In 2023, 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 of 2023. 

1. Mayo Clinic organoid study reveals possible key link to autism spectrum disorder

Using miniaturized human brain models known as organoids, Mayo Clinic and Yale University scientists have discovered that the roots of autism spectrum disorder may be associated with an imbalance of specific neurons that play a critical role in how the brain communicates and functions. The specific cells are known as excitatory cortical neurons. Led by  Alexej Abyzov, Ph.D., the new study, published in Nature Neuroscience, reveals an abnormal imbalance of excitatory neurons in the forebrain of people with the disorder, with variations depending on their head size. Read more.

2. Mayo Clinic research uncovers epigenetic roots of digestive disorder associated with diabetes

In a new preclinical study, scientists at the Mayo Clinic Center for Individualized Medicine have discovered insights into the root cause of diabetic gastroparesis. Published in Gastroenterology, the study, led by Tamas Ordog, M.D., zeroed in on a gene-regulating protein in the gastrointestinal tract called hypoxia-inducible factor 1α (HIF1A), which is known to help cells respond to low oxygen levels. The scientists found that HIF1A is also a key factor in regulating an enzyme called neuronal nitric oxide synthase (NOS1) within stomach nerve cells. As a result of this discovery, Dr. Ordog suggests that targeting H1F1A may be a useful therapeutic strategy. Read more.

3. Mayo Clinic researchers link ovarian cancer to bacteria colonization in microbiome

A specific colonization of microbes in the reproductive tract is commonly found in women with ovarian cancer, according to a new study from Mayo Clinic's Center for Individualized Medicine. Published in Scientific Reports and led by Marina Walther-Antonio, Ph.D. and Abigail Asangba, Ph.D., the discovery strengthens evidence that the bacterial component of the microbiome — a community of microorganisms that also consists of viruses, yeasts and fungi — is an important indicator for early detection, diagnosis and prognosis of ovarian cancer. The study also suggests that a higher accumulation of pathogenic microbes plays a role in treatment outcomes and could be a potential indicator for predicting a patient's prognosis and response to therapy. Read more.

4. Could antidepressants cause treatment-emergent mania?

In a new Mayo Clinic study, researchers have pinpointed a potential risk linked to antidepressants that boost mitochondrial energetics — a process responsible for extracting energy from nutrients to sustain cellular life. The findings suggest that such antidepressants may elevate the risk of treatment-emergent mania. The heightened energy expenditure during mania is linked to impulsivity, poor judgment, psychosis, and a loss of insight, often leading to high-risk behaviors that can result in hospitalization or incarceration. Published in Molecular Psychiatry, the study, led by Mark Frye, M.D., specifically investigated the risk of treatment-emergent mania in people with bipolar disorder undergoing antidepressant treatment. The data suggest categorizing antidepressants based on mitochondrial energetics may be of value. Read more.

5. A big step forward, bringing DNA sequencing data to routine patient care

The Tapestry study, an extensive and decentralized genomic sequencing clinical research study, aims to complete exome sequencing for 100,000 Mayo Clinic patients. The results will be integrated into the patients’ Electronic Health Record for three hereditary conditions, and the amassed data will contribute to a distinctive research dataset stored within the Mayo Clinic Cloud on the Omics Data Platform. The overall hope of Tapestry is to accelerate discoveries in individualized medicine to tailor prevention, diagnosis and treatment to a patient's unique genetic makeup. It is poised to advance evidence that exome sequencing, when applied to a diverse and comprehensive general population, can proficiently identify carriers of genetic variants that put them at higher risk for a disease so that they can take preventative measures. Read more.

6. Mayo Clinic discovery leads to diagnoses of 9 people with rare form of muscular dystrophy

Nine people around the world who have been living with unexplained, muscular dystrophy-like symptoms may now have an answer for what is causing the progressive muscle weakness in their body’s mid-section, arms and legs. In a new discovery, a collaborative team of scientists led by Eric Klee, Ph.D. has pinpointed alterations in a single gene deep inside these people's genetic blueprint as the root cause of their ultra-rare disorder, known as limb-girdle muscular dystrophy. For some, the onset of debilitating muscle-wasting symptoms began in childhood, while others started having trouble walking, running, climbing stairs and breathing in adulthood. The new study describing their discovery is published in the American Journal of Human Genetics. Read more.

7. Mayo Clinic researchers pioneer AI method to predict how cells are organized in disease microenvironments

Scientists at the Mayo Clinic Center for Individualized Medicine and Mayo Clinic Comprehensive Cancer Center have developed an artificial intelligence method, called Spatially Informed Artificial Intelligence (SPIN-AI). This new deep-learning technique can analyze the genetic information of individual cells to reconstruct the precise layout of the cells in a tissue, without preexisting knowledge of how the cells are organized.  The scientists say their findings could potentially pave the way for individualized treatments that target the specific cellular traits of each person. The new study detailing SPIN-AI is published in Biomolecules. Read more.

8. Mayo Clinic researchers identify link between gut bacteria and pre-clinical autoimmunity and aging in rheumatoid arthritis

Mayo Clinic researchers, led by Veena Taneja, Ph.D., have discovered a link between an abundance of specific gut bacteria and the triggering of an immune response against a person's tissue. The new study, published in Science Advances, reveals an immune response occurs even before the clinical symptoms of rheumatoid arthritis appear. Using a preclinical model, the researchers determined that the gut bacteria Eggerthella lenta causes an autoimmune response before the onset of the clinical symptoms of rheumatoid arthritis. In that response, the immune system produces autoantibodies that mistakenly target and attack the body's tissues and cells instead of foreign invaders, such as bacteria or viruses. Read more.

9. New gene markers detect Lynch syndrome-associated colorectal cancer, Mayo Clinic study

Researchers from Mayo Clinic Comprehensive Cancer Center and Mayo Clinic Center for Individualized Medicine have discovered new genetic markers to identify Lynch syndrome-associated colorectal cancer with high accuracy. Studies are underway to determine if these genetic markers are in stool samples and, if so, how this could lead to a non-invasive screening option for patients with Lynch syndrome. Their research, led by Jewel Samadder, M.D., was published in Cancer Prevention Research, a journal of the American Association for Cancer Research. Read more.

10. Mayo Clinic study explores heart failure, uncovers gene’s role in recovery

Mayo Clinic researchers have identified a key gene, CDCP1, linked to improvement in heart function in patients with dilated cardiomyopathy, a common cause of heart failure. The study, the first genome-wide association of its kind, reveals that a genetic variation in CDCP1 influences susceptibility to the condition and response to therapies. The gene's connection to cardiac fibrosis and the biomarker known as sST2 opens avenues for potential drug therapies targeting CDCP1 to mitigate adverse effects of heart failure. The study, led by Naveen Pereira, M.D. is published in Circulation Research. Read more.  

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