Items Tagged ‘gene sequencing’

February 2, 2023

A rare genetic cause for a common medical condition

By Susan Murphy Susan Murphy (@susanmurphy)

By Michael Clayton Genetic testing for inherited conditions is performed on a patient’s DNA taken from either blood, saliva or, rarely, skin biopsy. This information from a person’s DNA can provide diagnostic workup of rare inherited conditions. And together with a comprehensive personal and family history, it can help patients understand how a genetic disorder may affect them and their family. Diagnosed with diabetes more […]

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Tags: center for individualized medicine, gene sequencing, genomics, personalized medicine


January 4, 2023

Advancing precision and predictive medicine in rheumatoid arthritis

By Susan Murphy Susan Murphy (@susanmurphy)

By Alumni Magazine Most patients who are diagnosed with rheumatoid arthritis respond to either the first or second line of drug therapies. However, some patients try multiple drugs without improve ment in their condition. It can take as long as two years of suffering, disease progression and expense before landing on a medication they respond to. […]

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Tags: center for individualized medicine, gene sequencing, genomic medicine, personalized medicine, Rheumatoid Arthritis


December 23, 2022

10 significant Mayo Clinic Center for Individualized Medicine Studies of 2022

By Susan Murphy Susan Murphy (@susanmurphy)

In 2022, researchers and physicians at Mayo Clinic’s Center for Individualized Medicine blazed a trail of genomic and multi-omic research and scientific discoveries. The center’s innovative investigations hold a transformative potential to predict, prevent, treat and cure diseases using individualized medicine approaches. Here’s a look back at 10 (of many) of Mayo Clinic’s influential precision medicine research […]

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Tags: center for individualized medicine, gene sequencing, genomic medicine, individualized medicine, medical research


December 22, 2022

Genetic counseling after cancer diagnosis

By Susan Murphy Susan Murphy (@susanmurphy)

By Cynthia Weiss DEAR MAYO CLINIC: I was diagnosed with ovarian cancer two months ago. My oncologist recommended that I undergo genetic testing as part of the treatment plan. Why is this recommended since I already have cancer? What is the benefit of testing? And what information will it provide? ANSWER: Genetic counseling can be an important part […]

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Tags: center for individualized medicine, DNA Testing, gene sequencing, Genetics, genomics, personalized medicine


December 6, 2022

Mayo Clinic solves genetic mystery of woman’s lifelong ultra-rare disease

By Susan Murphy Susan Murphy (@susanmurphy)

For nearly five decades, Patti Schultz’s life was defined by mysterious and debilitating health conditions that caused her to feel isolated and discouraged.   Her whirlwind of medical appointments started the day she was born, as a 2-pound preemie. Throughout her childhood, one doctor after the next was baffled by her joint pains, selective mutism, distinctive […]

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Tags: #Dr. Lisa Schimmenti, center for individualized medicine, gene sequencing, genomics, medical research


September 7, 2022

What is the benefit of visiting a genetic counselor?

By Susan Murphy Susan Murphy (@susanmurphy)

By Cynthia Weiss DEAR MAYO CLINIC: My grandmother and mother, as well as an aunt and a cousin, have had breast cancer. Another cousin was diagnosed with colon cancer recently. It has been suggested that I undergo genetic counseling to determine my cancer risk. As a young man, is genetic testing necessary for me? What benefit […]

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Tags: center for individualized medicine, DNA Testing, gene sequencing, Genetics, genomic medicine, individualized medicine


July 6, 2022

Do environmental exposures contribute to human diseases? 

By Susan Murphy Susan Murphy (@susanmurphy)

Mayo Clinic researchers put the exposome under the microscope to understand links between lifelong exposures and diseases.

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Tags: center for individualized medicine, DNA Testing, Dr. Konstantinos Lazaridis, exposome, gene sequencing, Genetics, genomics


June 21, 2022

Scientists unravel genetic mystery of rare neurodevelopmental disorder, provide definitive diagnoses to 21 families worldwide

By Susan Murphy Susan Murphy (@susanmurphy)

A collaborative team of scientists led by Mayo Clinic’s Center for Individualized Medicine has discovered 15 additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome. Symptoms of the disorder range from speech and motor impairment to behavioral abnormalities, intellectual disability and distinctive facial features.

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Tags: #neurological disorders, center for individualized medicine, Dr. Margot Cousin, gene sequencing, genomics, medical research, personalized medicine


April 19, 2022

Iftikhar Kullo, M.D. to serve on National Advisory Council on Human Genome Research

By Colette Gallagher Colette Gallagher (@colettegallagher)

Iftikhar Kullo, MD., has been invited to serve on the National Advisory Council on Human Genome Research (NACHGR) of the National Institutes of Health (NIH), by the Hon’ble Xavier Becerra, Secretary of the Department of Health and Human Services (DHHS), for a term beginning immediately and ending September 30, 2024. The Council advises the DHHS, the […]

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Tags: center for individualized medicine, DNA Testing, Dr. Iftikhar Kullo, gene sequencing, Genetics, genomics, individualized medicine, medical research


March 31, 2022

Mayo Clinic patient grateful after genetic test leads to unexpected, early detection of colon cancer

By Susan Murphy Susan Murphy (@susanmurphy)

Alejandro Mirazo, 56, never imagined his genetic test results would reveal a hereditary link to cancer, or that his findings would potentially save his life. He had participated in a preemptive DNA research sequencing study for Mayo Clinic’s Center for Individualized Medicine in fall 2021 solely to contribute to medical research. As a Mexican American, he also wanted to add diversity to Mayo Clinic’s genomic dataset.

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Tags: center for individualized medicine, DNA Testing, gene sequencing, Genetics, genomic medicine, medical research, personalized medicine


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