Science Saturday - Mayo Clinic News Network

Science Saturday: Progressive alliance advances science through patient-powered research

robinhuiras — Sat, 05 Aug 2023 10:00:00 +0000

Harnessing the power of patients’ lived experiences and their biospecimen data, a unique relationship between a nonprofit patient advocacy group called The MOG Project, a team of Mayo Clinic neurologists, and the Autoimmune Neurology Laboratory at Mayo Clinic has created a synergetic bridge that’s advancing the science behind a devastating neurological illness.

Myelin oligodendrocyte glycoprotein antibody-associated disease, or MOGAD, is a rare, central nervous system demyelinating disorder that can render an individual blind, paralyzed, or comatose.

“If there is anything I could say about the relationship, it is not one-sided,” says Julia Lefelar, executive director and co-founder of The MOG Project. “I truly believe we would not be able to help patients like we’re helping them without the support, advice, and involvement of Dr. (John) Chen, Dr. (Eoin) Flanagan, Dr. (Sean) Pittock, and Dr. (Cristina) Valencia Sanchez. They are the world authorities on this subject. I don’t think we could do what we do without them.”

For patients affected by MOGAD, accessing the expertise and world-class multi-disciplinary care provided by the Mayo Clinic neurologists and neuro-ophthalmologists who serve on The MOG Project’s medical advisory board can be life-changing.

Read the rest of the article on the Mayo Clinic Laboratories blog.

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Science Saturday: A novel testing approach for newly identified VEXAS syndrome

Mayo Clinic Staff — Sat, 08 Jul 2023 10:00:00 +0000

VEXAS syndrome is a severe autoinflammatory disease that results in a spectrum of rheumatologic and hematologic conditions. Mostly affecting men over age 50, VEXAS is caused by somatic mutations in the UBA1 gene of blood cells, which is a gene located in the X chromosome.

Until just a few years ago, patients presenting with features of VEXAS syndrome were not unified under a specific diagnosis. The underlying cause of newly identified VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was discovered at the National Institutes of Health (NIH) in 2020. A whole exome study investigated patients with an array of adult-onset inflammatory syndromes, discovering a link between previously unrelated complex disorders.

The UBA1 mutation responsible for VEXAS causes the development of painful inflammatory symptoms that can affect the skin, ears, nose, lungs, joints, and vascular system. Hematologic conditions commonly occur, including blood clots, macrocytic anemia, bone marrow abnormalities, and an association with hematologic neoplasms.

“These patients can present on either end of that spectrum with features that look like a complex inflammatory disorder or findings that may suggest a bone marrow cancer,” says David Viswanatha, M.D., co-director of the Molecular Hematopathology Laboratory at Mayo Clinic. “Once VEXAS was identified at the NIH, doctors at Mayo Clinic became very interested in this entity and were seeing patients who they suspected had VEXAS, yet we had no test available.”

Read the rest of the article on the Mayo Clinic Laboratories blog.

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Science Saturday: Specialized testing diagnoses uncommon allergy to red meat

C.J. Bahnsen — Sat, 24 Jun 2023 10:00:00 +0000

Traditionally every fall, Joseph “Joe” Ducaji, M.D., an anesthesiologist affiliated with Memorial Medical Center in Springfield, Illinois, had gone deer hunting for two to three weeks. He loved “sitting in a tree stand watching wildlife.” Recently, however, one of Joe’s hunting trips was spoiled when the night before his trip, he woke up “feeling terrible” and had to cancel the outing. Joe could only equate his illness to the steak he’d eaten for dinner the evening before. For a couple of years prior, he’d been having “gastrointestinal trouble,” particularly whenever he ate steak or other fatty red meat. Dairy products had also begun to make him feel ill.

“I thought I had irritable bowel syndrome,” says Joe, who had his gall bladder removed to address the problem. This relieved his symptoms for a time, but they eventually started coming back.

For example, one warm Sunday in October, Joe and his family enjoyed a steak dinner together outside. Following dinner, Joe prepared to go for a swim in the family’s pool. Before entering the water, however, Joe noticed hives on his arms. “I thought that was weird, but I got in the pool … and I couldn’t even swim because I was so busy scratching at the hives that were spreading,” says Joe who, unknown to him, was going into anaphylaxis.

Next came the GI symptoms, so severe that Joe describes it like being given a bowel prep for a colonoscopy. A couple of hours later he got the chills. It was then that Joe called his friend, an ER doctor at Memorial, and described his symptoms, suspecting they had something to do with the steak he’d eaten earlier in the day. Later that night, Joe’s symptoms subsided, and by the next morning, his friend had texted him information about a disease called alpha-gal syndrome (AGS). “I had never heard of it,” Joe says. “As I read what he had texted me, I thought, ‘Man, this sounds like me.’ Because it’s a meat allergy that you can obtain from a tick bite.”

Read the rest of the article on the Mayo Clinic Laboratories blog.

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Science Saturday: Blood Tube Optimization Program hails first successful project

Mayo Clinic Staff — Sat, 06 May 2023 10:00:00 +0000

Frontline staff in the Central Clinical and Central Processing Laboratories in the division of Clinical Core Laboratory Services (CCLS) made an astute observation that more tubes of blood were being collected from patients than seemed necessary. Analysis pointed to a potential benefit of new laboratory automation equipment and technology. The previous automation line in Central Processing required all tubes loaded in a rack to be the same height and serum aliquoted into cups for testing. The new automation line can accept varying tube sizes/heights and sends tubes directly to the analyzer, which reduces the amount of blood needed for testing. The lab teams seized this opportunity to make a change.

Intent on improving the patient experience, realizing supply efficiencies, and achieving cost savings for the enterprise, the lab teams enlisted the sponsorship of Drs. Nikola Baumann, Darci Block, Matthew Binnicker, Brad Karon, and administrative sponsors Adi Singh and Tim Faber. Together, an operational excellence goal emerged.

The team moved forward with its first pilot involving updating the collection and roll-up of blood volumes for 111 CCLS Rochester tests. A recent go-live on Feb. 20 included 94 test updates. Based on the post-go-live data, the results equate to a 59% decrease in blood volumes collected, which would be 1,071L/283 gallons reduction annually. Considering that the average human body has about 1.3 gallons of blood, the effect of this improvement is immense.

There was a corresponding 41% decrease in SST tubes for this project. That’s 2,891 fewer tubes per week, or $24,076 cost savings per year. No adverse effects to “quantity insufficient” (QNS), redraws, or add-ons have been detected. This not only benefits patient safety and satisfaction because less blood is collected but also conserves blood collection tubes and reduces supply chain demands.

The project evolved quickly into a program. With dedicated support, the team is forming cross-divisional partnerships across the enterprise to bring forward project ideas and pilots, all focused on blood and tube optimization. The benefits? Not only is there potential for greater patient safety and satisfaction and supply conservation, but fewer blood tubes might reduce the potential for manual errors in labeling and sample mix-ups and reduce the load on the overall system. Fewer tubes also have the potential to improve test turnaround time.

This first project is just the beginning and is considered proof of concept. There are four more projects currently getting started in the program.

Special thanks to the efforts of so many, but in particular: Dr. Binnicker, Dr. Baumann, Dr. Block, Dr. Karon, Adi Singh, Tim Faber, Sherry Boedecker, Sam Crosby, Elaine Elliott, Erin Hain, Brenda Hendrix, Sharon Johnson, BJ Krekelberg, Sara Minnich, Ryan Nett, Aaron Stelpflug, Jennifer Storlie, Chris Yoch, the Lab Test Catalog Team (Karen Kloke and Kristina Erath Pike), and the Test Implementation Service Team (Maxwell Cain, Shanna Hanson, Sean King, Melissa Rivera, Ryan Ritzer, and Kimberly Smalley).

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Science Saturday: COVID-19 — the pandemic that’s forever changed laboratory testing

Cory Pedersen — Sat, 15 Apr 2023 10:00:00 +0000

Like many people throughout the world, Matthew Binnicker, Ph.D., remembers exactly where he was and what he was doing when COVID-19 was classified as a pandemic. “Those first few months of the pandemic will be forever ingrained in my memory,” he says.

For Dr. Binnicker, director of Mayo Clinic’s Clinical Virology Laboratory, two important dates stand out above the rest. “One was Feb. 17, 2020, when Dr. (William) Morice and I were talking about whether the department should invest the resources into developing a test to diagnose COVID-19,” he says. “We of course decided that day to forge ahead with developing a novel test for COVID-19. The second date was March 12, 2020, when we first started testing for COVID-19.”

Less than one month after deciding to develop a novel test for COVID-19, Mayo Clinic delivered an accurate and rapid way to diagnose COVID-19 by building a new diagnostic test from the ground up. It was an unprecedented accomplishment that required an around-the-clock, all-hands-on-deck approach to test development.

"I remember vividly the hard work of the lab staff and the commitment of the team that was involved in developing our test for COVID-19," Dr. Binnicker says. "I remember being in the lab with members of that development team at 11, 12 o'clock at night troubleshooting and working to get that test brought up as quickly as possible."

Read the rest of the article on the Mayo Clinic Laboratories blog.

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Science Saturday: Expanding regenerative biotherapeutics to new practice areas

Susan Buckles — Sat, 11 Mar 2023 11:00:00 +0000

As a physician at the forefront of new cancer therapies, Yi Lin, M.D., Ph.D., understands the highs and lows that patients experience. Will the latest technologies slow or stop disease? If not, is this the last, best option?

Dr. Lin, a hematologist, sees the need for a new class of drugs that provides different treatment choices for patients with complex conditions, such as cancer. As the new associate medical director for Mayo Clinic's Center for Regenerative Biotherapeutics, she'll assist in delivering promising new therapies to the practice. Dr. Lin and the center's leadership will focus on accelerating biological therapies — medicines manufactured from human sources, such as cells, blood, tissue, proteins or genes. Biologics have shown potential for more targeted healing, sometimes with fewer side effects, than standard drugs.

Among her many roles at Mayo, Dr. Lin also is the medical director of the Immune Effector Cell Program in Rochester, Minnesota, and enterprise leader of Cancer Regenerative Biotherapeutics with the Mayo Clinic Comprehensive Cancer Center.

"The technology of manipulating a patient's own cells to better enable them to do what they're naturally capable of — fight disease — is very important," says Dr. Lin. "Cellular therapies show potential for more individualized treatment for patients. The first generation of such therapies are now standard of care, with a lot more research to fully realize their potential."

"Mayo Clinic is poised to be an international leader in manufacturing new regenerative biotherapeutics. I am honored and excited to work with my colleagues to bring regenerative therapies to conditions beyond cancer to new areas of the practice." ~Yi Lin, M.D., Ph.D.

Dr. Lin launched the first chimeric antigen therapy (CAR-T) cell therapy clinical trial at Mayo Clinic and has led efforts to integrate it into the practice. CAR-T cell therapy is a regenerative immunotherapy that harnesses the body's defense system by genetically modifying cells, equipping them to go on search-and-destroy missions to kill cancer.

The Food and Drug Administration has approved six CAR-T products for blood cancers. Dr. Lin and leaders in the Center for Regenerative Biotherapeutics see the need for new CAR-T therapy options that also will kill solid tumors. The long-term goal is to apply regenerative technologies to cancer and many other conditions. Priorities include:

Malignant cell therapies — such as CAR-T cell therapy.
Nonmalignant cell therapies for conditions such as diabetes.
Gene and viral therapies for treating conditions such as osteogenesis imperfecta, an inherited brittle bone disease.
Exosomes and extracellular vesicles — exosomes act like a cargo service that delivers healing messages into damaged cells. Preclinical studies of exosomes have shown potential to regenerate skin and skeletal muscle.
Tissue engineering & bioprinting. Examples would include printing nasal and larynx implants for restoring health after cancer.

Read the rest of the article on the Center for Regenerative Biotherapeutics blog.

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Science Saturday: Cross-laboratory collaboration accelerates gold-standard SRA testing

robinhuiras — Sat, 04 Feb 2023 11:00:00 +0000

At Mayo Clinic Laboratories, where teamwork powers innovation, a cross-laboratory collaboration has enabled implementation of a cutting-edge, gold standard test for a life-threatening condition known as HIT, or heparin-induced thrombocytopenia.

The test, a serotonin release assay (SRA), uses the expertise and technologies of the Special Coagulation Laboratory (SCL) and Clinical Mass Spectrometry Laboratory (CMSL) to guide physicians on making an accurate diagnosis of HIT, which is an important first step in choosing the best blood thinner for their patients.

“The only way we can be successful and stand out as an organization is the collaborative approach for the common good of the patient,” says Mayo Clinic hematologist Rajiv K. Pruthi, M.B.B.S, professor of medicine and co-director of the SCL.

Available in only a few other reference laboratories across the country, the functional SRA (Mayo ID: SRAU) ties together decades of Mayo Clinic experience in clinical hematology and hematopathology with the expertise and advanced testing capabilities of mass spectrometry. The test provides clear answers on whether patients are at risk for developing HIT, which claims the lives of nearly 10% of those who develop the condition.

Confronting a deadly disease

Since going live in mid-June, Mayo Clinic Laboratories’ SRA is on track to be ordered nearly 3,000 times annually. The popularity of the assay reflects the need for testing amongst providers when faced with the weighty decision of continuing heparin treatment in patients presenting with signs and symptoms consistent with HIT, says Anand Padmanabhan, M.B.B.S., Ph.D., associate professor and senior associate consultant in the Divisions of Hematopathology and Transfusion Medicine.

Each year millions of patients receive the blood thinner heparin for a variety of reasons, including blood clot prevention and treatment. However, more than 1% of individuals exposed to the blood thinner develop the harmful immune response.²

In those cases, the anticoagulant triggers an antibody-mediated process that activates platelets, causing patients to become hypercoagulable and at risk for life-threatening blot clots.

“It’s a disease called paradoxical thrombosis,” Dr. Padmanabhan says. “Patients may develop clotting in many parts of the body. In the legs, for example, it can lead to amputations of the toes or the entire lower part of the leg. If it occurs in other sites, like the brain, you could have a stroke. There’s a lot of morbidity associated with this diagnosis — every day, five patients die due to HIT in the U.S. alone.”

“Early recognition of HIT is extremely important,” says Dr. Padmanabhan. “The risk of a delayed diagnosis can result in a high patient mortality.”

Read the rest of the article on the Mayo Clinic Laboratories blog.

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Science Saturday: MayoComplete next-generation sequencing — Transforming comprehensive cancer care

robinhuiras — Sat, 07 Jan 2023 11:00:00 +0000

For patients facing a cancer journey, navigating diagnosis and treatment can be extremely daunting. Fear of the unknown is compounded by a confusing ocean of emerging information on discoveries and technological advancements.

While each wave of progress brings about new types of treatment, including targeted and immune therapies linked to improved outcomes, the cancer’s nuances must be understood for these pioneering treatments to work.

Laboratory testing offers crucial information to help patients traverse the shifting landscape of therapeutic options. But not all tests are created equal. And not all results provide the clarity on which to base critical decisions.

Mayo Clinic Laboratories’ newly released suite of MayoComplete hematology and oncology next-generation sequencing (NGS) panels delivers precision answers on the genetic associations of an individual’s cancer. Results from MayoComplete NGS, which evaluates for gene mutations, rearrangements, and amplifications, deepen understanding of the specific disease process to facilitate individualized treatment selection.

“Tests like these assure patients get the best cancer care, as clinicians use these results to determine the best treatment strategies based on the patient’s tumor profile,” says Benjamin Kipp, Ph.D., chair of the Division of Laboratory Genetics and Genomics. “It's really that simple. The number of therapies available are increasing and they are improving outcomes, so we want to make sure our patients receive these newer therapies when appropriate.”

Read the rest of the article on the Mayo Clinic Laboratories blog.

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Science Saturday: Aspiring to deliver new cures for complex conditions

Susan Buckles — Sat, 31 Dec 2022 11:00:00 +0000

Mayo Clinic is building toward a future when biologics can cure cancer, kidney disease and diabetes. Mayo marks 2022 as a year of significant strides in accelerating science to make and deliver regenerative biotherapeutics. The goal is to offer new options, based on rigorous research in cell and gene therapies, for disorders with few available treatments.

The Mayo Clinic Center for Regenerative Biotherapeutics has a new strategy of advancing regenerative discoveries toward early-stage clinical trials and industry collaborations.

"Pharmaceuticals at the drugstore often only address the symptoms. With biotherapeutics, we are looking for cures," says Julie Allickson, Ph.D., the Michael S. and Mary Sue Shannon Family Director of Mayo Clinic's Center for Regenerative Biotherapeutics. "We are building an advanced ecosystem of expert physicians, scientists, industry collaborators and advanced facilities to lead the way in providing a new class of medicines, especially for unmet clinical needs."

Dr. Allickson is also the Otto Bremer Trust Director, Biomanufacturing and Product Development, Center for Regenerative Biotherapeutics.

Regenerative biotherapeutics are aimed at restoring damaged tissues, cells and organs that are at the root of most diseases. Mayo's strategy emphasizes therapeutics known as biologics that are derived from human sources, such as blood, tissue, cells, enzymes, genes or genetically engineered cells. Biologics show potential for more targeted healing with fewer side effects than standard pharmaceuticals.

Read the rest of the article on the Center for Regenerative Biotherapeutics blog.

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Science Saturday: Mayo Clinic study indicates U.S. rural counties have higher diabetes-related deaths

Colette Gallagher — Sat, 05 Nov 2022 10:00:00 +0000

In a new study, Mayo Clinic researchers identified substantial health disparities in rural versus urban areas in diabetes-related deaths, with other disparities based on gender.

Using nationwide data from the Centers for Disease Control and Prevention, the researchers examined rates and trends from 1999 to 2018, in diabetes-related deaths among adults based on county urbanization, gender, age group, and region. In 2017-2018 compared with 1999-2000, diabetes-related deaths increased in men living in rural areas but decreased in women living in rural areas. Furthermore, death rates increased in adults 25 to 54 years old living in rural areas, and death rates increased in the rural South but not in other regions.

"Our goal was to examine the trends below a national level in diabetes-related deaths to guide the development of rural interventions to reduce deaths," says Sagar Dugani, M.D., Ph.D., lead author of the study. "Our results highlight the importance of exploring individual and community factors for diabetes-related deaths in rural areas."

Diabetes is a chronic condition that requires lifelong care. In the U.S., the prevalence of diabetes and access to diabetes care are affected by several factors, including residency in rural areas.

According to Dr. Dugani, the prevalence of diabetes is determined, in part, by trends in death rates. However, in rural populations, information is sparse on trends in diabetes-related deaths, thereby limiting the development of rural interventions to reduce death rates.

Read the rest of the article on the Advancing the Science blog.

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