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 studies in 2022.  

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

Mayo Clinic researchers are working to accelerate the diagnoses of rare diseases and renew hope for patients whose symptoms have defied an explanation ― sometimes for years or even decades. The team of genomics experts has developed an automated system called RENEW 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.

"We're seeing dramatic growth in knowledge around what causes genetic disease, so we wanted to create a system to consistently track these discoveries," says Eric Klee, Ph.D., a Mayo Clinic bioinformatics scientist within the Center for Individualized Medicine.  Read more.

2. Mayo Clinic researchers pinpoint genetic variations that might sway course of COVID-19

Researchers at Mayo Clinic's Center for Individualized Medicine have discovered key human genomic signatures that could help explain why COVID-19 is severe in some people and mild in others. After analyzing volumes of diverse worldwide DNA sequence data, the scientists identified mutations in two human proteins that might sway the course of SARS-CoV-2 — the virus responsible for COVID-19. The study findings, published in Human Molecular Genetics, suggest a potential new diagnostic approach that is based on variation in the host cells rather than the constantly evolving virus itself.

"COVID-19 is a master of frequently changing the sequences of its genes, but that only tells half of the story. Our findings suggest that the virus’s interaction with proteins encoded by the human genome may also be a contributor to a person’s disease outcome," says Lingxin Zhang, Ph.D., the lead author of the study and a researcher in the Pharmacogenomics Program of the Center for Individualized Medicine. Read more.

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

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.

"Until now, only one genetic alteration in the KCNK9gene was known to cause the disorder, called KCNK9 imprinting syndrome. Our study describes 15 new genetic alterations," says Margot Cousin, Ph.D., a translational genomics researcher in Mayo Clinic's Center for Individualized Medicine and the study's lead author. Read more.

4. Study indicates gut microbiome, host gene affect gastrointestinal disorders

In a new study published in Nature Microbiology, researchers demonstrated the power of integrating the microbiome and host gene expression data to provide insights into their combined role in gastrointestinal diseases. The microbiome consists of all microbes in the gut including bacteria, fungi, and viruses. This study focused on bacteria.

"We identified a common set of host genes and pathways, including pathways that regulate gastrointestinal inflammation, gut barrier protection and energy metabolism that are associated with gut microbiome composition," says Ran Blekhman, Ph.D., a University of Minnesota researcher and corresponding author of the study.

5. Study involving investigators from Mayo Clinic, Baylor College of Medicine applies drug-gene testing to improve patient care and reports outcomes

In a newly published study appearing in Genetics in Medicine, investigators from Mayo Clinic and Baylor College of Medicine found that targeted genomic information can play an important role in drug prescribing practices. The results from the "Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment" (RIGHT 10K) study strongly suggest that preemptive testing could benefit nearly every patient at some point, particularly when the testing extends beyond DNA variants already known to influence drug metabolism.

"Genetic differences can affect how a person processes and responds to medications," says Liewei Wang, M.D., Ph.D., the Bernard and Edith Waterman Director of the Pharmacogenomics Program and Director of the Center for Individualized Medicine at the Mayo Clinic. "The right drug matched to a person's genetic makeup may maximize the drug's therapeutic benefit, but the wrong drug or dose may make a medication ineffective or even fatal." Read more.

6. Mayo Clinic study reveals aging speeds genomic mutations in brain

Somatic mutations naturally occur in cells throughout human development and during aging. However, it has yet to be determined whether the frequency of somatic mutations in the population are a contributing factor to the cause of neuropsychiatric disorders, cancers, and various diseases. Alexej Abyzov, Ph.D., a Mayo Clinic genomics researcher, seeks to gain a better understanding of genomic variants so that one day it will be possible to identify individual genetic risks in diseases, monitor these risks during a person’s lifetime, personalize medical treatment and improve therapy.

“We found a subset of mutations seems to be in hypermobility,” says Dr. Abyzov, lead author. “Given the association of hypermutability with age and its frequent localization in one brain region, we hypothesized that it could be related to gliogenesis in adult brains.” Read more.

7. Mayo researchers streamline genetic testing in heart failure clinic, improve clinical care

In a new study published in Genetics in Medicine, Mayo Clinic researchers streamlined genetic testing and counseling for patients with dilated cardiomyopathy, a type of heart muscle disease that causes the heart chambers (ventricles) to thin and stretch, growing larger.

"We showed that this practice intervention increased the uptake and yield of genetic testing and counseling in our Heart Failure Clinic," says Naveen Pereira, M.D., a Mayo Clinic cardiologist and senior author of the study. Read more.

8. Lab-grown ‘mini brains’ help Mayo Clinic scientists shed light on therapeutic targets for opioid addiction

Unimaginable a decade ago, Mayo Clinic scientists have developed lab-grown miniature 3D brain models out of human cells to study opioid addiction and opioid treatment response. As a result, the team has discovered changes in specific brain cells of people diagnosed with opioid use disorder when compared to those without the addiction disease.  The new study, published in Molecular Psychiatry, helps clarify a potential therapeutic target for opioid addiction and adds to the knowledge of the path to addiction. 

"This new 'mini brain' technology gives us access to study complex human brain disorders in ways we never have before," says Ming-Fen Ho, Ph.D., a stem cell biologist in Mayo Clinic’s Departments of Psychiatry and Psychology and Molecular Pharmacology and Experimental Therapeutics. Read more.

9. New AI algorithm opens avenues for knowledge discoveries

Mayo Clinic researchers have developed a new artificial intelligence algorithm that uses novel weight engineering methods to extract meaningful biological knowledge learned by AI models. In a new study, published in Frontiers in Immunology, the team applied the tool to breast cancer omics data to uncover the immune-related activities behind the clinical outcomes.

"Artificial Intelligence usually works as a black box," says lead author Hu Li, Ph.D., a Mayo Clinic Center for Individualized Medicine systems biologist. "We have no idea what 'knowledge' has been learned despite AI's amazing performance in tasks, such as sample classification of disease diagnosis." Read more.

10. Novel suppression-replacement preclinical gene therapy study shows promise in long and short QT syndromes

In a new study published in Circulation: Genomics & Precision Medicine, Mayo Clinic researchers designed and developed the first suppression-replacement KCNH2 gene therapy for correcting both long QT syndrome (LQTS) and short QT syndrome (SQTS). LQTS is a genetic heart disease that can potentially cause fast, chaotic heartbeats. These rapid heartbeats might trigger people to faint suddenly. Some people with this disease have abnormal heart rhythm-mediated seizures and sudden cardiac arrest.

"Our novel suppression-replacement gene therapy is intended to treat patients regardless of the hundreds of nonsynonymous mutations they may host that cause their specific LQT1 or their LQT2," says Michael Ackerman, M.D., Ph.D. a Mayo Clinic genetic cardiologist and director of Mayo Clinic's Windland Smith Rice Genetic Heart Rhythm Clinic and Comprehensive Sudden Cardiac Death Program. Read more.

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Tags: Artificial Intelligence, Cancer, center for individualized medicine, gene sequencing, genetic testing, genomic medicine, individualized medicine, medical research, Precision Medicine, predictive genomics, Rare diseases, Research