Mayo Clinic researchers are working to accelerate the diagnoses of rare diseases and renew hope for patients whose symptoms have defied an explanation ― sometimes for years or even decades.   

The team of genomics experts has developed an automated system called RENEW for tracking new scientific knowledge from around the world of pathogenic genetic variants and applying it to Mayo Clinic patients with rare and undiagnosed diseases. RENEW stands for reanalysis of negative whole-exome/genome data. 

"We're seeing dramatic growth in knowledge around what causes genetic disease, so we wanted to create a system to consistently track these discoveries," says Eric Klee, Ph.D., a Mayo Clinic bioinformatics scientist within the Center for Individualized Medicine.   

An estimated 30 million people in the U.S. have a rare disease, which can be chronic, debilitating and even deadly. Many rare diseases are caused by mutations in genes or chromosomes ― either passed from a parent or occurring randomly in a single person. In some instances, patients with rare diseases search for answers for 10 years or longer, propelled through a marathon of health care provider visits and tests.  

Reanalyzing rare disease cases through discovery hub  

The launch of RENEW comes at a pivotal time when advancements in genomic sequencing technologies and bioinformatics tools are leading to a greater understanding of the links between genes and disease. Last year alone, researchers within Mayo Clinic and across the globe documented nearly twice as many newly discovered gene-disease variants, compared to five years ago. 

Similarly, over just three months, approximately 8,400 new genetic variants were described in one public database alone, and more than 260,000 previously known variants were updated with new information. 

"We're seeing dramatic growth in knowledge around what causes genetic disease, so we wanted to create a system to consistently track these discoveries."

Eric Klee, Ph.D.  

Dr. Klee says, with RENEW, the latest worldwide gene-disease findings are automatically downloaded every three months from a hub of published discoveries, including from the Human Gene Mutation Database, ClinVar and Online Mendelian Inheritance in Man. New findings are then compared to Mayo's database of patient sequencing results to identify potentially important developments.  

"We're able to identify any differences within minutes and then apply those differences to patient data to see if any patients have these new emerging findings," Dr. Klee says. 

A key feature of RENEW is a special set of filters that whittle down the new genetic information available since the last analysis and zero in on what could cause the disease. 

Alejandro Ferrer, Ph.D., the co-developer of RENEW, uses key pieces of information that allow the system to tailor the filters to each patient's specific characteristics. Dr. Ferrer is a translational omics researcher in Mayo Clinic's Center for Individualized Medicine and Division of Hematology. 

"The filter allows only the relevant information to pop up, so new genes and variants that have been added to the database are flagged, as well as important changes to information on known disease-causing genes and variants," Dr. Ferrer explains. "We don't start with a case from scratch. We're building up from the last time that we analyzed the case, and we just focus on what is new."  

Dr. Ferrer says the most obvious advantage of this approach is the enormous amount of time and effort it saves.  

"Usually, reanalyzing a case takes researchers and clinicians hours or days to sift through published papers that describe new gene-disease links and going through complex patient data to search for clues," Dr. Ferrer says. 

The researchers emphasize RENEW does not replace the manual process but rather gives it a boost. So far, they say the results are encouraging.  

"Solving a case does not always come with an actionable therapeutic option, but providing patients with an answer to what is the cause of their disease is the most important first step toward finding a treatment," Dr. Klee says.  

"We don't start with a case from scratch. We're building up from the last time that we analyzed the case, and we just focus on what is new."  

Alejandro Ferrer, Ph.D.

Mayo Clinic investigated approximately 700 rare disease cases in 2021, providing a conclusive diagnosis to nearly one-third of patients, including 14 patients with newly discovered gene-disease associations.  

"As scientific understanding continues to expand, my hope is that by reanalyzing data periodically, we can potentially help more people find answers," Dr. Klee says. “We are committed to continue exploring and implementing new approaches to benefit our patients.”

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Mayo Clinic has joined a new Rare Disease Centers of Excellence network, which consists of a select group of 31 medical centers across the U.S. This network, which is led by the National Organization for Rare Disorders (NORD), seeks to:

• Promote knowledge sharing between experts across the U.S.
• Connect patients to appropriate specialists, regardless of disease or geography.
• Improve the pace of progress in rare disease diagnosis, treatment and research.

The collaboration builds on Mayo Clinic's decades of work to provide diagnoses, treatment and care for patients with rare diseases. Mayo Clinic's team of clinicians and researchers used sophisticated genomic sequencing, and research, to investigate more than 700 undiagnosed rare disease cases in 2020. The team provided answers about the root genetic cause of disease to nearly 30% of patients.

Dusica Babovic-Vuksanovic, M.D., a clinical genomicist with Mayo Clinic's Department of Clinical Genomics, says diagnosing a rare disease is an important first step for a treatment or cure.

"Our clinicians have described rare diseases, including Stickler syndrome and Michels syndrome, and have developed new therapies for rare disease," says Dr. Babovic-Vuksanovic. "We have multiple clinics and programs of excellence throughout the institution, and this designation as a Rare Disease Center of Excellence network will further enhance our ability to make a difference for patients with rare conditions through networking with other centers in collaborative research, delivering state-of-the-art clinical care and developing guidelines for management of rare disease."

Konstantinos Lazaridis, M.D., the Carlson and Nelson Endowed Executive Director for Mayo Clinic's Center for Individualized Medicine, says Mayo Clinic is in a unique position to improve diagnoses and fuel new discoveries to enhance the care of patients with rare diseases.

"Rare diseases come in different categories. Rare diseases could be undiagnosed or diagnosed, single gene-mendelian disorders, or genetically complex diseases as the result of a gene crossed with environmental interactions," explains Dr. Lazaridis. "Mayo Clinic, through the collaborative efforts of the Department of Clinical Genomics and the Center for Individualized Medicine, is uniquely poised to address the needs of patients with rare disease. This new collaboration with the Rare Disease Centers of Excellence Network will be key to expanding our knowledge, and giving hope to patients and families who are desperate for a diagnosis or a better therapy for a rare disease."

Many patients with rare diseases search for answers for eight to 10 years on average, propelled through a marathon of health care provider visits and tests. Collectively, rare diseases are relatively common. As many as 30 million people in the U.S. have a rare disease.

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When patients' illnesses are a mystery and their symptoms have defied a diagnosis, they often turn to Mayo Clinic. There a team of genomic-oriented clinicians and researchers within the Center for Individualized Medicine pursue every possible clue to solve these complex cases. 

As many as 30 million Americans have a rare disease. Many patients search an average of eight to 10 years for answers, while being propelled through a marathon of health care provider visits and tests. Rare diseases are chronic, debilitating and even deadly.

Over 80% of rare diseases are caused by genetic variations that can strike at any age. This makes them a prime candidate for in-depth genetic testing, given technological advances of DNA sequencing.

Feb. 28 has been designated Rare Disease Day to raise awareness that, collectively, rare diseases are relatively common.

Focusing on patients' genetic data to solve mysterious illnesses

"Rare is not rare to us," says Konstantinos Lazaridis, M.D., who directs the center's Program for Rare and Undiagnosed Diseases. "Mayo Clinic has over 3,800 researchers who relentlessly pursue discoveries that will deliver hope and better health to people today and for generations to come." 

The Program for Rare and Undiagnosed Diseases, which launched in April 2019, builds on Mayo Clinic's decades of work to provide diagnoses, treatment and care for patients with rare diseases. Using sophisticated genomic and multiomic testing and sequencing, along with worldwide research, the program has successfully unveiled a genetic cause for an undiagnosed patient in more than 25% of cases. 

^{"Rare is not rare to us. "Mayo Clinic has over 3,800 researchers who relentlessly pursue discoveries that will deliver hope and better health to people today and for generations to come." - Dr. Lazaridis}

"For patients who do not receive an initial diagnosis, we never give up," says Filippo Pinto e Vairo, M.D., Ph.D., the program's medical director.

Dr. Pinto e Vairo is involved in investigating nearly every patient's rare disease case that comes through the program. It starts when a Mayo provider suspects a patient's confounding symptoms could be caused by a genetic variant.

"First, we develop a test called a multigene panel that analyzes a set of genes at once to look for variations," Dr. Pinto e Vairo explains. "So, for example, if the patient's illness is related to kidney failure, instead of looking at the 20,000 genes, we can start with a focused analysis and look at 300 to 400 genes that are broad in scope but highly expressed in the kidney."

When the clinical genetic report is complete, revealing any genetic variants, Dr. Pinto e Vairo and his team scour the data. 

"In this report, there could be a handful of genetic variants, but often, there are variants of undetermined significance," Dr. Pinto e Vairo says. "So our job is to make sense of these clinical results."

^{"For patients who do not receive an initial diagnosis, we never give up." - Dr. Pinto e Vairo}

After a thorough investigation, which sometimes includes comparing genetic data to other patient cases with similar symptoms and variants, Dr. Pinto e Vairo and his team of genetic experts meet with the patient's providers.

"We discuss these data, we review the results and then we propose next steps," he says. "Sometimes that means more clinical tests, more comprehensive genetic testing or even research options."

Throughout the process, genetic counselors provide the patient with ongoing education and information about their genetic data.

For patients who receive a diagnosis, the results can be life-changing, or even lifesaving, including for their family members, who may also carry the genetic variant. A diagnosis is key to determining a potential treatment — usually an existing drug that is used to treat another condition. 

"I chose to be a medical geneticist because I want to help these patients and make a difference in their lives," Dr. Pinto e Vairo says. "It's very difficult to treat most of these patients and change the disease course, but that's what makes me want to work for them, look after them and try to at least relieve some of their symptoms."

Rare disease biobank serves as critical research arsenal

For patients who come away without a treatment or diagnosis, the program's work continues.

"Our Program for Rare and Undiagnosed Diseases is more than just clinical. This is an innovative research program of discovery, science and technology," says Carri Prochnow, program manager. 

To advance discoveries, Prochnow says the program launched a rare disease biobank to be a critical research arsenal for genetics scientists to study and compare variants and patient data. 

"The hope is, as cohorts of patients with similar phenotypes are obtained, our researchers could help solve those rare disease cases by identifying the genetic mutations causing the disease and provide answers to patients whose cases have not yet been resolved," Prochnow says.

^{"Our Program for Rare and Undiagnosed Diseases is more than just clinical. This is an innovative research program of discovery, science and technology." - Carri Prochnow}

Prochnow says the program evaluated 150 patients in 2020 and opened 14 rare disease clinics across multiple subspecialty practices at Mayo Clinic's campuses in Arizona, Florida and Minnesota, with plans to open 10 more in 2021.

"I'm passionate about helping our patients, and I want this program to be a place where people come to find answers because they know that we will do everything possible to help them," says Prochnow.

Her sentiment is shared by many who work in the program.

Elizabeth Burke, an associate clinical research coordinator, often connects with patients and their families when research follow-up is possible to help solve a case. She does the same when research follow-up is not possible.

"We all have the same goal in mind, and that's advancing patient care," Burke says. "These patients are so inspiring, and they've been through so much. Not everyone gets an answer, but we're making sure these rare diseases are studied and known in hopes of resolving more cases in the future.

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As many as 25 million Americans – about 1 in 13 people - suffer from a rare, undiagnosed condition.* April 29 has been 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.

“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 Exchange – a platform for building evidence for genes implicated, but not proven to be linked to disease.

Information 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.

“We are in a unique timeframe 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 improved.”

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

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Learn from and network with researchers and innovators in oncology at Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics

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

Key themes include:

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

The post Science Saturday: Rare, undiagnosed diseases are relatively common appeared first on Mayo Clinic News Network.

Many people have moments when they are clumsy – accidentally spilling things or stumbling when they walk. In hindsight, these events were early signs that twins Katie and Allie Buryk had late onset Tay-Sachs disease, a rare genetic disorder.

But it wasn’t until one day when the two sisters were home from college that their mother, Alexis, noticed that something was wrong. Neither Katie nor Allie had the strength in their legs to easily stand – both needed their hands for support.

What followed was a long search for a diagnosis, and then a call to action. Mayo Clinic physicians have been alongside the twins during their journey.

Finally – a diagnosis

After years of doctor’s appointments and tests, Katie and Allie finally got an answer to explain their symptoms. In 2014, genomic testing revealed the twins’ had late onset Tay-Sachs disease, a rare inherited disorder that causes progressive neurological damage.

Mayo physicians collaborated with the twins’ physicians to confirm the diagnosis. Marc Patterson, M.D., a Mayo Clinic neurologist, and his colleagues reviewed the sisters’ genetic test results and clinical information and suggested strategies to manage the twins’ symptoms.

“I was glad to have a diagnosis because in my mind I knew something was wrong. I don’t want doctors to write patients off just because we are a medical mystery, a challenge.” - Katie Buryk

“I was glad to have a diagnosis because in my mind I knew something was wrong,” says Kate. “I don’t want doctors to write patients off just because we are a medical mystery, a challenge.”

So what is Tay-Sachs and how rare is it?

Tay-Sachs is one of approximately 50 inherited lysosomal storage disorders. Patients with these diseases are missing certain enzymes, which cause build-up of toxic materials in their body’s cells. Tay-Sachs patients are missing an enzyme that helps break down fatty substances. As these substances build up in nerve cells, they cause progressive neurological damage.

People with ancestors from eastern and central European Jewish communities, certain French Canadian communities and the Cajun community in Louisiana are at increased risk for the disease. Fewer than 100 cases of Tay-Sachs are diagnosed each year, most commonly in infants and children. There is no cure or approved treatment for the disorder.

Dr. Patterson explains why Tay-Sachs and other rare diseases can be difficult to identify.

“There are more than 5,000 rare diseases that affect 25 million people in the U.S. Because disorders like Tay-Sachs are so rare, symptoms are often missed,” says Dr. Patterson. “Mayo Clinic researchers are working every day to find therapies for diseases for which there are no treatments, aiming to be the bridge from hope to healing.”

Despite challenges, motivated to raise awareness

Each day, Katie and Allie manage their symptoms as they carry on with their respective careers.

Katie’s disease has progressed more rapidly. She has more difficulty walking long distances and climbing stairs. As a result, she has relocated from New York to Hilton Head, South Carolina, where she works remotely as an assistant planner for a large retailer.

Allie works as a nurse, caring for stroke patients and others with severe neurological problems, and is also pursuing a master’s degree. While she has fewer mobility problems than Katie, Allie has experienced changes to her speech, making it hard for people to understand her when she speaks quickly.

Despite their challenges, the Buryk family is committed to building awareness about Tay-Sachs disease. They have created a fund to help support Tay-Sachs research through the National Tay-Sachs & Allied Diseases Association.

This past fall, Katie and Allie shared their story at Individualizing Medicine Conference 2017: Advancing Care Through Genomics, hosted by Mayo Clinic Center for Individualized Medicine. They had the chance to learn firsthand how researchers from Mayo Clinic and around the world were coming together to find treatments for rare diseases like Tay-Sachs.

“It’s exciting to see the research underway. I hope that our efforts to build awareness will someday lead to finding a treatment and cure,” says Katie.

Knowledge is power

During the last two decades, great strides have been made in understanding the genomic mechanisms behind Tay-Sachs. This knowledge also sheds light on the underlying causes of more common neurological disorders, such as Alzheimer’s and Parkinson’s disease.

“We now have a genetic test to diagnose Tay-Sachs that we hope will someday be used for newborn screening. This test can also identify whether prospective parents are carriers, which is important information for family planning.” - Marc Patterson, M.D.

“We now have a genetic test to diagnose Tay-Sachs that we hope will someday be used for newborn screening. This test can also identify whether prospective parents are carriers, which is important information for family planning,” says Dr. Patterson

Allie echoed Dr. Patterson’s enthusiasm for genetic testing.

“If everyone had the chance to have genetic testing, they would learn a lot about themselves. Knowledge is power,” she says.

Watch a video: Katie and Allie Buryk’s Story: Research for Individually Rare, but Collectively Common Diseases.

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Paige Whorton’s zeal for life is infectious. “I like parasailing, exploring, and zip lining — daredevil stuff,” she says with a giggle.

However, pain in her joints, building for years, was slowing her down.

“My bones and joints would hurt when I would run. I couldn’t do anything fun with friends. It was more like, ‘let’s sit down and play dolls’,” she says with a poise that belies her 13 years.

After a years-long trail of medical appointments and uncertain test results, Paige’s condition rapidly declined. In constant pain, she completed the second half of sixth grade at home.

Referral to Mayo Clinic

Working with a team of two research fellows at Mayo Clinic, Brendan Lanpher, M.D., a geneticist, led the efforts to find Paige’s diagnosis.

He immediately suspected lysosomal storage diseases, a group of rare inherited disorders in which enzymes don’t properly break down complex molecules, causing accumulation and damage to bone, heart and other tissues.

“She had a number of symptoms that were all subtle, but suggested a pattern that pointed to metabolic storage disorder. Left untreated, these diseases can cause premature death,” says Dr. Lanpher.

A near strike out

Dr. Lanpher’s team worked quickly and collaboratively to seek an answer.

In baseball metaphors, it would take three strikes before the game winning home run that secured treatment to save Paige’s life.

The first screening, a urine test was just slightly beyond normal. Strike one. This is where other providers stopped and sent Paige home.

“Because all her symptoms fit the profile of lysosomal storage disease, it made sense to keep testing,” says Erin Conboy, M.D., a biochemical genetics fellow. “We moved on to whole exome DNA testing, which examines all the disease causing genes.”

To confirm her disease, Paige’s DNA needed to show two copies of a genetic mutation. However, the results showed only one. Strike two.

The team from Mayo Clinic’s Department of Clinical Genomics within the Center for Individualized Medicine dug deeper into research for an answer.

“We rely on computers to help us find genetic alterations. It was clear that we needed to look deeper within the gene to find the second mutation. To do, that we expanded the computer analysis to a little known area outside the defined region. We finally found it in a region that the computer analysis typically does not cover,” says Filippo Pinto e Vairo, M.D., Ph.D., a research fellow.

Confirming the diagnosis

That finding confirmed Paige’s diagnosis: mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, a rare form of lysosomal storage disease.

One final step stood between Paige and treatment: the team needed a biochemistry test to prove Paige’s enzymes weren’t working, and that replacement therapy was the proper treatment.  But, the first test showed her enzymes were normal. Strike three.

“We were convinced we had the right diagnosis,” says Dr. Conboy. “We knew there was a flaw in this test that was done at a lab outside of Mayo. So, we sent it to a different lab.”

The second test confirmed Paige’s enzymes weren’t working, and the team had the right course of treatment. Home run!

“I’m so proud of my team. I am confident this diagnosis would have been missed just about anywhere else. This was a complex case that no single one of us could have solved on our own.” - Brendan Lanpher, M.D.

To stop the progression of the disease Paige is receiving weekly enzyme replacement therapy that will continue for the rest of her life.

“I’m so proud of my team. I am confident this diagnosis would have been missed just about anywhere else. This was a complex case that no single one of us could have solved on our own,” says Dr. Lanpher.

Watch a video to hear from Paige and her family about her path to a diagnosis.

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See highlights from our recent Individualizing Medicine Conference 2017: Advancing Care Through Genomics:

• #CIMCon17 is underway
• #CIMCon17 continues with the microbiome and more
• #CIMCon17 day two explores how precision medicine can improve population health
• #CIMCon17 - precision-medicine for smoking cessation, rare diseases and cancer screening

Save the date for next year’s Individualizing Medicine Conference. It will be held Sept. 12-13, 2018.

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On the Mayo Clinic Radio podcast, Dr. David Midthun, a pulmonary and critical care physician at Mayo Clinic, and Dr. J. Taylor Hays, an internal medicine specialist at Mayo Clinic, explain how a new study combines lung cancer screening with proactive referrals and increased communication to help people quit smoking. Also on the podcast, Dr. William Gahl, clinical director of the National Institutes of Health's Genetic and Rare Diseases Program, discusses rare and undiagnosed diseases. And Dr. Timothy Curry, director of the education program at the Mayo Clinic Center for Individualized Medicine, and Dr. Halena Gazelka, assistant professor of anesthesiology and perioperative medicine at Mayo Clinic, share the latest research on pharmacogenomics and pain medication.

The post #MayoClinicRadio podcast: 11/11/17 appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. David Midthun, a pulmonary and critical care physician at Mayo Clinic, and Dr. J. Taylor Hays, an internal medicine specialist at Mayo Clinic, will explain how a new study combines lung cancer screening with proactive referrals and increased communication to help people quit smoking.

Also on the program, Dr. William Gahl, clinical director of the National Institutes of Health's Genetic and Rare Diseases Program, will discuss rare and undiagnosed diseases. And Dr. Timothy Curry, director of the education program at the Mayo Clinic Center for Individualized Medicine, and Dr. Halena Gazelka, assistant professor of anesthesiology and perioperative medicine at Mayo Clinic, will share the latest research on pharmacogenomics and pain medication.

To hear the program, find an affiliate in your area.

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Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

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On the next Mayo Clinic Radio program, Dr. David Midthun, a pulmonary and critical care physician at Mayo Clinic, and Dr. J. Taylor Hays, an internal medicine specialist at Mayo Clinic, will explain how a new study combines lung cancer screening with proactive referrals and increased communication to help people quit smoking.

Also on the program, Dr. William Gahl, clinical director of the National Institutes of Health's Genetic and Rare Diseases Program, will discuss rare and undiagnosed diseases. And Dr. Timothy Curry, director of the education program at the Mayo Clinic Center for Individualized Medicine, and Dr. Halena Gazelka, assistant professor of anesthesiology and perioperative medicine at Mayo Clinic, will share the latest research on pharmacogenomics and pain medication.

To hear the program, find an affiliate in your area.

Miss the show?  Here's your Mayo Clinic Radio podcast.

Follow #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

Access archived shows.

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Karter Malcomson’s cherubic face, inquisitive eyes and wide smile are magnetic. Behind them is a two- year-old boy with a rare disease that’s generated more medical mysteries in his short life than many face in an entire lifetime.  His circuitous journey to a diagnosis took his case before the Functional Genomics Team– the A team of exome experts at Center for Individualized Medicine – that works tirelessly to solve rare and undiagnosed diseases.  It was a path that began even before he was born.

“When I got my first ultrasound, we noticed he was not growing as he should be. He had extra digits. When they tell you this, you never know what is going to happen,” said Kerrie Lemois, Karter’s mother.

Reviewing the prenatal records, physicians from the Department of Clinical Genomics suspected a genetic link to Karter’s disorder. Upon his birth and evaluation, they quickly referred him for genetic testing.

“Based on his medical history and deformities at birth, we immediately suspected the diagnosis was within a particular group of disorders. We knew he had several birth defects, but suspected there may have been other organ systems involved. Our studies revealed additional findings associated with a suspected group of genetic disorders, confirming that we were on the right path. To confirm the diagnosis, we needed genetic testing,” said Pavel Pichurin, M.D., a medical geneticist.

There are different approaches for genetic testing, and the choice of test can be driven by multiple factors, In this case, Dr. Pichurin ordered whole exome testing – a test of over 20,000 genes that today gives physicians and scientists the most information about health and disease. This testing identified genetic changes in both copies of a little-known gene.

“When we got this information, we were hopeful that the results might hold the clues to Karter’s disorder,” said Nicole Boczek, Ph.D., a molecular geneticist. “Right about the time we received the results, a paper had been published that described three cases of genetic variants in the same gene as Karter’s. If Karter had this disorder, he was only the fourth case in the world described in scientific literature.”

In order to prove that the identified DNA changes were related to his disorder, the Functional Genomics team applied an additional technology, RNA sequencing. RNA sequencing allowed the team to see if there were abnormalities in the messages that create protein in the human body. This strategy provided evidence that the identified DNA changes were causing genetic abnormalities, matching Karter to the cases in the research paper. That allowed for a diagnosis: Oral Digital Facial Syndrome Type 14. With a diagnosis, scientists and physicians are able to build information about what to expect in the future. They can put families facing this rare disease in touch with one another as a support group that can learn from each other.

Watch a video on Karter's story

Read more about Karter and the Functional Genomics Team on page 46 of  Mayo Clinic Magazine

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