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Mon, Jan 13 6:00am · Top ways regenerative medicine is advancing the health care of tomorrow for patients today

Regenerative medicine accelerated from the bench into the practice in new ways in 2019, ushering in an era of care focused on the body’s amazing ability to heal itself. Bolstered by robust research, Mayo Clinic is at the forefront of delivering new therapies that restore form and function to diseased cells, tissues, or organs — and ultimately to the individual as a whole. 

Andre Terzic, M.D., Ph.D.

“The regenerative toolkit keeps on expanding concomitantly, and applications of regenerative medicine into practice is increasingly broadening to more conditions that benefit more patients. Across Mayo Clinic sites and specialties, from neurosurgery, neurology, otorhinolaryngology, pulmonary medicine, cardiology and cardiac surgery to cancer and musculoskeletal care, women’s health and plastic surgery, medicine, laboratory medicine and radiology, this year has seen remarkable achievements,” says Andre Terzic, M.D., Ph.D., director of Mayo Clinic Center for Regenerative Medicine. 

Redefining health care

Regenerative medicine is redefining clinical care, going beyond mitigating disease symptoms to addressing the underlying cause. Mayo Clinic aspires to cure, connect and transform through new regenerative therapies grounded in rigorous science and in line with regulatory standards for quality and compliance.

Within the next decade, regenerative medicine is predicted to account for 10% of all clinical care. As a prelude to the years to come, Dr. Terzic points to inspiring examples that have highlighted regenerative care in 2019 at Mayo Clinic:

Regenerative immunotherapies are transforming cancer care

Mayo Clinic is one of a few select medical centers in the United States to provide chimeric antigen receptor (CAR) T-cell therapy  in a clinical setting.  CAR T-cell therapy unleashes the body’s immune system to go on search and destroy missions, targeting blood cancers, particularly B-cell leukemias and lymphomas.  In the past year, the number of clinical trials involving CAR T-cell therapy has doubled; there are two newly approved drug options offered for leukemia and lymphoma; and additional new therapies are expected to clear U.S. Food and Drug Administration approval in early 2020.

Neurosurgery is offering new hope for spinal cord injury

Early research at Mayo Clinic shows that stem cell intervention in the lumbar, or lower back, offers hope for people paralyzed from spinal cord injury. A Mayo Clinic case study found mesenchymal stem cells derived from a patient’s own fat injected after standard surgery and physical and occupational therapy restored bodily function in the first person tested. The patient, a 53-year-old man paralyzed in a surfing accident, has shown significant gains in standing, walking and gripping strength.

A second surgical procedure is referred to as spinal cord bypass.  An implanted stimulator bypasses the area of spinal injury, restoring the body’s ability to send messages to and from the brain.  Mayo Clinic research has shown this type of spinal cord stimulation helped a man paralyzed since 2013 regain ability to stand and walk with assistance, regenerating information flow around the severed lesion.

Larynx and lymph node transplant: breakthroughs in regenerative surgery

medical illustration of larynx transplant, empty throat and one with newly transplanted parts

Mayo Clinic launched a first of its kind transplant program in its Arizona Otorhinolaryngology practice to restore function for people that have had their larynx, or voice box, removed.  The United Network for Organ Sharing (UNOS) has given its first approval for this procedure to Mayo Clinic. A successful larynx transplant allows a patient to breathe through the mouth, swallow normally and produce a human-sounding voice instead of breathing through an opening in the neck and communicating by machine or special prosthesis.

“This formidable achievement underscores the collective ability of Mayo Clinic to not only advance innovation but to do it in a way that is systematic and meets the highest stringency for bringing a concept into the practice,” says Dr. Terzic.

Concomitantly, in Plastic Surgery, lymph node transplants are showing promise as a therapy for lymphedema — a painful blockage of the lymph system that causes fluid buildup commonly seen in patients treated for breast cancer. Healthy lymph nodes are transplanted to replace the diseased counterparts, promoting regrowth of the lymph system.  

New procedures in maternal fetal medicine enable correction before birth

Initially it was thought that regenerative medicine would mainly address issues related to diseases of aging. However, research at Mayo Clinic increasingly shows that regenerative medicine interventions can tap the strong healing abilities of a young child or even be beneficial prior to birth.

Two recent examples of fetal surgeries led by a Gynecology and Obstetrics specialist and performed at Mayo Clinic through U.S. Food & Drug Administration-approved clinical trials include:

Fetal endoscopic trachea occlusion surgery  which seeks to correct underdeveloped lungs caused by severe congenital diaphragmatic hernia (CDH) — a condition in which internal organs push up against developing lungs, stunting growth. Without this surgery, 70% of infants born with severe CDH die. The surgeon places a balloon in the fetus’s trachea, causing the lungs to regrow and expand enough for the baby, at birth, to eventually breathe without assistance.

Minimally invasive fetoscopic repair of spina bifida  is another procedure under clinical assessment done in the second trimester of pregnancy to repair a birth defect that occurs when the spine and spinal cord don’t form properly.

Areas of advancements to watch in 2020

  • Regenerating organs for transplantation — Research at Mayo Clinic’s Florida campus will seek to address the shortage of donor organs by regenerating or rebuilding the health of organs previously considered not viable for transplantation.  
  • Biomanufacturing new products that promote healing — Mayo Clinic has a targeted investment in biomanufacturing of new cellular, acellular and tissue products that offer patients new options for healing. Opportunities to scale production for increased accessibility, affordability and cure rates are prioritized.
  • Educating the workforce of the future —Mayo Clinic is training the next generation of physician-scientists through regenerative medicine curricula that transcends the educational shield. Efforts are underway to develop a dedicated regenerative science track at the graduate school level and to train all medical students to become proficient in regenerative medicine.
  • Developing industry collaborations to speed new therapies to market —Mayo Clinic is forging new industry collaborations to bring to market new regenerative therapies for the benefit of patients around the world.

“It is an exciting time as regenerative medicine applications continuously expand across disease conditions,” says Dr. Terzic.  “Regenerative medicine is driven by patients seeking regenerative solutions. Therefore, we have a moral and societal mandate to ensure the validity and ultimately the utility of these newest therapies.”

Mayo Clinic will continue to advance its regenerative care  toolkit to address unmet needs of the patient  and to advance Mayo Clinic’s vision  to “cure, connect, and transform” health care in 2020 and beyond.


Dr. Terzic is the Michael S. and Mary Sue Shannon Director, Mayo Clinic Center for Regenerative Medicine, and Marriott Family Professor in Cardiovascular Diseases Research.

This article first appeared on the Center for Regenerative Medicine blog.

Nov 7, 2019 · Zane's story: Fetal surgery to expand lungs

Zane Fouts with parents Trevor Fouts,
Alyse Ahern-Mittelsted

Baby Zane Fouts’ boundless curiosity starts at his feet, which he grabs and plays with happily. The energetic boy who’s full of smiles is a trailblazer for regenerative surgery performed in a clinical trial at Mayo Clinic even before birth.

“He’s our miracle baby,” says his mother, Alyse Ahern-Mittelsted.  “He’s a rock star.”

Ahern-Mittelsted was 20 weeks pregnant when an ultrasound showed Zane had severe congenital diaphragmatic hernia (CDH). This life-threatening condition blocks lungs from growing enough for babies to breathe on their own. Without intervention, 70% of infants born with severe CDH die. The bombshell news came less than a year after Ahern-Mittelsted unexpectedly lost a daughter at 31 weeks of gestation to a different condition — a failed placenta.

“We thought we were going to lose another baby. We were really scared.”

CDH is a hole in the muscle separating the chest and abdomen. That causes the spleen, stomach and bowels to push up into the chest cavity and stunt lung growth. The result is small, underdeveloped lungs, known as pulmonary hypoplasia.  It’s a rare condition that affects 1 in 10,000 babies.

To try to save Zane’s life, Rodrigo Ruano, M.D., Ph.D., head of Maternal and Fetal Medicine at Mayo Clinic, recommended fetal endoscopic trachea occlusion surgery while Zane was still in the womb.

Rodrigo Ruano, M.D., Ph.D.

“It’s a delicate procedure. We insert a 3-to-4 millimeter telescope through the mother and into the fetus. We advance a balloon into the baby’s mouth and detach it from a catheter placed insidethe trachea, which is the airway of the fetus. The goal of this surgery is to regenerate and expand the lungs,” says Dr. Ruano.  “I feel so passionately about this surgery that I have dedicated my life to moving it toward standard of care treatment.”

When the balloon inside the fetus’ trachea inflates, it fills the lungs with fluid, potentially causing the lungs to expand and grow. Because a fetus breathes through the placenta, the balloon does not choke the baby.

Dr. Ruano is pioneering this procedure at Mayo Clinic through U.S. Food and Drug Administration (FDA) -approved clinical trials with support from the Mayo Clinic Center for Regenerative Medicine and a grant from Regenerative Medicine Minnesota.

While the surgery shows promise, it also comes with risk of preterm labor and delivery. That meant the young couple from Cresco, Iowa, had a decision to make about the health of their unborn child.

“We were told that without the surgery, our baby would only have a 25% chance of ever coming home. With the surgery, the chances jumped to 75%,” says Ahern-Mittelsted. “We knew there was a chance this surgery might not work. But, if this was going to give our son the best chance of survival, I wasn’t going to second guess it.”

“After the doctor told us our options, I was looking for more information (to help make a decision.) I looked online, but this procedure is so new, there wasn’t a lot about it. I had to put my faith and trust in our surgeon,” says Trevor Fouts, Zane’s father.

Surgery to place the balloon inside Baby Zane’s trachea was performed at 27 weeks under local anesthesia and took only about 15 minutes.  

“When they were going to place the balloon, they had to move the baby and place him in the right position. That was painful for me, but it went fast,” she adds.

The balloon was removed at 34 weeks of pregnancy, and Zane was born full-term at 39 weeks. How well a baby with Zane’s condition does at birth depends on development of the lungs. Some babies whose lungs successfully grow and develop may recover with few lingering medical issues. Others whose lungs do not respond as well may have mild to long-term handicaps.

Immediately after birth, a breathing tube was placed in Zane’s airway and he was connected to a ventilator. But, he was only on machine-assisted breathing for a couple of weeks.

The balloon surgery expanded his lung capacity by about 60%. After 52 days in the Neonatal Intensive Care Unit, he had improved enough to go home.

Zane Fouts

“Without this procedure he likely would not have been as healthy as he is now.  He still has a raspy voice and has a tough time with coughs. Eventually, we expect him to live a normal life with normal activities.  We think he’ll be able to participate in sports, although he may need an inhaler,” says Ahern-Mittelsted.  “I believe this surgery pretty much saved his life.”

Dr. Ruano has performed a total of five fetal endoscopic trachea occlusion surgeries so far at Mayo Clinic. His research team is compiling the data to establish whether this surgery improves chances for survival and reduces recovery time. The long-term goal is to secure FDA approval of the balloon used in the procedure so this surgery can be offered in daily clinical care.

Read about Dr. Ruano’s research on fetal endoscopic trachea occlusion surgery.


Sep 17, 2019 · Mayo Clinic Startup Earns World Economic Forum Award

With the promise of potential lifesaving treatments like chimeric
antigen receptor (CAR) T-Cell therapy
comes complex challenges. For instance:
how can we be sure the right cells are going to the right patient? How can we communicate
problems with manufacturing that would affect a patient’s treatment schedule?

To address those concerns, Mayo Clinic startup company Vineti developed first-of-its-kind software package
tracking for cell therapies. The software meticulously monitors quality control
during every step of the cell’s journey from extraction to infusion. Vineti’s groundbreaking
product captured a World Economic
Forum Technology Pioneer Award
in the field of health. Given to early stage
companies, this award recognizes new technologies and innovations poised for
significant impact on business and society.

Andrew Danielsen

“Creating new products is an additional way that Mayo Clinic
can improve patient care.  It’s a way to
amplify our staff’s talent in terms of meeting the needs of a large number of
patients. A single drug, one diagnostic test or one piece of software could positively
affect tens of millions of patients,” says Andrew Danielsen, chair of Mayo Clinic Ventures. “Having one of
Mayo Clinic’s startups win this award is a validation of our staff’s work to
bring a very innovative product to market.”

Vineti’s software reflects a new era of complex care delivered
at Mayo Clinic. Before CAR T-cell therapy, cell processing was typically done within
the treating institution. For CAR T, cells are shipped to an outside pharmaceutical
company where they are genetically modified with potential power to kill

Yi Lin, M.D., Ph.D.

“This adds a new layer of complexity to cell processing that
we have not had in the past,” says Yi
Lin, M.D., Ph.D.
, a hematologist who is the Chair of the Cell Therapy
Cross-Disciplinary Group at Mayo
Clinic Cancer Center
who collaborated on the Vineti software. “Mayo Clinic
is a Center of Excellence in delivering CAR-T therapy. Our team is acutely
aware of the impact of innovative software on improving patient care.  We are happy to share our expertise with
Vineti to enable the optimization of their software that brings together different
groups to ensure safe and timely delivery of cells to the right patient.”

Allan Dietz, Ph.D.

Mayo Clinic Cancer Center and the Department
of Laboratory Medicine and Pathology
 Immune, Progenitor, and Cell Therapeutics Lab
(IMPACT) collaborated on the software.  Mayo Clinic Center for Regenerative Medicine provided
support. The research for this software was done within the IMPACT laboratory,
Therapeutic Apheresis Treatment Unit (TATU) and the division of Hematology, as
part of the effort to improve cell therapies for patients. Key innovators are Allan
, Ph.D., Dr.Lin, and Jeffrey
Winters, M.D.

“This award demonstrates the importance and transformative
nature of cell-based therapies for our patients. It is also a great example of
leadership role of innovation and application that the IMPACT lab and
transfusion medicine is having at Mayo and around the world,” says Dr. Dietz.

Jeffrey Winters, M.D.

“CAR T therapy is a rapidly growing treatment which is
critical for the treatment of a variety of patients who have no other options. The
Vineti software ensures that appropriate quality controls are in place for the
therapies to ensure patient safety. The award recognizes their critical role in
this area,” says Dr. Winters.

The software is also used to track cell processing for a
range of other conditions, including rare genetic blood disorders. Cell therapy
is being pursued in a wide range of serious disorders, including cardiac and
inflammatory conditions.

Vineti began as a collaboration between Mayo Clinic and GE
Ventures. Mayo Clinic has retained an ownership stake in the company. Any
revenue generated is reinvested in Mayo Clinic research and education.

May 29, 2019 · Sudden Cardiac Death: Defining the Risk for Surviving Relatives

Article by Barbara Toman

A young person’s sudden death from cardiac arrest is doubly devastating. Just when family members are mourning the unexpected loss, they might also be wondering if tArhe cause was inherited heart disease — and if they too are at risk.

there’s no easy answer. Unlike certain cancers with strong links to a single
gene abnormality, cardiovascular disease is associated with complex genetic
factors. Blood relatives of people who experienced sudden cardiac death can
face a lifetime of uncertainty and annual medical imaging to detect any signs
of heart disease.

With support from the Center for Individualized Medicine, Mayo Clinic is conducting research to find answers.

Maleszewski, M.D.

“Surviving family members don’t know if they are at risk for a heart condition, if they should change their lifestyle such as not engaging in certain types of athletics— they’re just stuck,” says Joseph Maleszewski, M.D., a Mayo Clinic pathologist specializing in cardiovascular disease. “We’re trying to elucidate the underlying genetic implications for these family members. We want to help them manage diagnostic screening and get the care they need right now.”

unexpected death from cardiac arrest accounts for 12% to 15% of natural deaths.
Up to half of people under age 35 who experience sudden cardiac death had no
family history of it and no warning signs of heart disease, according to the
National Society of Genetic Counselors.

in partnership with the Windland Smith Rice Sudden Death Genomics Laboratory
& Long QT Syndrome Clinic, Mayo Clinic’s research involves postmortem
analysis of the hearts from people under age 40 who died suddenly of presumed
cardiac causes, and genetic testing of first-degree relatives—parents, siblings
and children. “We believe it’s absolutely necessary to combine these two
approaches in order to give the family information that’s much more useful than
what they would get from either approach alone,” Dr. Maleszewski says.

Subtle signs that lead to answers

common challenge for family members is incomplete information about the cause
of a relative’s sudden death. An autopsy might establish that the person died
of natural causes but fail to identify a specific cardiac disease or its
genetic underpinning.

believe some cases of sudden cardiac death are very subtle manifestations of
cardiomyopathy, or heart muscle disease. The features of cardiomyopathies are
sometimes very difficult to detect, even by experienced medical examiners and
coroners,” Dr. Maleszewski says.

postmortem examinations conducted by Mayo Clinic cardiovascular pathologists will
evaluate each heart’s overall appearance and analyze tissue sections under the
microscope. If cardiomyopathy is suspected, genetic testing will be recommended
for first-degree relatives.

who test negative for genetic variants associated with heart disease can avoid
routine imaging. For family members who do have a genetic variant, risk-management
plans can be developed.

think this is a much more scientific and comprehensive approach to cases of
sudden death,” Dr. Maleszewski says. “Instead of a 20th-century
screening paradigm, we want a 21st-century pairing of postmortem examination and
genetic testing.”

That pairing
is key. “There’s a lot of nuance in the understanding of cardiovascular disease.
Our interpretation of the genetic tests is completely contingent on
establishing with our eyes that there is some type of underlying pathology in
the heart,” Dr. Maleszewski says. “We can then give information to
the family that empowers them to obtain efficient screening and to have
complete closure.”

common challenge is a lack of genetic information about the deceased relative.
Postmortem blood samples are stored for a limited time — due to cost and space
constraints experienced by medical examiners — and so often aren’t available
for genetic testing.

Clinic has developed a unique genetic test that uses tissue samples preserved
in paraffin. Unlike blood samples, those tissue samples are often kept by
medical examiners for several years to meet accreditation requirements.

use this tissue-based genetic testing routinely. It opens up a lot of older
cases for possible interrogation,” Dr. Maleszewski says. “For
example, if a Mayo cardiologist sees a patient whose father had cardiac death
at a young age, we can obtain the father’s tissue samples, examine them and
then determine if genetic testing should be done to assess the son’s risk.”

accumulated will also provide insight into the complex genetic variations that
can cause heart disease.

we hope that for every case of sudden cardiac death, there can be a complete
workup of the heart and the genetics,” Dr. Maleszewski says. “We’d
like to help educate medical examiners and coroners on how to perform a thorough
cardiovascular exam to look for these subtle signs of disease, and to give them
access to expert consultation when they need it.”

Clinic’s study is being conducted through medical examiners and coroners who
refer new cases of sudden death in which a cardiac cause is strongly suspected.



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May 7, 2019 · Rare, undiagnosed diseases are relatively common

As many as 25 million Americans – about 1 in 13 people – suffer from a rare, undiagnosed condition.* April 29 was designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained conditions. Mayo Clinic Center for Individualized Medicine brings together a team of experts, the most sophisticated genomic testing and worldwide research to solve complex, undiagnosed cases,

Genetic sleuthing of puzzling cases

The Human Genome Project the
first mapping of a person’s genetic blueprint has
unlocked mysteries of rare diseases that for ages bewildered medical science. Completed
just 16 years ago, the Human Genome Project has ushered in a new era of
individualized medicine that has significantly advanced the ability to diagnose
rare, genetic diseases.

The Center for Individualized Medicine’s experts,
who make up the Genomic Odyssey Board, consult clinical findings, DNA testing and
research to solve rare disorders. Patients come from around the world seeking a
diagnosis. DNA testing offers a genetic trail of clues that sometimes leads
researchers and clinicians to a scientific pot of gold: a diagnosis that no one
else has been able to make. Even if there’s not a treatment, having a diagnosis
can be life changing. Patients can stop spending time and money visiting
countless health care providers in search of answers.

Mayo Clinic has been able to diagnose
approximately 30 percent of patients with unexplained genetic disorders. The
Genomic Odyssey Board would like to close the gap on the other 70 percent of
cases that go unsolved, and advancements in tools offer hope for a better
success rate.

Dr. Heidi Rehm:  Data sharing brings new answers for everyone

The promise of DNA sequencing also brings the
challenge of interpreting big data. Consider this: sequencing one patient’s
genome generates data so massive that if stacked end-to-end, it would reach
from earth to the moon. Finding disease-related genetic variants within those
results can be like looking for a needle in a haystack.

Heidi Rehm, Ph.D., a geneticist and genomic medicine researcher at the Broad Institute Chief Genomics Officer at Massachusetts’s General Hospital and Professor of Pathology and Harvard Medical School, has called for broader knowledge sharing of disease-related variants in order to zero in on disease-causing genes.

Dr. Rehm, who presented at the 2018
Individualizing Medicine Conference, says databases where researchers and
clinicians share information about genetic variants, interpretations and
evidence linking genes to specific health care disorders, have greatly advanced
understanding of rare, genetic diseases.

Heidi Rehm, Ph.D.

“It’s a
combination of crowd sourcing the challenge, sharing the evidence, identifying
when we might view evidence differently, and validating the findings,” says Dr.
Rehm. “If we’re really going to
integrate genetics into the practice of medicine, we need to ensure that the
information we are returning to patients is valuable and accurate. We need
resource sharing across the community to do that.”

Dr. Rehm identified three key genomic data
sharing sites that are improving the chances of finding a diagnosis:

  • ClinVar
    a variant database where laboratories and research groups share interpretations
    of rare disease-related variants.
  • ClinGen
    a large NIH program that develops standards and assembles
    experts to compile and review evidence and for assessing the role of genes and
    variants in disease.
  • Matchmaker
    – a platform for building evidence for genes
    implicated, but not proven to be linked to disease.

from data sharing sites helped establish best practices in genetic and genomic
testing, leading to more reliable and consistent results.

“This means patients are more likely to have
their disease-causing variants identified as causal rather than classified as a
variant of uncertain significance. As a result, they are more likely to get an
accurate and consistent diagnosis that stands up to testing from multiple
labs,” says Dr. Rehm.

Dr. Eric Klee: New tools and new technology on the horizon

Mayo Clinic is developing computer software
that would analyze genetic data from unsolved cases in which the trail has gone
cold. The software program would send alerts when new research reveals
understanding of a gene that could crack a case.

Eric Klee, Ph.D., associate director of the Mayo Clinic Center for Individualized Medicine Bioinformatics Program, envisions a tool that would constantly update former variants of unknown significance, going back to the very first unsolved cases analyzed five or six years ago.

Eric Klee, Ph.D.
Eric Klee, Ph.D.

“We are in a unique time frame in the history of mankind in that we are learning exponentially more all the time about genetic disease. What we know today is so drastically different from what we knew even a year ago,” says Dr. Klee. “Tools that allow us to automatically go back and analyze cases in terms of new knowledge are going to be very important.” 

Dr. Klee, who also presented  at the 2018 Individualizing Medicine
Conference, envisions new tools that would broaden data sharing to include both
genotype (genetics) and phenotype (visible characteristics such height, eye
color, overall health status and disease history) in a centralized, worldwide database.

“That unleashes the power of experts from
around the world to solve rare cases rather than just from one institution,”
says Dr. Klee. “The ability to learn and diagnose would be significantly

On the technology side, Dr. Klee predicts whole
genome sequencing
which covers all a person’s DNA will
replace the current practice of sequencing only the known disease causing
genes. That will give investigators additional information on how changes
within the genetic blueprint might be causing disease. He believes RNA
sequencing, which reveals defects within the genes, will also be increasingly
used. That may improve the solve rate for patients who are seeking a diagnosis
after suffering for years from an unknown disease.

*National Institutes of Health

This article originally was published on the Center for Individualized Medicine blog on April 16, 2019.

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, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.

Apr 23, 2019 · Testing the bugs within to maintain health, detect and treat disease

Article by Sharon Rosen

Purna Kashyap, M.B.B.S.

The use of microbiome testing – which analyzes the trillions of bacteria in and on the body – is on the move. It’s going from the research lab into the clinic to help guide patient care. DNA testing technologies have revolutionized researchers’ ability to identify individual bacterial strains driving disease. Now genomic testing is helping diagnose the source of infections, develop personalized diets, find new treatments for functional and inflammatory conditions of the gut and identify new screening tools for certain cancers.

For Purna Kashyap, M.B.B.S., this is just the beginning. As the Bernard and Edith Waterman co-director for the Mayo Clinic Center for Individualized Medicine Microbiome Program, Dr. Kashyap envisions the coming years as a pivotal time for moving the latest discoveries from the lab to new diagnostic tests and individualized microbiome-based therapies for patients.

“Just as genomics plays a key role in personalized medicine, the microbiome also affects our individual health – boosting our immune system, helping us digest food and influencing how we respond to medications. We are each born and live with a unique microbiome. But unlike our genes, the microbiome can be manipulated and changed. That’s why physicians need to consider the role of the microbiome, along with genetics and other factors, especially when treating patients with complex diseases like autoimmune disorders, gastrointestinal diseases, diabetes, obesity and many types of cancer,” says Dr. Kashyap.

Technologies developed in the lab provide answers in the clinic

A high fever, increased blood pressure and rapid heart rate – these are all symptoms that could be caused by an infection. But for some patients, traditional blood tests fail to identify the source of the illness. That’s where microbiome testing technologies developed in the laboratory are already helping to find answers for Mayo Clinic patients. Within a day and in some cases just hours, the testing is revealing the source of a previously undiagnosed infection, allowing for treatment with targeted therapies.

“We can now identify the specific bacteria causing serious infections even though we are not able to culture them” says Dr. Kashyap.

Test results can help physicians choose targeted therapies to treat infections and avoid the use of “dynamite” antibiotics explains Dr. Kashyap.

“Genomic testing allows us to select specific therapies to kill only the bacteria causing the infection, rather than prescribing an antibiotic that eliminates all of the gut bacteria, leaving the patient susceptible to other illnesses,” says Dr. Kashyap.

Next steps – identifying biomarkers to predict, diagnose and treat disease

To expand the use of microbiome testing, Dr. Kashyap and his colleagues are collaborating with the Center’s Clinomics Program to integrate microbiome testing into patient care as well as clinical trials. Their goal is to identify microbiome biomarkers that could be used to develop screening tests to detect early signs of disease or new individualized therapies, tailored to a person’s microbiome.

Going forward, microbiome testing may also provide important information about disease risk for healthy patients.

“This testing could provide healthy patients with information about disease risk and help define steps they can take to manage their health,” says Dr. Kashyap.

Eat this, not that – personalized diets

Dr. Kashyap and his colleagues have recently tested a model that successfully predicted changes in blood glucose (sugar) levels based on an individual’s age, lifestyle habits and microbiome.

“With the model, we can manage blood sugar levels by changing diet to match the microbiome rather than trying to change the microbiome which may take time”” says Dr. Kashyap.

Dr. Kashyap and his team have also uncovered a link between a person’s microbiome and their ability to lose weight.

“In a pilot study, we found that after switching to a lower-calorie-diet rich in fruit and vegetables, some people were able to lose weight more easily than others due to the type of bacteria in their gut.”

Learn more about the team’s research here.

Matching research to patient needs – a focus on gut health

Throughout his career as a gastroenterologist, Dr. Kashyap has focused on conducting research to meet the needs of his patients.

He has explored how gut bacteria control normal gut function and contribute to the development of gastrointestinal disorders, such as irritable bowel syndrome.

In addition, he has investigated how bacteria lead to opportunistic infections that can become life threatening, such as c. difficile, which can occur after a patient has had a prolonged stay in a hospital or nursing facility. The Mayo team has used new treatment approaches, including fecal transplants, to restore these patients’ gut microbiome with healthy bacteria.

“Some patients have a microbiome composition that makes them more susceptible to c. difficile infection. We are working on strategies to prevent the infection as well as develop a treatment with a bacteria-containing pill.”

For Dr. Kashyap, these research efforts are just the tip of the iceberg. “As we learn more, we’ll be able to offer patients better screening and treatment for a wide range of diseases, tailored to their unique needs.”

Pushing the envelope to uncover causes, new treatments for colorectal cancer

Read the related article, highlighting Microbiome Program co-director Nicholas Chia, Ph.D., and his research to uncover early signs of colorectal cancer to improve screening and treatment for the disease.


This article originally appeared on the Individualized Medicine blog on April 2, 2019

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Apr 10, 2019 · Genetic testing reveals risk, steps to prevent aortic dissection

Article by Sharon Rosen

Stephanie Van Doren and her family

Stephanie Van Doren never realized that taking 30 mile bike rides in the Florida heat was putting her life at risk. But, care for digestive problems also uncovered that she was at risk for an aortic dissection, a potentially fatal condition that could occur with intense exercise. Her care team at Mayo Clinic’s campus in Florida quickly connected the dots. Her family history and physical exam painted a picture that pointed to a hereditary condition. They recommended genetic testing and the results provided lifesaving information to Van Doren and her family.

Unraveling a medical mystery through genetic testing

Sarah Macklin

Van Doren met with Sarah Macklin, a genetic counselor in the Department of Clinical Genomics and Center for Individualized Medicine.

During the first appointment, Macklin mapped Van Doren’s family medical history for three generations. They also discussed the benefits, risks, and limitations of testing, and what steps could be taken if any of the tests came back positive.

Van Doren had testing to explore two questions: did she have any identifiable genetic risk factors that significantly increased her risk of having a thoracic aortic aneurysm and aortic dissection? Did she have any identifiable genetic risk factors that significantly increased her risk for breast cancer since her sister had died from the disease at a young age?

Results showed that she did have the genetic risk factor for aortic dissection, but did not have a genetic risk identified for breast cancer.

“I was devastated that I was at increased risk for aortic dissection. This runs deep in my family and I had seen firsthand how it has affected my relatives,” she says.

Many members of Van Doren’s family had an aortic dissection at a young age. The condition can be life threatening and occurs when the inner layers of the aorta, the large blood vessel branching off the heart, tear.

As a result, she and her family decided that her children should also have genetic testing. They met with Macklin to learn more about the process and implications.

“This second conversation is much different than the first,” explains Macklin. “We now are looking for a particular genetic variant that has been identified in a parent or other family member. We take time to explain to children – in terms that they can understand – what we are looking for, why we are looking for it and what it will mean if the test comes back positive.”

“It’s very important to be honest with children so they can understand and agree to have the testing, even if they are not old enough to give the consent themselves.”

Two of Van Doren’s three children have the gene variant linked to aortic dissection. She received these results first and then shared them with her children.

“It was important for me to have time to process the results myself and then explain them to my children,” she says.

Macklin also shared the genetic test results with Mayo specialists in Cardiovascular Medicine who are providing Van Doren e and her children with the monitoring and follow up care they need to stay healthy.

“Never did I imagine that I would have genetic testing, but thankfully I did – the results probably saved my life and will help my children live a healthier life.” she says. “It’s difficult to learn that you are at risk for such a serious condition. But now we have the information we need to be proactive and stay healthy.”

Know and share your family medical history with your health care team 

Timothy Woodward, M.D.

Van Doren first came to Mayo seeking relief from digestive problems. It was her gastroenterologist, Timothy Woodward, M.D., who first recognized that her family history plus characteristics he observed during her physical exam pointed to the possibility that she had a hereditary condition.

“Ms. Van Doren did what we hope all patients will do – know and share their family medical history with their physicians,” says Dr. Woodward. “This information plus a complete clinical evaluation allows us to provide patients with individualized care, tailored to their needs.”

Moving forward – living life to the fullest

“I have always led a very active lifestyle – enjoying skydiving and leading group fitness classes. Now I am unable to do these things. I can exercise, but I need to pay close attention to my heart rate and avoid intense exertion. My children can still do many of the activities they love and will continue to be monitored as they grow,” Van Doren explains.

Looking back, she reflects that there were definitely highs and lows during the genetic testing process. Thanks to the coordinated efforts of her Mayo Clinic care team, she and her family found the answers they needed.

“We have moved on – each day is filled with activities for 3 busy children – we’re living life to the fullest.”


This article originally appeared on the Individualized Medicine blog on March 26, 2019

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Mar 21, 2019 · Colon cancer: a new era in cancer screening and detection

Image of DNA with "family" written in itMarch is Colorectal Cancer Awareness Month, a time to focus on one of the most common and preventable forms of cancer. Mayo Clinic is applying a new genomic lens to colorectal and other cancers to identify which are the types that run in families. The answer to that could open new treatment options and also take the guess work out of who else in your family is at higher risk for cancer.

Niloy “Jewel” Samadder, M.D., a gastroenterologist at Mayo Clinic’s Arizona campus, is leading efforts to usher in a new era of screening and detection that focuses on identifying hereditary cancers. Research shows that 1 in every 15 cases of colon cancer and possibly up to 1 in every 5 cases of cancer overall are linked to underlying inherited genetic mutations.

A diagnosis of hereditary cancer often changes treatment to an individualized approach shaped by a patient’s genetic makeup. Mayo Clinic, with the support of the Center for Individualized Medicine, is moving toward testing all cancer patients for such inherited mutations — not just patients with cancer in their family tree.

photo of Dr. Niloy "Jewel Samadder

Niloy “Jewel” Samadder

“If we know that cancer was genetically predisposed, it can lead to unique options ensuring that treatments target the cancer and minimize side effects,” says Dr. Samadder. “For example, research shows that certain targeted chemotherapies and immunotherapies are not specific to the type of tumor or cancer but really act on certain molecular pathways. So, whether that cancer is colon, prostate or breast, we can respond with a drug that is targeted to the genetic mutations that caused that cancer rather than a specific tumor.”

To identify hereditary cancer, Mayo uses a robust DNA blood test panel that examines genes known to have links to cancer.

“This is the most comprehensive cancer genetic panel available today,” says Dr. Samadder. “We believe this gives us the tools for catching and treating inherited cancers that might have gone undetected in the past.”

If this test finds you have an inherited cancer, there is a 50 percent chance your immediate family members have the same genetic alteration that would increase their chance of developing a similar cancer. Under current cancer screening guidelines, up to half of all inherited cancers go undetected — a missed opportunity for early detection and possibly even cancer prevention.

Those with a genetic predisposition face a greater than average lifetime risk for cancer, but it is not 100 percent certain they would develop the disease. Lifestyle and environment also play a role in cancer risk.

Prevent a second cancer

Keila Alvarado of Phoenix was diagnosed with rectal cancer in 2008 at the age of 32. Genetic testing revealed Lynch syndrome, a hereditary condition that puts her at higher risk of developing colon, ovarian, uterine, stomach and other cancers.

Photo of Keila Alvarado

Keila Alvarado

“I was surprised. I really didn’t understand much about genetics at the time. I’m happy to have this information, because it’s better to be prepared. I now understand my risk for future cancers,” says Alvarado.

With grit and determination, Ms. Alvarado fought rectal cancer with surgery, chemotherapy and radiation. Now in remission, she has turned her attention to a new challenge: preventing a second type of cancer related to Lynch syndrome. She’s had a pre-emptive hysterectomy, has yearly blood work and screenings and is vigilant about her health.

“Any time the doctor says this is a preventive measure, I’m like, ‘ya, let’s do it.’ I don’t mind the different tests. I also take seriously my intake of food and how I can eat healthier. I try to be conscious of what I do and live a healthy lifestyle,” she says.

Now others in Alvarado’s family know they, too, could be at risk of inherited mutations that put them at higher risk for cancer. Some family members have chosen to have genetic testing, and those who also tested positive for Lynch syndrome can take a proactive approach to prevention.

“For patients with Lynch Syndrome, we suggest earlier and more frequent screenings. We recommend the first colonoscopy at age 20 and then once every one to two years after that. That’s different from the normal population where we start at age 50 and test every five to 10 years after that. We also recommend more frequent imaging, blood work, urine tests and skin exams,” Dr. Samadder says. “We would also refer females to a gynecologist to monitor for risks of uterine and ovarian cancer — possibly even recommending pre-emptive surgery.”

In some cases, Mayo will refer patients for chromoendoscopy, an ultra-sensitive screening which applies a special stain during a colonoscopy to detect polyps that might have otherwise been missed.

Dr. Samadder says Keila Alvarado’s case is a great example of how a new era of genetic screening can help inform family members who might not have known they are at higher risk of cancer. They can respond proactively to try to prevent cancer or catch it an early stage when it is curable.


This article was taken from the March 12, 2019 post on the Individualized Medicine blog.

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Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics

Westin Kierland Resort & Spa
Scottsdale, Arizona
Sept. 20-21, 2019

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