On the next Mayo Clinic Radio program, Dr. Paul Scanlon, a pulmonologist at Mayo Clinic, will cover COPD treatment and prevention. Also on the program, Dr. Alice Gallo De Moraes, a critical care specialist at Mayo Clinic, will explain the dangerous and sometimes deadly illness, sepsis. And Dr. Eric Green, director of the National Human Genome Research Institute, will give an update on advances in human genome research.

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

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

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

The post Mayo Clinic Radio: Chronic obstructive pulmonary disease (COPD) appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. Paul Scanlon, a pulmonologist at Mayo Clinic, will cover COPD treatment and prevention. Also on the program, Dr. Alice Gallo De Moraes, a critical care specialist at Mayo Clinic, will explain the dangerous and sometimes deadly illness, sepsis. And Dr. Eric Green, director of the National Human Genome Research Institute, will give an update on advances in human genome research.

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

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

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

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

The post Mayo Clinic Radio: COPD / sepsis / advances in human genome research appeared first on Mayo Clinic News Network.

In 1999, as a promising young physician-scientist, Konstantinos Lazaridis, M.D. was given an opportunity for additional research training as a Mayo Clinic Scholar. With the goal to establish an innovative, research program on liver disease in the Division of Gastroenterology and Hepatology his mentors suggested he make a choice between studying human genomics and hepatitis C virology. He chose the former in a heartbeat.

“This was an easy decision. At that time, the Human Genome Project was well underway and the promise of genomics in medicine was overwhelming”, says Dr. Lazaridis.

He interviewed with luminary scientists of the field, Eric Lander, Ph.D., at the Massachusetts Institute of Technology and Francis Collins, M.D., Ph.D., at the National Human Genome Research Institute (NHGRI), for the opportunity to join one of their laboratories as a Mayo Clinic Scholar.  He got a spot at both places, and made another key decision.

“I decided to join the Collins’ laboratory because the project that Francis proposed to work on for my training in genomics – dissecting the genetics of type 2 diabetes - could serve as a prototype for what I envisioned to develop in cholestatic liver disease.” says Dr. Lazaridis. “I saw the potential of genomics to reveal answers where there were none and opportunities to better understand disease pathogenesis tailored to an individual patient’s genetic blueprint.  I have not regretted either choice even nearly two decades later.”

Dr. Lazaridis, a hepatologist, brought that vision and training back to Mayo Clinic and started his own research program dedicated to dissecting the genetic contributions of rare, progressive, cholestatic liver diseases, such as primary biliary cholangitis (PBC) and primary sclerosing cholangitis (PSC), the latter of which has no medical cure.

In 2011, he joined the Mayo Clinic Center for Individualized Medicine (CIM) as the associate director in Rochester. He is also the co-director of CIM’s Clinomics Program, a program that seeks to transform patient care with genomic-based tests. In these roles, Dr. Lazaridis is applying lessons learned from his own laboratory, working with a team of clinicians and researchers to find answers and individualized therapies for patients with a variety of diseases.

“Through my work with CIM, we are continually looking for novel ways to apply promising technologies such whole exome sequencing to find answers for patients. We’ve made great strides, but our work in several areas is just beginning,” says Dr. Lazaridis.

Using genomics to improve care of rare liver diseases

During his time as a Mayo Clinic Scholar in Genomics at NIH, Dr. Lazaridis says he had the good fortune to learn directly from Dr. Collins, director of the NHGRI and the Human Genome Project at that time and now the National Institutes of Health director.

“Prior to my research experience at the NHGRI, I was trained as a cellular and molecular biologist. My interaction with Francis was catalytic to the way I think about and study disease as well as to realize the importance of biobanking human specimens for studies. Francis motto is that every disease has an element of genetic contribution to it – even trauma. I was effectively brain-washed by my mentor!” jokes Dr. Lazaridis.

Through the Genomic Hepatobiology Laboratory, the research program he established at Mayo Clinic, Dr. Lazaridis is applying this knowledge to improve care for patients with chronic liver disease.

“Our goal is to better delineate the genetic and environmental factors that predispose patients to develop PSC and PBC, chronic liver diseases that over time cause liver cirrhosis and failure, which can be fatal. Our current treatments for these disorders only manage symptoms or temporarily halt damage to the liver. Ultimately, those patients who progress to liver failure must undergo liver transplantation. In some cases, the diseases can recur even after transplantation. So there is a great need to develop new, ideally individualized therapies that offer relief for debilitating symptoms and prevent further liver damage,” says Dr. Lazaridis.

Over the last 10 years, Dr. Lazaridis and his colleagues have made several advances towards better understanding these diseases, including:

• Creating the largest research resource of and family registry for PSC and PBC patients in the United States: have compiled the most comprehensive collection of biospecimen samples from more than 1,500 patients with each disease and their family members. This unique resource is being used to dissect the causes of PBC and PSC in order to develop new predictive tools of disease outcome and treatments for patients affected by these conditions.
• Identifying genetic variants linked to PSC and PSC: have found more than 20 genetic variants associated with each disease, recently publishing the discovery of four new genetic variations linked to PSC in Nature Genetics.
• Discovering the environmental exposure(s) that contribute to PSC and PBC development: have found specific chemical exposures associated with each disease. As researchers learn more about the role of environmental factors such as diet and exposure to bacteria and how they interact with, the genetic variants they hope to use this information to understand the development and devise new, personalized therapies for these patients.

Join the conversation

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

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.

The post Finding individualized treatments in liver disease and beyond appeared first on Mayo Clinic News Network.

The genetic variants, in two telomere-related genes known as TERT and TERC, are respectively carried by 51 percent and 72 percent of the general population. Because it is somewhat unusual for such risk-conferring variants to be carried by a majority of people, the researchers propose that, in these carriers, the overall cellular robustness afforded by longer telomeres trumps the increased risk of high-grade gliomas, which are invariably fatal but relatively rare.

The research was published online in the journal Nature Genetics.

“There are clearly high barriers to developing gliomas, perhaps because the brain is specially protected,” says Robert Jenkins, M.D., Ph.D., a pathologist at Mayo Clinic. “It’s not uncommon for people diagnosed with glioma to comment, ‘I’ve never been sick in my life.’”

In the first phase of the new study, researchers at Mayo Clinic and the University of California San Francisco analyzed genome-wide data from 1,644 glioma patients and 7,736 healthy control individuals, including some who took part in The Cancer Genome Atlas project sponsored by the National Cancer Institute and National Human Genome Research Institute. This work confirmed a link between TERT and gliomas that had been made previously; they also identified TERC as a glioma risk factor for the first time.

Since both genes have known roles in regulating the action of telomerase, the enzyme that maintains telomere length, the research team combed a massive genomic analysis of telomere length in nearly 40,000 individuals conducted at the University of Leicester in the United Kingdom and found that the same TERT and TERC variants associated with glioma risk were also associated with greater telomere length.

“So, though longer telomeres may be good for your whole person by reducing many health risks and slowing aging, they might also cause some cells to live longer than they’re supposed to, which may predispose someone to cancer,” Dr. Jenkins says.

Dr. Jenkins says the relevance of the new research should extend beyond gliomas, since similar TERT variants have also been implicated in lung, prostate, testicular and breast cancers, and TERC variantsin leukemia, colon cancer and multiple myeloma.

In addition to Mayo Clinic, research for this study was conducted at the University of California San Francisco, the University of Leicester in the United Kingdom and the University Medical Center Groningen in the Netherlands.

About Mayo Clinic Cancer Center
As a leading institution funded by the National Cancer Institute, Mayo Clinic Cancer Centerconducts basic, clinical and population science research, translating discoveries into improved methods for prevention, diagnosis, prognosis and therapy. For information on cancer clinical trials, call 855-776-0015 toll free.

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AboutMayo Clinic
Recognizing 150 years of serving humanity in 2014, Mayo Clinic is a nonprofit worldwide leader in medical care, research and education for people from all walks of life. For more information, visit 150 years.mayoclinic.org, http://www.mayoclinic.org/ and newsnetwork.mayoclinic.org.

MEDIA CONTACT:
Joe Dangor, Mayo Clinic Public Affairs, 507-284-5005, newsbureau@mayo.edu

The post Longer Telomeres, Considered Sign of Good Health, Linked to Brain Cancer Risk appeared first on Mayo Clinic News Network.

ROCHESTER, Minn. — Friday, April 25, is National DNA Day, the date which commemorates completion of the Human Genome Project, the national effort to identify and decode all 6 billion letters in human DNA. Since that time, medical researchers and practitioners have found new ways to apply genomics for everyone who needs healing, and thanks to staggering technological advancements and next-generation sequencing, the cost to sequence a patient’s genome has decreased from $3 billion for the first human genome in 2003 to approximately $1,500.

MEDIA: Gianrico Farrugia, M.D., director of the Mayo Clinic Center for Individualized Medicine, is available for interviews and background about the future of genomic medicine, as well as information about the latest practices and transformative clinical trials. To interview Dr. Farrugia contact Sam Smith, Mayo Clinic Public Affairs, 507-284-5005, newsbureau@mayo.edu

Watch video on genome sequencing:

Suggested topics for Dr. Farrugia to discuss:

• Medicine Meant for Me: Genetic tests to determine drug efficacy are an important new tool physicians can use to tailor health care. Mayo Clinic and other medical centers are embedding this information in patients’ electronic medical records to help prevent adverse drug reactions.
• One in a Billion: Each person’s genetic code has roughly 6 billion letters of DNA code. Technological advances have accelerated the ability to read and interpret this data, helping patients with rare or completely unknown genetic conditions find answers,  giving peace of mind to their families. Patient cases are available.
• Cancer’s Worst Enemy: Mayo Clinic is conducting several leading-edge studies around cancer, including taking breast cancer cells from women who have a high risk of recurrence and growing tumors outside their bodies to develop and test new targeted therapies. Mayo Clinic is the only institution to sequence tumor and normal genomes before, in the middle of and after chemotherapy.

Ten facts about DNA and genomics in medicine:

1. There are 31 markers commonly used in cancer care, according to the National Cancer Institute. Using new sequencing technologies, researchers can identify hundreds of markers in individual tumors within a few days.
2. There are more than 7,000 diseases considered rare in the U.S., most of which have some genomic or inherited component, according to the National Organization of Rare Disorders.
3. The Food and Drug Administration lists 155 drugs known to have sensitivity to individual genomic makeup. That number is expected to increase dramatically as sequencing drives rapid discovery.
4. DNA stands for deoxyribonucleic acid.
5. There are approximately 6 billion letters in the average human genome.
6. Spelled out, each person’s genome would fill 1,000 New York City telephone books.
7. Nearly all of the roughly 25 trillion cells in the human body have identical sets of DNA contained in the cell nucleus.
8. When uncoiled, the DNA contained in every cell nucleus measures about 6 feet in length.
9. It took about 10 years and cost nearly $3 billion to sequence the first human genome. It can now be done in a few days for roughly $1,500.
10. All humans are about 99.9 percent identical. Less than 0.1 of 1 percent makes us individuals.

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About Mayo Clinic
Recognizing 150 years of serving humanity in 2014, Mayo Clinic is a nonprofit worldwide leader in medical care, research and education for people from all walks of life. For more information, visit 150years.mayoclinic.org, http://www.mayoclinic.org/ and newsnetwork.mayoclinic.org.

About the Mayo Clinic Center for Individualized Medicine
The Mayo Clinic Center for Individualized Medicine is home to the Individualized Medicine Clinic, the world’s first integrated multidisciplinary genomics clinic, serving patients with advanced cancer and complex diagnoses. The center discovers and integrates the latest in genomic, molecular and clinical sciences into personalized care for each Mayo Clinic patient. Visit http://mayoresearch.mayo.edu/center-for-individualized-medicine for more information.

The post National DNA Day is April 25; Experts Available for Comment appeared first on Mayo Clinic News Network.

Individualizing Medicine 2013: From Promise to Practice, that's the name of a conference at Mayo Clinic in Rochester, Minn., this week focusing on how to translate the promise of genomic medicine into ongoing patient care. Genomics is the study of our genetic material, which determines everything from the color of our hair to which diseases we may be at risk of developing.

That's why hundreds of physicians, researchers, scientists, medical staff, genetics counselors and others are gathering to see how the science of genomics is helping heal patients today. Richard Weinshilboum, M.D., the director of the Pharmacogenomics Program at Mayo's Center for Individualized Medicine (CIM), says the field is no longer the stuff of science fiction.

The conference continues through 12 p.m. Wednesday, Oct 2. Members of the media wishing to cover the event or interview speakers may contact Bob Nellis at Nellis.Robert@mayo.edu. Follow #CIMcon2013

/// SOT  01:48:01 (Richard Weinshilboum, M.D., Mayo Clinic Genomics Expert) "This part of medicine is ready for prime time. The Food and Drug Administration has a website where they list gene-drug pairs that they say physicians need to know about. What we’re trying to do at Mayo is make that information readily available to physicians in a user-friendly fashion."  TRT :17

To take it a step further, Eric Green, M.D., Ph.D., the director of the National Human Genome Research Institute, says, in many cases, doctors can do a test on a cancerous tumor or a patient's tissues and know in advance if the treatment they choose has good chance of working.

/// SOT  01:41:38 (Eric Green, M.D., Ph.D., National Human Genome Research Institute) “Now we can open up a person’s genome, look inside, and say, ‘Wow, you’re going to be a good responder or you’re going to be a bad responder to this medication and before we give you this medication, let’s learn that.”    TRT :10 

Dr. Green says it's important for patients to learn about genomics to take full advantage of this exciting medical field's potential. However, he adds, it's not just up to doctors and scientists to chart its future course. He says it's essential for the public to determine what are and are not appropriate uses for the technology.

The post Mayo Clinic Hosts Conference on the Genetics of Healing appeared first on Mayo Clinic News Network.