Items Tagged ‘whole exome sequencing’

April 10, 2018

Celebrating 15 years of advances in genomics: a time to reflect and look forward

By Sharon Rosen sharonhrosen

DNA sequencing and genetic testing have changed medical practice by speeding diagnosis of rare diseases for which patients have visited many different medical providers in search of answers, offering new options in prenatal testing and ushering in a new era of individualized medicine. Genomics moved to the forefront of several areas of medicine after completion […]

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Tags: #15 for 15 Celebration, #cell-free DNA testing, #CIMCon18, #DNA sequencing tests, #Dr. Megan Allyse, #Dr. Myra Wick, #expanded carrier screening, #prenatal testing, #rare and undiagnosed diseases, #rare diseases, #rare genetic diseases, #reproductive health


November 7, 2017

Twenty-first century precision medicine cancer care

By Sharon Rosen sharonhrosen

As genomic sequencing has become faster and less expensive, physicians have used this new technology to guide and manage care for patients with cancer. Genomic testing, also known as genomic profiling, was initially used for patients with advanced cancer when standard therapy failed. The goal of the testing was to identify unique genetic characteristics of […]

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Tags: #cancer treatment, #Dr. Mitesh Borad, #genetic panel tests, #Genomic profiling, #targeted therapies, #tissue biopsy, #tumor sequencing, cancer, center for individualized medicine, Dr. Patricia LoRusso, mayo clinic, Mayo Clinic Proceedings


November 2, 2017

Mayo Clinic researchers find genetic pathways to individualized treatment for advanced prostate cancer

By Susan Buckles susanbuckles

Researchers at Mayo Clinic Center for Individualized Medicine have uncovered genetic clues to why tumors resist a specific therapy used for treating advanced prostate cancer. This discovery can guide health care providers to individualized treatments for castration-resistant prostate cancer, a deadly disease that does not respond to standard hormone therapy. Several U.S. Food and Drug […]

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Tags: Advanced prostate cancer, castration-resistant prostate cancer, center for individualized medicine, Dr. Keith Stewart, Dr. Liewei Wang, Dr. Manish Kohli, individualized medicine, medical research, personalized medicine, Precision Medicine, Prostate Cancer, RNA sequencing


October 17, 2017

Karter’s journey of hope

By Susan Buckles susanbuckles

Karter Malcomson’s cherubic face, inquisitive eyes and wide smile are magnetic. Behind them is a two- year-old boy with a rare disease that’s generated more medical mysteries in his short life than many face in an entire lifetime.  His circuitous journey to a diagnosis took his case before the Functional Genomics Team– the A team […]

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Tags: #Dr. Pavel Pichurin, #rare diseases, #Undiagnosed rare diseases, Genetic Testing, whole exome sequencing


September 25, 2017

Study evaluates effectiveness of deep genomic profiling in clinical setting

By Colette Gallagher colettegallagher

Genomic profiling is used today for patients with advanced cancers to help develop new ways to diagnose and treat their disease and offer an individualized treatment plan. While gene panel testing is relatively commonplace, there are many barriers to using new and more sophisticated DNA technologies. According to Mitesh Borad, M.D., an oncologist at the […]

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Tags: #cancer treatment, #CIMCon17, #Dr. Mitesh Borad, #genetic profiling, #Individualizing Medicine 2017, #long-insert whole genome, #Nature scientific Reports, #targeted therapies, #whole transcriptome sequencing, Advanced Cancer, center for individualized medicine, mayo clinic


June 23, 2017

Perinatal genetic screening: new technologies help parents learn more about the health of their baby

By Sharon Rosen sharonhrosen

New genomic technology is reshaping perinatal screening, which is testing before and during pregnancy to assess the health of a baby. Now pregnant women can have their baby initially screened for genetic disorders, such as Down syndrome, through the use of a newer blood test that evaluates DNA from the placenta present in the mother’s […]

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Tags: #cell-free DNA testing, #DNA analysis, #Down syndrome, #Dr. Myra Wick, #expanded carrier screening, #genetic disorders, #perinatal testing, #prenatal screening, #prenatal testing, center for individualized medicine, Genetic Testing, mayo clinic


June 16, 2017

Genetic testing helps guide diagnosis and treatment for digestive and liver diseases

By Sharon Rosen sharonhrosen

Many disorders of the digestive tract and liver can cause chronic, debilitating symptoms that begin in infancy or early childhood and require treatment to prevent the disease from progressing. Mayo Clinic is the first medical center to integrate genomic testing into personalized care plans for patients with some digestive and liver diseases. Researchers have discovered […]

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Tags: #Dr. Lisa Boardman, #Dr. Michael Stephens, #Gastroenterology and Hepatology Clinic, #gastrointestinal cancer, #gastrointestinal disorders, #gene panel testing, #Individualizing Medicine Clinic, #liver cancer, #medical resesarch, center for individualized medicine, Dr. Konstantinos Lazaridis, Genetic Testing


May 25, 2017

The patient perspective: seeking answers with genetic testing

By Sharon Rosen sharonhrosen

Many patients and their families search for years for answers to undiagnosed medical conditions, hoping for a diagnosis and treatment to help relieve often debilitating symptoms. Some of these patients may be candidates for whole exome sequencing, a genetic test that looks at the estimated 20,000 genes that may give us an answer to the […]

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Tags: #rare diseases, #rare genetic diseases, center for individualized medicine, DNA Sequencing, Genetic Counseling, Genetic Testing, mayo clinic, Teresa Kruisselbrink, whole exome sequencing


March 9, 2017

Next generation sequencing – a game changer

By 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 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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