Posts (185)

Thu, Nov 28 6:00am · For one patient, sharing her family medical history led to lifesaving care

Stephanie Van Doren and her family

When Stephanie Van Doren first visited Mayo Clinic’s campus in Florida, she was seeking care for digestive issues. But after hearing Van Doren’s family medical history and completing a clinical evaluation, gastroenterologist Timothy Woodward, M.D. recognized that she may also be at risk for a potentially fatal heart condition, aortic dissection.

Genetic testing confirmed that risk and provided lifesaving information to Van Doren and her family.

Timothy Woodward, M.D.

“Because Ms. Van Doren knew and shared her family medical history, we were able to identify and diagnose her risk for a hereditary condition that could have been life-threatening if undetected,” says Dr. Woodward.  “Working with our genetic counselors and cardiologists, she and her family had genetic testing and are now receiving individualized care, tailored to their needs.”

Thanksgiving Day, Thursday, Nov. 28, is National Family
Health History Day. As you spend time with relatives over the holiday, take
time to learn more about your family medical history – it could uncover
important information to help you manage your health.

Whom in your family should you ask?

When evaluating a patient’s risk for disease, physicians and genetic counselors will ask for health information for three generations of an individual’s family. Build your own family medical history by talking with these family members:

  • Grandparents
  • Parents
  • Siblings
  • Aunts, uncles and first cousins
  • Children

What health information you need to know

Ask family members about these topics:

  • History of diseases such as heart disease,
    diabetes, high blood pressure, depression, anxiety and cancer (specify
    type of cancer)
  • History of inherited conditions such
    as hemophilia, cystic fibrosis and sickle cell anemia
  • Cause and age of death
  • Birth defects
  • Family’s ethnic background – some
    conditions, such as diabetes, can be prevalent in certain ethnic groups

Have an impact on health – yours and your family’s

With information about your family’s medical history, your physician can determine what steps need to be taken to maintain your health, including screening tests or lifestyle changes that could help prevent any diseases that you may be more susceptible to developing.

At the same time, remember to share information about your
own health conditions with your family – the results could be lifesaving.

Learn more

Stay informed

Read more stories about advances in individualized medicine.

Register to get weekly updates from the Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

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

Thu, Nov 14 7:38am · Genetic counselors offer a human experience, guidance for patients

Joan Steyermark

On Thursday, November 14, we celebrated Genetic Counselor Awareness Day to recognize the important role genetic counselors play in educating patients, physicians and the community on the continually advancing field of genetic testing.

“Mayo Clinic genetic counselors are those members of the health care team who are specially trained to guide patients through the testing process,” says Joan Steyermark, supervisor of the Mayo Clinic genetic counseling team in the Department of Clinical Genomics. “Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

There are many reasons a patient may undergo genetic testing. Patients with rare and undiagnosed diseases are looking for answers to the causes of their symptoms. Couples or expectant parents may consider prenatal testing to determine if their baby may be at risk for an inherited disease. Others with a family history of disease may choose genetic testing to identify their own risk.

“While genetic testing may help provide answers and is an important component of individualized care, the prospect of going through the testing process may seem daunting,” says Steyermark. “That’s why it is important that patients meet with a genetic counselor when considering testing.”

“Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

Joan Steyermark

Steyermark and her team work closely with physicians and researchers in the Mayo Clinic Center for Individualized Medicine to help patients with rare and undiagnosed diseases, many who have searched for years for the cause of their symptoms. They also meet with cancer patients and those with kidney, heart and pulmonary disease. 

In addition, genetic counselors see healthy individuals to review predictive testing options that may allow early identification of genetic risks.

What can patients expect from a genetic counselor?

Sarah Kroc

“We begin sessions by talking with patients to learn what their goals are and why they are considering genetic testing, as well as what concerns they may have,” says Sarah Kroc, a Mayo Clinic genetic counselor on Steyermark’s team.

Next, patients are guided through these steps:

  • Family medical history: Counselors take a three-generation family history to identify potential hereditary diseases or risk for disease that run in the family.
  • Risk assessment: Based on a patient’s medical history and their family medical history, counselors identify the likelihood that patients may have a genetic mutation linked to their current condition or future risk for disease.
  • Review of genetic testing options: Counselors highlight the testing options available, reviewing the benefits and limitations of each test. They also discuss how a positive test result, meaning a significant genetic variation has been identified, may affect the patient’s current or future medical care as well as the care of their family members.

Throughout the process, counselors encourage patients to take their time in deciding on whether or not to pursue genetic testing.

Jessica Tarnowski

As Jessica Tarnowski, another genetic counselor on the team explains, “We recognize that genetic testing is not just another laboratory test. It is one of the most personal tests that patients can have because it uncovers the genetic traits that make each person unique.”

What happens after genetic testing?

After testing, the counselors notify patients about test results, collaborating with each patient’s health care team if a significant genetic variation is identified.

“We work closely with physicians to help them understand how a patient’s test results may impact management of their current care or prompt the need for further screening,” says Steyermark.

The team of counselors also monitor guidelines for genetic testing, notifying physicians when a new test is available that may improve diagnosis or help identify targeted treatments for a specific disease.

“Our genetic counselors see patients as human beings – not illnesses,” says Steyermark. “They are focused on providing the best medical care and guidance to each patient, every day.”

In addition to the clinical setting, genetic counselors can work in a variety of other areas, including the laboratory, research, advocacy and public health. Mayo Clinic employs over 50 genetic counselors across multiple areas of practice.

Stay informed

Read more stories about advances in individualized medicine.

Register to get weekly updates from the Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

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

Thu, Nov 14 7:38am · Genetic counselors offer a human experience, guidance for patients

Joan Steyermark

Today is Genetic Counselor Awareness Day, a time dedicated to raising awareness about the important role genetic counselors play in educating patients, physicians and the community on the continually advancing field of genetic testing.

“Mayo Clinic genetic counselors are those members of the health care team who are specially trained to guide patients through the testing process,” says Joan Steyermark, supervisor of the Mayo Clinic genetic counseling team in the Department of Clinical Genomics. “Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

There are many reasons a patient may undergo genetic testing. Patients with rare and undiagnosed diseases are looking for answers to the causes of their symptoms. Couples or expectant parents may consider prenatal testing to determine if their baby may be at risk for an inherited disease. Others with a family history of disease may choose genetic testing to identify their own risk.

“While genetic testing may help provide answers and is an important component of individualized care, the prospect of going through the testing process may seem daunting,” says Steyermark. “That’s why it is important that patients meet with a genetic counselor when considering testing.”

“Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

Joan Steyermark

Steyermark and her team work closely with physicians and researchers in the Mayo Clinic Center for Individualized Medicine to help patients with rare and undiagnosed diseases, many who have searched for years for the cause of their symptoms. They also meet with cancer patients and those with kidney, heart and pulmonary disease. 

In addition, genetic counselors see healthy individuals to review predictive testing options that may allow early identification of genetic risks.

What can patients expect from a genetic counselor?

Sarah Kroc

“We begin sessions by talking with patients to learn what their goals are and why they are considering genetic testing, as well as what concerns they may have,” says Sarah Kroc, a Mayo Clinic genetic counselor on Steyermark’s team.

Next, patients are guided through these steps:

  • Family medical history: Counselors take a three-generation family history to identify potential hereditary diseases or risk for disease that run in the family.
  • Risk assessment: Based on a patient’s medical history and their family medical history, counselors identify the likelihood that patients may have a genetic mutation linked to their current condition or future risk for disease.
  • Review of genetic testing options: Counselors highlight the testing options available, reviewing the benefits and limitations of each test. They also discuss how a positive test result, meaning a significant genetic variation has been identified, may affect the patient’s current or future medical care as well as the care of their family members.

Throughout the process, counselors encourage patients to take their time in deciding on whether or not to pursue genetic testing.

Jessica Tarnowski

As Jessica Tarnowski, another genetic counselor on the team explains, “We recognize that genetic testing is not just another laboratory test. It is one of the most personal tests that patients can have because it uncovers the genetic traits that make each person unique.”

What happens after genetic testing?

After testing, the counselors notify patients about test results, collaborating with each patient’s health care team if a significant genetic variation is identified.

“We work closely with physicians to help them understand how a patient’s test results may impact management of their current care or prompt the need for further screening,” says Steyermark.

The team of counselors also monitor guidelines for genetic testing, notifying physicians when a new test is available that may improve diagnosis or help identify targeted treatments for a specific disease.

“Our genetic counselors see patients as human beings – not illnesses,” says Steyermark. “They are focused on providing the best medical care and guidance to each patient, every day.”

In addition to the clinical setting, genetic counselors can work in a variety of other areas, including the laboratory, research, advocacy and public health. Mayo Clinic employs over 50 genetic counselors across multiple areas of practice.

Stay informed

Read more stories about advances in individualized medicine.

Register to get weekly updates from the Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

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

Thu, Nov 14 7:38am · Genetic counselors offer a human experience, guidance for patients

Joan Steyermark

Today is Genetic Counselor Awareness Day, a time dedicated to raising awareness about the important role genetic counselors play in educating patients, physicians and the community on the continually advancing field of genetic testing.

“Mayo Clinic genetic counselors are those members of the health care team who are specially trained to guide patients through the testing process,” says Joan Steyermark, supervisor of the Mayo Clinic genetic counseling team in the Department of Clinical Genomics. “Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

There are many reasons a patient may undergo genetic testing. Patients with rare and undiagnosed diseases are looking for answers to the causes of their symptoms. Couples or expectant parents may consider prenatal testing to determine if their baby may be at risk for an inherited disease. Others with a family history of disease may choose genetic testing to identify their own risk.

“While genetic testing may help provide answers and is an important component of individualized care, the prospect of going through the testing process may seem daunting,” says Steyermark. “That’s why it is important that patients meet with a genetic counselor when considering testing.”

“Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

Joan Steyermark

Steyermark and her team work closely with physicians and researchers in the Mayo Clinic Center for Individualized Medicine to help patients with rare and undiagnosed diseases, many who have searched for years for the cause of their symptoms. They also meet with cancer patients and those with kidney, heart and pulmonary disease. 

In addition, genetic counselors see healthy individuals to review predictive testing options that may allow early identification of genetic risks.

What can patients expect from a genetic counselor?

Sarah Kroc

“We begin sessions by talking with patients to learn what their goals are and why they are considering genetic testing, as well as what concerns they may have,” says Sarah Kroc, a Mayo Clinic genetic counselor on Steyermark’s team.

Next, patients are guided through these steps:

  • Family medical history: Counselors take a three-generation family history to identify potential hereditary diseases or risk for disease that run in the family.
  • Risk assessment: Based on a patient’s medical history and their family medical history, counselors identify the likelihood that patients may have a genetic mutation linked to their current condition or future risk for disease.
  • Review of genetic testing options: Counselors highlight the testing options available, reviewing the benefits and limitations of each test. They also discuss how a positive test result, meaning a significant genetic variation has been identified, may affect the patient’s current or future medical care as well as the care of their family members.

Throughout the process, counselors encourage patients to take their time in deciding on whether or not to pursue genetic testing.

Jessica Tarnowski

As Jessica Tarnowski, another genetic counselor on the team explains, “We recognize that genetic testing is not just another laboratory test. It is one of the most personal tests that patients can have because it uncovers the genetic traits that make each person unique.”

What happens after genetic testing?

After testing, the counselors notify patients about test results, collaborating with each patient’s health care team if a significant genetic variation is identified.

“We work closely with physicians to help them understand how a patient’s test results may impact management of their current care or prompt the need for further screening,” says Steyermark.

The team of counselors also monitor guidelines for genetic testing, notifying physicians when a new test is available that may improve diagnosis or help identify targeted treatments for a specific disease.

“Our genetic counselors see patients as human beings – not illnesses,” says Steyermark. “They are focused on providing the best medical care and guidance to each patient, every day.”

In addition to the clinical setting, genetic counselors can work in a variety of other areas, including the laboratory, research, advocacy and public health. Mayo Clinic employs over 50 genetic counselors across multiple areas of practice.

Stay informed

Read more stories about advances in individualized medicine.

Register to get weekly updates from the Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

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

Thu, Nov 14 7:38am · Genetic counselors offer a human experience, guidance for patients

Joan Steyermark

Today is Genetic Counselor Awareness Day, a time dedicated to raising awareness about the important role genetic counselors play in educating patients, physicians and the community on the continually advancing field of genetic testing.

“Mayo Clinic genetic counselors are those members of the health care team who are specially trained to guide patients through the testing process,” says Joan Steyermark, supervisor of the Mayo Clinic genetic counseling team in the Department of Clinical Genomics. “Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

There are many reasons a patient may undergo genetic testing. Patients with rare and undiagnosed diseases are looking for answers to the causes of their symptoms. Couples or expectant parents may consider prenatal testing to determine if their baby may be at risk for an inherited disease. Others with a family history of disease may choose genetic testing to identify their own risk.

“While genetic testing may help provide answers and is an important component of individualized care, the prospect of going through the testing process may seem daunting,” says Steyermark. “That’s why it is important that patients meet with a genetic counselor when considering testing.”

“Our goal is to empower patients and their families by providing information and support to help them understand their family history, evaluate genetic testing options and make informed health care decisions based on test results.”

Joan Steyermark

Steyermark and her team work closely with physicians and researchers in the Mayo Clinic Center for Individualized Medicine to help patients with rare and undiagnosed diseases, many who have searched for years for the cause of their symptoms. They also meet with cancer patients and those with kidney, heart and pulmonary disease. 

In addition, genetic counselors see healthy individuals to review predictive testing options that may allow early identification of genetic risks.

What can patients expect from a genetic counselor?

Sarah Kroc

“We begin sessions by talking with patients to learn what their goals are and why they are considering genetic testing, as well as what concerns they may have,” says Sarah Kroc, a Mayo Clinic genetic counselor on Steyermark’s team.

Next, patients are guided through these steps:

  • Family medical history: Counselors take a three-generation family history to identify potential hereditary diseases or risk for disease that run in the family.
  • Risk assessment: Based on a patient’s medical history and their family medical history, counselors identify the likelihood that patients may have a genetic mutation linked to their current condition or future risk for disease.
  • Review of genetic testing options: Counselors highlight the testing options available, reviewing the benefits and limitations of each test. They also discuss how a positive test result, meaning a significant genetic variation has been identified, may affect the patient’s current or future medical care as well as the care of their family members.

Throughout the process, counselors encourage patients to take their time in deciding on whether or not to pursue genetic testing.

Jessica Tarnowski

As Jessica Tarnowski, another genetic counselor on the team explains, “We recognize that genetic testing is not just another laboratory test. It is one of the most personal tests that patients can have because it uncovers the genetic traits that make each person unique.”

What happens after genetic testing?

After testing, the counselors notify patients about test results, collaborating with each patient’s health care team if a significant genetic variation is identified.

“We work closely with physicians to help them understand how a patient’s test results may impact management of their current care or prompt the need for further screening,” says Steyermark.

The team of counselors also monitor guidelines for genetic testing, notifying physicians when a new test is available that may improve diagnosis or help identify targeted treatments for a specific disease.

“Our genetic counselors see patients as human beings – not illnesses,” says Steyermark. “They are focused on providing the best medical care and guidance to each patient, every day.”

In addition to the clinical setting, genetic counselors can work in a variety of other areas, including the laboratory, research, advocacy and public health. Mayo Clinic employs over 50 genetic counselors across multiple areas of practice.

Stay informed

Read more stories about advances in individualized medicine.

Register to get weekly updates from the Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

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

Mon, Nov 4 8:24am · Preparing the workforce of the future: students work side-by-side with Mayo researchers and physicians

Monika Kizerwetter (left) talks with
Virginia Shapiro, Ph.D.

This past summer, Monika Kizerwetter arrived on Mayo Clinic’s campus in Rochester, Minnesota, and Hsuan-Yu (Taylor) Chen came to Mayo Clinic’s Florida campus – each ready to work alongside leading medical researchers.

But their experience extended far beyond the laboratory. They each saw firsthand how teams of researchers and physicians collaborate to fuel discoveries that can improve patient care.

Kizerwetter and Chen were among 10 Illinois students who came to Mayo Clinic through the Mayo Clinic & Illinois Alliance for Technology-Based Healthcare. Each student was matched with research mentors whose research is supported in part by Mayo Clinic Center for Individualized Medicine.

They joined students from across the country as participants in the Summer Undergraduate Research Fellowship (SURF) Program within the Mayo Clinic Graduate School of Biomedical Sciences.

We’re helping to educate the workforce of the future by bringing these amazing students to investigate how genomics is implicated in health and disease.”

Carolyn Roher Vitek, Ed. D.

Carolyn Rohrer Vitek, Ed.D.

“These students had the opportunity to work with researchers
across a broad spectrum of specialties, to work on their own research project
or as part of an ongoing research investigation in order to advance discovery.
We’re helping to educate the workforce of the future by bringing these amazing
students to investigate how genomics is implicated in health and disease,” says
Carolyn Rohrer Vitek, Ed. D., operations manager, Mayo
Clinic Center for Individualized Medicine Education Program
.

Maximizing the benefit of immunotherapies to treat cancer

Kizerwetter, a senior majoring in bioengineering and minoring
in chemistry, chose to come to Mayo Clinic to further her research in
immunology and see how this work translates into medical care.

“I knew there was no other environment quite like Mayo Clinic, a place where you can see cutting edge research and state-of-the-art medical care coming together as one,” says Kizerwetter. “I had the opportunity to meet and discuss research with some of the top scientists and clinicians in the world. You can see how the research you do can impact the lives of patients.”

Working in the laboratory of Virginia
Shapiro, Ph.D.
, Kizerwetter examined ways to maximize the effectiveness of
immunotherapies to treat cancer. 

“As tumors grow, they ensure that the environment around
them remains very immunosuppressive, interfering with the ability of key
components of immunity, like T cells, to activate and respond to disease,” she
explains. “We explored ways to make the tumor environment more hospitable to
immune cells, with the goal of eventually developing a technique that could be
used in conjunction with other immunotherapies, such as CAR T cells, to improve
patient outcomes. Ideally, these therapies would be tailored to a patient’s
unique cancer type as well, further increasing therapeutic efficacy.”

She also analyzed the benefits and potential side effects of
therapies known as HDAC3 inhibitors used to treat cancer and Huntington’s disease.

“I knew there was no other environment quite like Mayo Clinic, a place where you can see cutting edge research and state-of-the-art medical care coming together as one. I had the opportunity to meet and discuss research with some of the top scientists and clinicians in the world. You can see how the research you do can impact the lives of patients.”

Monika Kizerwetter

For Kizerwetter, the opportunity to refine her laboratory
skills and collaborate with researchers on new approaches will be invaluable as
she moves forward in her research career.

“While in Dr. Shapiro’s lab, I was always encouraged to explore new aspects of my projects and felt supported by those around me. My time at Mayo Clinic cemented my decision to pursue a doctorate and a career in biomedical research.”

Improving care for Parkinson’s disease and other neurodegenerative disorders

Hsuan-Yu (Taylor) Chen

Chen is also studying bioengineering as a sophomore at
Illinois. He was drawn to Mayo Clinic to get a closer look at how research
discoveries are translated into patient care.

“As bioengineering students, we spend a lot of time thinking
about how research and engineering can help solve real world problems seen in
medicine, such as drug delivery or imaging. My summer research experience at
Mayo Clinic broadened my perspective and gave me hands on experience with
research that is laying the foundation for the development of new therapies for
Parkinson’s disease and other neurodegenerative disorders,” he says.

Chen worked with Wolfdieter
Springer, Ph.D.
and his laboratory team, focusing on the mechanisms driving
mitophagy, a process that guides the turnover of mitochondria within cells to
keep them healthy.

“While this process has been studied mostly in cellular models
in the past, Dr. Springer and his colleagues are using brain tissue from
deceased patients who had neurodegenerative diseases to study how disruptions
in the mitophagy process may be linked to their disorder,” he explains. “This
work will lay the groundwork for future research into developing therapies that
can correct or repair dysfunctions in these underlying processes.”

“Not only did I learn about science and lab techniques, I was also able to learn how scientists critically analyze a problem, ask questions and facilitate constructive discussions. On the medical side, I got to observe how the best hospital in the world provides care and service to its patients.”

Hsuan-Yu (Taylor) Chen.

Planning to pursue a career as a physician-scientist, Chen was also inspired by the collaboration he saw among research teams.

“Not only did I learn about science and lab techniques, I was also able to learn how scientists critically analyze a problem, ask questions and facilitate constructive discussions.  On the medical side, I got to observe how the best hospital in the world provides care and service to its patients,” says Chen.

Benefactors help educate the next generation

Support from these benefactors has helped many talented students
explore individualized medicine research:

  • Brandt Young Scholars Fund
  • Brian P. and Doris G. Monieson Fund for Mayo Clinic Summer Undergraduate Research Fellowships, Center for Individualized Medicine.

“Thanks to our generous benefactors, we are able to bring gifted students to Mayo Clinic and introduce and engage them in clinical, precision medicine research. It’s so exciting to watch these students develop and share their research findings … they amaze me with how they continue to advance the science,” says Rohrer Vitek.

Stay informed

Read more stories about advances in individualized medicine.

Register to get weekly updates from the Mayo Clinic Center for Individualized Medicine blog.

Join the conversation

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

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

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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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