.1 Genetic testing of these patients can identify specific syndromes and provide a basis for more effective treatment. Dr. Juliann Paolicchi, Professor,Clinical Pediatrics... Read more 

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Epilepsy: How Next-Generation Genetic Testing Can Direct Therapy and Enhance Patient Care

Many types of epilepsy are associated with a genetic mutation, but determining the etiology of certain epilepsies remains a challenge. Dr. Scott Perry, Medical Director, Epilepsy Monitoring Unit, Cook Children's Health Care System, discusses how advances in genetic testing, including... Read more 

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BRCA Mutation Testing — Identifying Risk for Hereditary Breast and Ovarian Cancer

Compared to the general population, patients with a confirmed BRCA mutation have a significantly increased risk of developing cancer during their lifetime - up to an 85% risk of breast cancer, up to a 40% risk of ovarian cancer, and... Read more 

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Vitamin D - Achieving and Maintaining 25-Hydroxyvitamin D Sufficiency

There has been growing evidence over recent years of the health benefits of vitamin D and the detrimental effects of vitamin D deficiency. A clinical practice guideline (CPG) published in 2011 by The Endocrine Society1, provides recommendations for the evaluation,... Read more