Items Tagged ‘#neurological diseases’

July 1, 2021

Newly discovered genetic variants in a single gene cause neurodevelopmental disorder, Mayo study finds

By Susan Murphy Susan Murphy (@susanmurphy)

Rochester, Minn. — Mayo Clinic researchers have discovered that genetic variants in a neuro-associated gene called SPTBN1 are responsible for causing a neurodevelopmental disorder. The study, published in Nature Genetics, is a first step in finding a potential therapeutic strategy for this disorder, and it increases the number of genes known to be associated with […]

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Tags: #neurological diseases, Dr. Margot Cousin, genomics


July 9, 2019

Mayo experts provide insights into how genes affect medication response

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Pharmacogenomics – how a person’s genes affect medication response – is touching virtually every area of medical care.  Findings from the Mayo Clinic RIGHT study (Right Drug, Right Dose, Right Time–Using Genomic Data to Individualize Treatment) showed that 99% of participants had at least one genetic variant that may affect their response to medications.    […]

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Tags: #addiction, #anti-seizure medication, #Center for Individualized Mediicine, #Dr. Lauren Cornell, #Dr. Sanjay Bagaria, #Dr. William Freeman, #Dr. William Palmer, #drug-gene interactions, #epilepsy, #estrogen receptor positive breast cancer, #medical education, #neurological diseases


March 9, 2017

Next generation sequencing – a game changer

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Imagine scanning a page for errors manually one letter at a time, versus using a faster tool like spell check. That’s the difference between the first DNA sequencing methods and the new computerized machines known as next generation sequencing. It’s revolutionizing health care. Next generation sequencing technology enables geneticists to examine all of your 22,000 […]

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Tags: #Dr. Pavel Pichurin, #medical resarch, #neurological diseases, #Precision Mediicne, #rare diseases, #rare genetic diseases, #targeted panel testing, center for individualized medicine, Dr. Matthew Ferber, Genetic Testing, mayo clinic, next generation sequencing


February 23, 2017

Using genetic testing to transform care for neurological disorders

By Sharon Rosen Sharon Rosen (@sharonhrosen)

Our nervous system is made up of complex biological pathways that control everything we do, including breathing, thinking, speaking, moving and feeling. For patients suffering from a neurological disorder such as Parkinson’s disease, epilepsy, nerve pain (neuropathy) and dementia, the symptoms of these conditions can impact many aspects of daily life. Some patients with unexplained […]

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Tags: #Dr. Christopher Klein, #neurological diseases, #neurological disorders, #neurology, #targeted panel testing, #Tatiana Faroud, center for individualized medicine, DNA Testing, mayo clinic, Mayo Clinic Proceedings, whole exome sequencing, whole genome sequencing


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