Posts (179)

Fri, Oct 4 8:24am · Individualized diets help patients with inherited metabolic disorders

Solving a puzzle to find the right diet and nutrition supplements to maintain health – that’s how Suzanne Boyer describes her role as a dietitian In the Inborn Errors of Metabolism Clinic within Mayo Clinic’s Department of Clinical Genomics. She works alongside physicians, geneticists and genetic counselors to develop individualized diet prescriptions for patients with inherited metabolic disorders.

Each of these patients has a genetic variation – inherited from one or both parents – that interferes with their bodies’ metabolism, affecting the ability to process different nutrients found in food. That’s why finding the right nutritional balance is critical to managing their overall health and avoiding serious, sometimes life-threatening symptoms.

Suzanne Boyer

“Thanks to the expansion of newborn screening, we can now identify infants with inherited metabolic disorders and begin to provide the appropriate nutritional support, right away. Prior to expanded newborn screening, infants often died because their conditions were undetected,” says Boyer. “Genetic testing has also helped us pinpoint the specific type of metabolic disorder in children and young adults who have not been previously screened, allowing us to customize a diet prescription to fit their unique needs.”

Here is a closer look at how Boyer works as part of the team that provides comprehensive treatment plans for patients with these rare diseases.

Why diet and nutrition are essential parts of individualized care

There are many different types of inherited metabolic
disorders. Patients with these disorders have very specific nutritional needs
to manage often complex medical conditions related to their specific condition.
That’s because they have a genetic variations that disrupts one or more
biochemical pathways in their body. These altered pathways can affect how a
patient processes amino acids, carbohydrates, fats, vitamins, and/or minerals.

“My role as a dietitian is to identify the formula or diet that meets each individual’s needs. Our goal is to ensure that patients receive adequate nutrition, monitor their health to ensure their individualized nutrition plan is meeting their needs and promote positive behaviors to maintain their health,” says Boyer.

When patients are first seen in the Inborn Errors of Metabolism Clinic, Boyer joins physicians in the initial clinical evaluation, taking a full nutrition history. She then examines results from the physical examination and laboratory tests to identify where adjustments need to be made in a patient’s overall nutrition plan.  

For infants and children, she develops customized
nutritional formulas that provide patients with the additional dietary
components they require for their specific inherited metabolic disorder. She
also works with patients and their families to develop an individualized diet,
defining guidelines that either limit or add certain types of proteins, fats or
sugars.  

In some cases, finding the right diet is a delicate
balancing act.

“One group of metabolic disorders causes intoxification. These patients cannot process the amino acids in protein normally. If they eat a normal diet with unrestricted protein, they could experience a coma or seizures, leading to death. But they do need a small amount of protein in their diet,” says Boyer. “We want to find the perfect balance of protein to maintain their health.”

The team also sees patients with disorders that affect energy metabolism, causing hypoglycemia (low blood sugar) or high levels of lactate. Other patients have disorders that involve complex molecules, requiring supplements that contain a form of sugar. For each of these patients, Suzanne works with physicians to develop the right nutritional supplements and diet.

As she looks forward, Suzanne anticipates that new drug
therapies will enhance the care the team is able to provide patients.

“Over the next 10 years, we expect that new drug treatments
will replace some of the nutritional supplements that we prescribe, offering
even more effective treatment for some patients with these inherited metabolic
disorders,” says Suzanne. 

Brendan Lanpher, M.D.

According to Brendan Lanpher, M.D., a clinical geneticist who leads the Inborn Errors of Metabolism Clinic, individualized diets play a critical role in the care for these patients.

“We’re excited to be able to provide comprehensive care to these patients, who require a coordinated treatment plan that includes nutrition support. Since the clinic opened in September, our team is seeing patients with existing or suspected metabolic disorders for acute and chronic management. Phenylketonuria (PKU), maple syrup urine disease (MSUD) and urea cycle disorder (UCD) are examples of conditions treated by a multidisciplinary team of specialists,” says Dr. Lanpher.

Educating patients and families

Boyer joined Mayo Clinic in April, after training and working as a metabolic dietitian at University of Mississippi Medical Center in Jackson and then holding the same role and also serving as a clinical program coordinator with dual affiliation at Texas Children’s Hospital and Baylor College of Medicine.

She brings her expertise to her new role at Mayo, where she works
closely with patients and their families to teach them about the specialized
dietary requirements for inherited metabolic disorders.

“We spend time educating parents so they understand how to
manage their child’s diet. For example, we may tell them that their child can
only have five grams of protein each day. But what does that look like? We give
them specific guidelines to help them provide their child with the right
nutrition,” she says.

For Boyer, one of the most gratifying parts of her job is seeing patients and their families when they return to the clinic for follow up.

“We monitor patients to ensure that the nutrition support
being provided is working effectively. Often times, parents comment that they
see an overall improvement in their child’s symptoms after beginning a specialized
diet,” she says.

The Inborn Errors of Metabolism Clinic is part of the
Department of Clinical Genomics, which provides the clinical support for Mayo
Clinic’s Center
for Individualized Medicine
 so patients can benefit from the latest
research and knowledge of personalized medicine. Learn more about the clinic here.

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Thu, Sep 19 8:48am · One Discovery Square - a hub for innovation, state-of-the-art labs, top researchers

Article by Susan Murphy

Today, researchers,
physicians and staff with the Advanced Diagnostics Laboratory, a joint
collaboration between the Mayo
Clinic Department of Laboratory Medicine and Pathology
and the Center
for Individualized Medicine
, will take part in a community celebration of
One Discovery Square from 4-6 p.m.

The grand
opening event, held in conjunction with the Destination Medical Center’s annual
meeting, is open to the public and features interactive displays, tenant
activity booths, music, food, games and self-guided tours. The
90,000-square-foot, four-story bioscience building is located at 201-299 4th
Street SW in the heart of downtown Rochester
.

Keith Stewart, M.B., Ch. B.

“By putting some of the world’s top medical researchers and
state-of-the-art laboratories under one roof, we now have an extraordinary
opportunity to accelerate discoveries of life-saving therapies and test
development in individualized medicine for patients with complex diseases,
including cancers,” says Keith
Stewart, M.B., Ch.B.
, Carlson and Nelson Endowed Director of Mayo Clinic
Center for Individualized Medicine.

Dr. Stewart
says the Advanced Diagnostic Laboratory will initially support 14 projects in
areas of disruptive technology, such as multi-omics, artificial intelligence
and digital pathology, bringing together current and new testing platforms with
multidisciplinary staff.

“The
collaboration represents a new era in transforming human health through
individualized medicine,” says Dr. Stewart. “Researchers will be encouraged to
innovate with a goal of accelerating the development and launch of new products
and services.”

In addition,
the Advanced Diagnostic Laboratory will collaborate with companies, both inside
and outside of One Discovery Square, to increase laboratory testing
capabilities at Mayo Clinic and to provide alternate revenue sources through
business partnerships.

One Discovery Square will also be home to two other Mayo Clinic departments: Biomedical Technology and Advanced Manufacturing of Regenerative Products. The building is part of a planned 16-block sub-district designed to be a hub for science and research.

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Tue, Sep 3 8:58am · Shotgun metagenomics: A promising new method toward diagnosing infections

Article by Christoph Bahn

Robin Patel, M.D.

This article originally appeared on Mayo Clinic Laboratories Insights.

Shotgun metagenomic sequencing (aka “shotgun metagenomics”) is a revolutionary new way to detect infectious organisms. Currently, this technology is undergoing validation for clinical testing in Mayo Clinic’s Clinical Microbiology Laboratory. By sequencing all of the DNA (or RNA in some instances) in a patient’s sample, the new tool can identify which potentially infectious organism (or organisms) is present. Traditional microbiology has not always been able to do this because certain microorganisms cannot be grown in culture; or, if a microorganism is present in a patient but has been suppressed to low levels by treatment, it may not be amenable to growth in culture.

Identifying pathogens in prosthetic joint infections

Based on a recent study at
Mayo
, the tool has already shown great promise in identifying the causes of
prosthetic joint infections (PJIs), which have been challenging to identify—hence,
in some cases, physicians and surgeons have had to treat infections with
antibiotics that cover a wide range of suspected pathogens, which may or
may not include those affecting their patients. This approach leads to
over-treatment of some patients and under-treatment of others.

For the study, fluid sampling
biofilms on the surfaces of joint replacements were taken from the joint sites
of 408 patients who had undergone total hip or knee joint replacements.
Each sample then underwent shotgun metagenomic testing. 

“With this approach, we sequence everything that’s in each clinical sample,” says Robin Patel, M.D., Chair of the Division of Clinical Microbiology and Director of the Infectious Diseases Research Laboratory, where this study was done. “Then we use bioinformatics tools to remove or erase the sequences that belong to humans, which make up most of our samples. After that, we look at what is left over. If the patient happens to have an infection, we should be able to see the DNA of whatever microorganism is causing their infection, whether it’s a bacterium, a fungus, a parasite, or even a virus. We are not looking for specific microorganisms or microorganism types; instead, we are looking for any microorganism.”  

According to study results, the tool identified known infectious
agents in almost all of the PJI cases that were “culture-positive.” More
importantly, it detected new infectious agents in 44 percent of PJIs from which
no organisms had been grown in culture and, thus, had previously tested
“culture-negative.”   

This technology’s high level of sensitivity is good news, given that PJIs are associated with significant morbidity and cost.

An invaluable technology for orthopedic surgeons

Matthew Abdel, M.D.

“Many patients with PJI are diagnosed with only one microorganism, so we may be missing a lot of microorganisms,” says Matthew Abdel, M.D., surgeon in Mayo’s Department of Orthopedic Surgery and Director of the Orthopedic Genetic Host Variation Laboratory. “There could be one, two, three, four, or even more, microorganisms present. Metagenomics allows us to pick up additional microorganisms in patient cases where more than one is present. And that’s important because not identifying or treating all the microorganisms present may be the reason some hip and knee replacements fail.”  

From an orthopedic surgeon’s clinical perspective, another
advantage of shotgun metagenomics is its sensitivity to pick up microorganisms
that, otherwise, do not show up in culture, and thus test
culture-negative.  In fact, five to 20 percent of cases that
meet clinical criteria for PJI are culture-negative.

“We’ll see a patient who we know is infected—that is their
clinical presentation, and laboratory tests indicate an infection—but cultures
don’t grow anything,” says Dr. Abdel, who co-authored the study paper. “The metagenomic
technique is able to identify microorganisms in this ‘culture-negative’ group. So
the technique is a big win for this subset of patients, who have been the most
difficult to treat.” 

In another anomalous subgroup of cases, the patient has a
knee or hip replacement in which clinicians suspect no infection, which is confirmed
by conventional laboratory tests. However, the joint replacement ends up failing.
 

“You do the surgery to remove the failed joint replacement and, through metagenomics testing, find out it was indeed infected, and failed because of infectious reasons that we had missed altogether,” says Dr. Abdel. “So this technology can also identify an infection in cases where we thought—at least in the past—there wasn’t one, allowing us to treat it and reduce the chance of joint failure.” 

Discovering pathogens previously unknown in PJI cases   

As part of the Mayo study, a
52-year-old man came to Dr. Abdel following a total right knee replacement at
an outside institution. After the knee replacement, the patient
had developed a PJI. Fluid samples from the knee were culture-negative; eventually,
the joint replacement failed and required removal.

At Mayo, the joint replacement was
removed and, since the patient’s samples still tested culture-negative, he
underwent six weeks of injected antibiotics to treat usual pathogens. He then
received a new replacement of the right knee, but unfortunately, he again
developed a PJI.  

“No one could figure out what
pathogen was causing the infection,” says Dr. Patel, who co-led the case study
with Dr. Abdel. “Every time they did a culture on this patient, nothing would
grow. But between the immune cell types in his joint tissues and fluids, and
the way he presented, he was obviously infected.”

For the study, Mayo investigators
re-analyzed a specimen from the patient’s original arthroplasty removal (which
had been in freezer storage), using the shotgun metagenomic approach. Remarkably,
the tool identified an unusual microorganism, Mycoplasma salivarium (now
renamed Metamycoplasma salivarium).

“This was a classic negative-culture case where we
had identified no microorganism, but we absolutely knew there was an infection,
so we used shotgun metagenomics on his sample,” says Dr. Abdel. “We expected it
to identify a microorganism that we’re used to seeing with PJIs. We never
expected it to be M. salivarium. ” 

Dr. Patel was also astonished. “It was surprising
when this organism was identified,” she says. “M. salivarium had never before
been reported to cause infections associated with joint replacements. So, we
would not ordinarily have been looking for it. The only way we found it was by
using a technique that looks for everything. This result was particularly
significant because M. salivarium needs a special type of antibiotic
treatment.”    

The next step was to confirm the result, using more
conventional testing. “Once we had an idea of what microorganism he had, we ran
some special cultures and were able to grow the same organism that shotgun
metagenomics had detected,” says. Dr. Patel. “This proved that M. salivarium
was the cause of his infection.”

The patient then received special treatment for his
specific infection. Since then, he has been doing well.    

“This was a unique win for medicine in two regards,” says Dr. Abdel. “One, we identified a microorganism, and two, we identified one that had never been known to cause infection in a knee replacement.”

Changing the paradigm of infection diagnosis

The case study of the 52-year-old patient is a great example of how this technology can work in the future. And the best part is that this tool is not limited to PJIs. It can be applied to sample-types like spinal fluid, blood, or secretions from deep down in the lungs — almost any place in the body really — to identify infectious pathogens.  Thus, shotgun metagenomics has the potential to change how many infections are diagnosed.  

“A lot of our traditional molecular tests only look for one microorganism at a time, like Staphylococcus aureus, for example,” says Dr. Patel. “But if the test doesn’t find that bacterium, it’s not helpful. We’ve just wasted time and money, and still don’t know what is going on — though we at least know what isn’t going on. Shotgun metagenomics can look for any kind of microorganism. It’s what we refer to as ‘unbiased’. If there’s a microorganism present, it may be able to find it, no matter what type of microorganism it is, and that’s really exciting.” 

The latest advances in cancer care

Join us for Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona. 

The conference brings together experts from Mayo Clinic and across the country to present and discuss case-based approaches to using genomics and new immunotherapies that oncologists and their teams can bring back to their own patients.

Other key conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute match

Preview the conference program.

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Tue, Aug 27 7:00am · Meet Margot Cousin, Ph.D.: Genetic detective, researcher, member of the A-team

Margot Cousin, Ph.D.

When a young boy arrived at Mayo Clinic after repeatedly experiencing
infections that caused a fever and a rapid loss of liver function, clinicians turned
to genetic testing to find the cause of the illness. Margot Cousin, Ph.D., a
translational genomics researcher in the Mayo
Clinic Center for Individualized Medicine
Translational Omics Program was
among the initial team that reviewed the genetic test results that discovered a
genetic variation linked to the patient’s condition. After collaborating with researchers
worldwide, the team found three other children with this very rare disorder,
known as pediatric recurrent acute liver failure (RALF) caused by alterations
in the gene RINT1.

As one of the recipients of the 2019
Afdhal / Hutchison LIFER Career Development Award for translational liver
research
from the American Association for the Study of Liver Disease
(AASLD), Dr. Cousin will continue the search for answers. Working as a genetic
detective, she hopes to uncover the underlying mechanisms causing this liver
disorder, with the goal of identifying potential ways to restore liver function
and prevent future liver failure. Her findings could also shed light on more
common liver diseases.

Here’s a closer look at how Dr. Cousin and her colleagues sought answers for this patient.

Determining how a genetic change is triggering liver failure

According to Dr. Cousin, each of the four affected children with
RALF has similar symptoms when they have an infection with fever.

“During these episodes, the young patients have an enlarged
liver and a loss of liver function. Since the liver plays a key role in blood
clotting, the disorder also puts them at risk for serious bleeding
complications,” explains Dr. Cousin. “Imaging tests also reveal that each of
these kids have some abnormalities in their bones.”

The affected children each have two alterations in the RINT1 gene, one inherited from each
parent, and that’s where Dr. Cousin is
looking for answers.

After publishing their initial
findings
about the disorder, the researchers are now using cellular biology
and advanced genomics and proteomics technologies to analyze patients’ cell
samples to better understand how these genetic variants in RINT1 trigger liver failure during illness.  

“This is an extremely rare disorder, and to date, no one has identified the role of RINT1 in human disease or why it is particularly critical to liver function,” says Dr. Cousin. “By investigating this rare condition, we may also learn about whether this gene contributes to liver failure more broadly, uncovering underlying mechanisms driving more common liver diseases.”

Testing potential treatments to restore liver function

Konstantinos Lazaridis, M.D.

While physicians are able to reduce fever and restore liver
function in affected individuals with supportive treatments, there is no
curative therapy – the episodes repeat with each infectious illness.

Dr. Cousin hopes to find a treatment that can stop this recurring
cycle.

“We have identified that the genetic variations in these
children cause them to have a deficiency in the RINT1 protein. As part of the research planned under this career
development award, I will evaluate whether increasing the amount of this
protein may restore and maintain more normal function in cell samples, with the
goal of developing more effective therapies.” 

“Dr. Cousin’s research offers hope for patients with this
rare disorder. Moreover, this new knowledge may be helpful to other patients
with more common types of liver disease,” adds Konstantinos
Lazaridis, M.D.
, William O. Lund, Jr., and Natalie C. Lund Director, Center
for Individualized Medicine Clinomics Program
. “We want to restore and
maintain healthy liver function and prevent the serious, potentially
life-threatening complications that can occur with acute liver failure.”

Dr. Lazaridis will contribute his expertise in liver disease research and individualized medicine as Dr. Cousin’s mentor for the AASLD award research.

All in a day’s work

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

This search for answers is all in a day’s work for Dr.
Cousin and her colleagues in the Translational Omics Program, which brings
together an “A-Team” of experts that include clinicians, geneticists,
bioinformaticians and genomics researchers to solve cases of complex,
undiagnosed disease.

“Cases like the young child with RALF are brought to the Center’s team of experts on the Genomic Odyssey Board. The group reviews clinical findings, DNA test results and the latest research discoveries to find answers for patients,” explains Eric Klee, Ph.D., director, Mayo Clinic Center for Individualized Medicine Translational Omics Program. “This collaborative model has helped us to find answers for approximately 30% of patients. We also continue to develop new tools and technologies that will help us solve even more cases.”    

Dr. Cousin’s Mayo Clinic journey began with a six-month undergraduate internship. After graduation she joined the Mayo Clinic Cytogenetics lab as a cytogenetics technologist. “I had a front row seat to seeing how clinical testing was used to uncover the underlying genetic changes driving many diseases.”

After
earning a doctorate in Clinical and Translational Science in the Mayo
Clinic Graduate School of Biomedical Sciences,
she joined the Translational
Omics Program within the Center for Individualized Medicine.

“Now I have the best of both worlds — I investigate and discover answers for patients who have been unable to determine the cause of their disease by using cutting-edge technologies, while working with experts across medical and research specialties,” she says. 

The latest advances in cancer care

Join us for Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona. 

The conference brings together experts from Mayo Clinic and across the country to present and discuss case-based approaches to using genomics and new immunotherapies that oncologists and their teams can bring back to their own patients.

Other key conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute match

Preview the conference program.

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Tue, Aug 20 7:00am · Genomics and computer science intersect to improve patient care

Computational genomics is a field that brings high-performance computing resources to drive precision medicine research toward new discoveries. However, when over 50 Mayo Clinic physicians, researchers and students gathered in June to participate in the Computational Genomics Course, the emphasis was on the needs of the patient.

The annual week-long intensive course is sponsored by the Mayo Clinic and Illinois Alliance for Technology-Based Healthcare. The collaboration between Mayo Clinic and the University of Illinois at Urbana Champaign provides an overview of the latest tools of the genomics trade used to rapidly analyze the vast amounts of data generated by DNA testing.

Participants in this year’s course from Mayo Clinic and the Carl R. Woese Institute for Genomic Biology at Illinois gained a better understanding of the computational processes used to analyze genomics data. University of Illinois faculty led hands-on lab exercises in a variety of subject areas, including genome sequencing and assembly, polymorphism and variant analysis, epigenomics and data visualization.

Educating the next generation of researchers and physicians

Timothy Curry, M.D., Ph.D.

“The Center for Individualized Medicine’s mission includes
educating the next generation of researchers and physicians about the rapidly
advancing field of genomics. This course offers attendees practical experience,
providing them with tools and insights about how genomics can foster the
development of new diagnostic tests and therapies for individualized care,” says
Timothy
Curry, M.D., Ph.D.
, director, Mayo
Clinic Center for Individualized Medicine Education Program
.

Nidhi Jalan Sakrikar, Ph.D., a course participant, wanted to
learn how to improve care for patients with liver disease.  Dr. Sakrikar is a research associate working
with Robert
Huebert, M.D.
, and his research team. The team aims to develop new
therapies for patients with liver and biliary diseases.

Nidhi Jalan Sakrikar, Ph.D.

“My research involves using genomics sequencing on samples
from patients with primary sclerosing cholangitis,” says Dr. Sakrikar. “The
techniques covered in the Computational Genomics course will help me curate all
of the research data into one comprehensive data set that we hope will reveal
some new therapeutic targets to treat these patients, especially those that do
not respond to standard therapies.”

Justin
Nguyen, M.D.
, also wanted to learn how to improve care for patients with
liver disease, but from the physician side.

Justin Nguyen, M.D.

 “As a liver transplant surgeon, one of my goals is to optimize how to make the liver work better,” says Dr. Nguyen.  “This course really offered me a new perspective and better tools to dive deep into the genetic and molecular levels of the liver to achieve better outcomes for patients.”

Computational genomics — a rapidly evolving science

Michael Kalmbach

Mike Kalmbach, a Mayo Clinic lead analyst and programmer in Bioinformatics Systems and teaching assistant for the course, often consults with participants, offering advice on how to use computational genomics to advance research projects.

“Computational genomics offers participants a glimpse into the possibilities of this evolving science,” says Kalmbach. “We’re at the very beginning with genomics we have much more to learn, but what we’ve been able to do already to improve our understanding of health and disease showcases how this science can guide more precise medical care.”

Mayo Clinic Center for Individualized Medicine sponsored the course with support from the Brandt Family Foundation.

The latest advances in cancer care

Join us for Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona. 

The conference brings together experts from Mayo Clinic and across the country to present and discuss case-based approaches to using genomics and new immunotherapies that oncologists and their teams can bring back to their own patients.

Other key conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute match

Preview the conference program.

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Thu, Aug 15 10:00am · Shaping the landscape of cancer care with precision therapies

Article by Sara Damore

Jeffrey Tyner, Ph.D.

Jeffrey Tyner, Ph.D., associate professor in the Department of Cell & Developmental Biology at Oregon Health & Science University, will join several precision cancer care leaders from across the country at the annual Individualizing Medicine Conference. Dr. Tyner will present “Precision Therapy through Functional Genomics in Hematologic Malignancies.”

Dr. Tyner’s research has helped shape the landscape of cancer care as he identifies cancer-causing gene targets in patients with cancer and precision genetic therapies. Last year he published an analysis of the genomic composition and unique tumor response to 122 drug therapies, the largest cancer dataset of its kind. His data was made available to other researchers using  a novel data visualization platform (Vizome).

New treatment approaches for a rare and deadly cancer

Dr. Tyner’s research utilizes a unique functional screening
approach, which he has spent the past decade developing. The process involves ex vivo sampling from patients with hematologic
malignancy to screen genes and cell signaling pathways responsible for cancer
cell growth using a library of small-molecule inhibitors. His test has now been
used to help over 2,000 patients, a critical component of care for patients
with hematologic malignancies.

His research has played a key role in gaining a better understanding of acute myeloid leukemia (AML) — a rare and deadly cancer with an approximately 28% five-year survival rate with 20,000 new cases each year.  The treatment of AML has remained largely unchanged over time, which makes genomic research crucial to identifying new therapy targets.

Connecting cancer experts across the globe

The cancer and immunotherapy focus of this year’s
Individualizing Medicine conference will bring together oncology researchers,
practitioners, and experts from across the globe. Attendees will network with
and learn from leaders in cancer care as they cover topics such as CAR T-Cell
therapy, oncolytic viruses, epigenetic markers, and immunotherapy. The course
will also include three unique pre-conference
sessions
:

  • Drugs and Genes: Pharmacogenomics for the Modern
    Healthcare Team
  • Basic Science of Immunotherapy, and Advanced
    Molecular Oncology Testing: A Focus on Next Generation Sequencing Panels
  • Novel Genetic Technologies

For more information and a complete schedule and list of speakers, please visit the conference website.

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Tue, Aug 6 9:07am · Meet Mukesh Pandey, Ph.D. - developing a new drug to detect prostate cancer in its earliest stages

Mukesh Pandey, Ph.D.

With a background in organic chemistry, Mukesh Pandey, Ph.D., initially planned to work in the pharmaceutical industry developing medications. But after completing a post-doctoral research fellowship in radiology at Harvard Medical School, he chose to focus his skills on improving imaging technologies to better detect the first signs of disease. Now he is a nuclear radiology researcher in the Department of Radiology at Mayo Clinic in Rochester, Minnesota.

Dr. Pandey is part of a Mayo Clinic team that has developed a new radioactive tracer used with molecular imaging to identify the early biochemical changes linked to prostate cancer. With support from the Mayo Clinic Center for Individualized Medicine, Dr. Pandey and his colleagues are testing the radioactive tracer in the clinic, with the goal of detecting and treating the disease sooner.

“Prostate cancer is one of the most common types of cancer in men. If detected early when it is confined to the prostate, treatment can be more successful. We hope this new technology will improve patient care by providing a clearer understanding of the biochemical status of the disease, allowing for more individualized treatment,” says Dr. Pandey.

Worldwide drug shortage prompts innovation in prostate cancer screening

A radio chemical element known as Gallium-68 (Ga-68) is used to create a radioactive tracer to detect prostate cancer. The drug illuminates biological changes linked to the disease on a molecular imaging test. However, a worldwide shortage of Ga-68 prompted Dr. Pandey and his team to search for alternative ways to produce the radioactive tracer.

“These radioactive tracers are critical to helping us screen
for prostate cancer with molecular imaging tests, such as a positron emission
tomography (PET) scan.  These tests allow
physicians to search for disease on the cellular level. While x-rays, CT scans
and MRIs provide an anatomical picture of the body, molecular images take a
deeper dive into the biological and chemical processes taking place,” he says.  

“While many types of prostate cancer grow slowly and require
minimal or no treatment, some forms are more aggressive and can spread
throughout the body. That’s why it is critical to detect the disease in its
earliest stages when it is most treatable,” adds Dr. Pandey

Timothy DeGrado, Ph.D.

Dr. Pandey, Timothy DeGrado, Ph.D., also from the Department of Radiology, and their team were the first group to successfully publish a study on producing the Ga-68 tracer using a machine known as a cyclotron. This approach enables the production of more Ga-68 than other methods. 

Together with a team of international experts, Dr. Pandey
and his colleagues published another
study
in the International Atomic Energy Agency journal, opening the
gateway for laboratories worldwide to use this new method to produce the
radioactive tracer.

“There’s been great interest in this new technology. Our publication is one of the most downloaded documents from the journal’s website. We’re excited that this work has the potential to impact care for men with prostate cancer worldwide,” says Dr. Pandey.

Moving discoveries from the lab to the clinic 

With support from the Center
for Individualized Medicine Biomarker Discovery Program
, the first cyclotron
produced Ga-68 drug was introduced into Mayo Clinic earlier this year and a
clinical trial evaluating the new approach is already underway.

“While many institutions are working with this new
technology, we are among the first to test this cyclotron produced Ga-68
labeled tracer in the clinical setting,” explains Dr. Pandey.

The new radioactive tracer is not limited to screening for
prostate cancer.

“Going forward, we will also use the cyclotron produced Ga-68 to screen for neuroendocrine cancer and other cancers with similar biological characteristics,” he says.

Mentorship and teamwork – key to advancing discovery

Val Lowe, M.D.

“After my training, I shifted my career focus to work more
closely with the medical field so my work could have a greater impact on patients.
While I had a strong background as a chemist, it was with the help of many mentors,
including Dr. DeGrado and Val
Lowe, M.D.
, that I learned about the broad capabilities of molecular
imaging,” says Dr. Pandey.

While Dr. Pandey and his colleagues began work on developing
their new method to generate a Ga-68 radiotracer in 2010, it took time to
identify the correct production process.

“Medical discoveries are often made by diving deeper into the biochemical mechanisms that trigger disease. Over the years, my mentors have encouraged me to try new paths as we searched for answers,” says Dr. Pandey. “With the freedom to explore and collaborate, we were able to create a new method of producing Ga-68 labeled tracers that we hope will help physicians to diagnose prostate cancer sooner, improving outcomes for our patients.”

The latest advances in cancer care

Join us for Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona. 

The conference brings together experts from Mayo Clinic and across the country to present and discuss case-based approaches to using genomics and new immunotherapies that oncologists and their teams can bring back to their own patients.

Other key conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute match

Preview the conference program.

Stay informed

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Tue, Jul 30 12:11pm · Community voices guide use of biobank samples in research

Article by Caitlin Doran

Community Advisory Board members interact with a Mayo researcher while attending a Mayo Clinic Biobank open house.

Mayo Clinic supports biobanks — large collections of patient biological samples—near each of its three campuses in Arizona, Florida and Minnesota, with the goal of advancing research to broaden the understanding of health and disease. Paired with each biobank, Mayo fields a community advisory board (CAB), whose members are recruited from the local community to help guide the direction and conduct of research.

“Each sample in the biobank represents a person from our
local community,” says Barry Hall, a member of the Florida CAB. The board’s job
is to safeguard those samples: to make sure they’re used in research that
honors the donor’s contribution, even though the person who donated their
samples may never be able to see or benefit from the results.

Community advisory board members also want to ensure that research using biobank resources aligns with the needs of the community. In Phoenix, Mayo Clinic collaborates with Mountain Park Health System and Arizona State University to host a CAB that works with the Sangre Por Salud (Spanish for Blood for Health) Biobank. This biobank was created to expand precision medicine research to the Latino community, a population that is underrepresented in biobanks and in research.

“Every community is different, and what they need from research is different too,” says Crystal Gonzalez, community advisory board coordinator for Sangre Por Salud.

Sangre Por Salud Community Advisory Board, 2014

In addition, community advisory board members ground research in the values of the community, helping investigators understand how their work may be perceived from the outside.

“I think researchers are so passionate about curing disease that they sometimes have blinders on,” says Kathryn Hollenhorst, a member of Mayo’s community advisory board in Minnesota. “I feel it is our responsibility to make sure they take the blinders off and be challenged to see things from a lay person’s perspective.”

A mutually-beneficial arrangement

The community advisory boards in Arizona, Florida and
Minnesota play a critical role in Mayo’s
individualized medicine
research, says Richard
Sharp, Ph.D.
, director of the Mayo
Clinic Center for Individualized Medicine Bioethics Program
. “Their
perspectives are invaluable in developing individualized medicine approaches
that will one day benefit the community.”

Suzette
Bielinski, Ph.D.
, a Mayo Clinic epidemiology
researcher, agrees. She recently worked with the Mayo community advisory board
in Minnesota to review her study’s recruitment brochure and consent document.
She says the CAB’s feedback was “invaluable, because it made the study
materials easier to understand and more accessible to the general public.”

Not all researchers who use Mayo’s biobanks choose to engage with the community advisory board. Dr. Bielinksi considers that a missed opportunity. 

“Bottom line,” she says, “collaboration with the community advisory board enhances my research.”

Community advisory board members also benefit from the opportunity to take part in research. The more they participate, the more knowledgeable they become about the fields of genomics and individualized medicine.

“Members are ideal partners and advocates for Mayo investigators,” says Karen Meagher, Ph.D., associate director of public engagement, Mayo Clinic Biomedical Ethics Research Program. “They help communicate the value of the research back to the community.”

Mayo Clinic Biobank Community Advisory Boards

Rochester, Minnesota

The Minnesota community advisory board works with a wide range of researchers and its members draw on their history of engagement, which dates back to helping the biobank get started in 2007. Most of the current collection has been donated by Mayo Clinic patients.  

In addition to its research advisory role, the community advisory board is also actively engaged in community outreach. In 2016, they joined the Rochester Public Library to develop the Bioethics at the Cinema events, a movie screening and discussion series free and open to the public, designed to engage the community in conversations about important bioethics issues in research and clinical care.

Northeast Florida

Northeast Florida Community Advisory Board, 2015

The Florida community advisory board meets at Mayo’s campus in Jacksonville, but the group draws its members from throughout northeastern Florida. Jacksonville has a large and diverse population, with a significant number of retirees, which is reflected in the membership of the board and in the donors to the biobank.

Jacksonville also has a large geographic footprint and is home to many other medical institutions. The community advisory board is working to have membership reflect how patients in the area often move in and out of these different health systems.

Phoenix, Arizona

The Arizona community advisory board works with Sangre por Salud (blood for health), a biobank collaboratively managed by Mountain Park Health Center, Arizona State University, and Mayo Clinic. The biobank was created to expand precision medicine research the local Latino community. 

Research conducted with biological samples from Sangre por Salud focuses on health issues specific to this population; in particular, chronic health conditions, such as obesity and type 2 diabetes that disproportionately impact the Latino community. Community members who donate materials to the biobank are patients at Mountain Park Health Center, a Federally-Qualified Health Center that provides comprehensive health care to underserved populations.

More information

The latest advances in cancer care

Join us for Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona. 

The conference brings together experts from Mayo Clinic and across the country to present and discuss case-based approaches to using genomics and new immunotherapies that oncologists and their teams can bring back to their own patients.

Other key conference themes include:

  • CAR-T cell therapy
  • Clonality
  • Pharmacogenomics
  • Lineage Plasticity
  • National Cancer Institute match

Preview the conference program.

Stay informed

Want to read more stories like this one?

Register to get weekly updates about new stories on Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

For more information on the Mayo Clinic Center for Individualized Medicine, visit our blogFacebookLinkedIn or Twitter at @MayoClinicCIM.

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