undiagnosed diseases

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


February 28, 2022

Young girl with rare disease gets life-changing diagnosis and targeted therapy at Mayo Clinic

By Susan Murphy Susan Murphy (@susanmurphy)

Araeya Sell, 13, has spent much of her childhood visiting her health care team and in the hospital. She has endured countless blood draws, scans, procedures and a surgery ― all in the search for answers to her complex symptoms.  After an exhaustive, nearly seven-year diagnostic odyssey, the Sells turned to Mayo Clinic.

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Tags: center for individualized medicine, Dr. Konstantinos Lazaridis, Dr. Pinto e Vairo, Genetics, genomics


February 9, 2022

Mayo Clinic develops automated system to accelerate diagnoses for patients with rare diseases

By Susan Murphy Susan Murphy (@susanmurphy)

A team of genomics experts within Mayo Clinic’s Center for Individualized Medicine has developed an automated system for tracking new scientific knowledge from around the world of pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases.

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Tags: center for individualized medicine, Dr. Alejandro Ferrer, Dr. Eric Klee


December 28, 2021

10 Significant Mayo Clinic Center for Individualized Medicine studies of 2021

By Susan Murphy Susan Murphy (@susanmurphy)

It has been an impactful year of genomic and multi-omic research and scientific discoveries in Mayo Clinic’s Center for Individualized Medicine. While much focus in 2021 was centered on advancing the knowledge of COVID-19, Mayo scientists and physician have also worked to develop individualized treatments, prevention measures and diagnostics for patients with rare and undiagnosed diseases, cancer and other illnesses. 

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


November 4, 2021

Mayo Clinic joins Rare Disease Centers of Excellence network to advance care for people coping with mysterious illnesses

By Susan Murphy Susan Murphy (@susanmurphy)

Mayo Clinic has joined a new Rare Disease Centers of Excellence network, which consists of a select group of 31 medical centers across the U.S. This network, which is led by the National Organization for Rare Disorders (NORD), seeks to: Promote knowledge sharing between experts across the U.S. Connect patients to appropriate specialists, regardless of […]

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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


December 24, 2020

2020 Mayo Clinic Precision Medicine Advances

By Susan Murphy Susan Murphy (@susanmurphy)

This year, Mayo Clinic’s Center for Individualized Medicine was at the forefront of COVID-19 research, working to unravel the complexities of the virus in order to discover life-saving treatments and prevention — from testing to building a pandemic response biobank to identifying COVID-19 strains within individual patients. But even in the midst of the pandemic, […]

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Tags: #Artificial Intelligence, Cancer Research, Genetics, genomics, individualized medicine, multi-omics, Research


January 21, 2020

Patient’s premature aging symptoms tied to shorter DNA strands

By Colette Gallagher Colette Gallagher (@colettegallagher)

At only 27-years-old, Morgan Cook recalls the days when she had an abundant amount of energy. “I would lift weights. I would do cardio. I would – you name it, I would do it. I was a lot more active,” says Cook. “I felt like I was able to do more things with friends. I […]

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Tags: #Mrinal Patnaik, center for individualized medicine, Genetics, genomics, hematology, hyperextensible joints, low blood count, mayo clinic, premature aging, short telemores syndrome


January 9, 2020

Mayo Clinic to sequence 100K participants to build genomic database for improved care and research in collaboration with Helix

By Colette Gallagher Colette Gallagher (@colettegallagher)

Mayo Clinic is creating a library of genomic sequencing data on 100,000 consented Mayo Clinic participants to advance research and patient care. “We believe that whole exome sequencing has the potential to reveal predispositions to health problems and enable earlier use of preventive measures throughout a person’s lifespan,” says  Keith Stewart, M.B., Ch.B., Carlson and […]

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December 11, 2019

In a first, researchers sequence single bacterial cells, paving path for rapid sepsis test

By Susan Murphy Susan Murphy (@susanmurphy)

For the first time, Mayo Clinic researchers are sequencing the genomic contents of single bacterial cells. The technique may pave the way for a potential lifesaving test for sepsis, a serious and sometimes deadly condition caused by the body’s response to an infection. Rather than waiting for days to identify the source of a patient’s […]

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Tags: #sepsis, bacteria, bacterial cells, Genome Sequencing, individualized medicine


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