Category Archives: Genetic Medicine

Personalized medicine, which involves tailoring health care to each persons unique genetic makeup, has the potential to transform how we diagnose, prevent and treat disease. After all, no two people are alike. Mapping a persons unique susceptibility to disease and targeting the right treatment has deservedly been welcomed as a new power to heal.

The human genome, a complete set of human DNA, was identified and mapped a decade ago. But genomic science remains in its infancy. According to Francis Collins, the director of the National Institutes of Health, It is fair to say that the Human Genome Project has not yet directly affected the health care of most individuals.

Its not that there havent been tremendous breakthroughs. Its just that the gap between science and its ability to benefit most patients remains wide. This is mainly because we dont yet fully understand the complex pathways involved in common chronic diseases.

I am part of a research team that has taken on the ambitious goal of narrowing this gap. New technologies are allowing us to probe DNA, RNA, proteins and gut bacteria in a way that will change our understanding of health and disease. Our hope is to discover novel biological markers that can be used to diagnose and treat common chronic conditions, including Alzheimers disease, heart disease, diabetes and cancer.

But when it comes to preventing the leading causes of death which include chronic diseases, genomics and precision medicine may not do as much as we hope.

Chronic diseases are only partially heritable. This means that the genes you inherit from your parents arent entirely responsible for your risk of getting most chronic diseases.

The estimated heritability of heart disease is about 50 percent. Its 64 percent for Type 2 diabetes mellitus, and 58 percent for Alzheimers disease. Our environment and lifestyle choice are also major factors; they can change or influence how the information coded in our genes is translated.

Chronic diseases are also complex. Rather than being controlled by a few genes that are easy to find, they are weakly influenced by hundreds if not thousands of genes, the majority of which still elude scientists. Unlocking the infinite combinations in which these genes interact with each other and with the environment is a daunting task that will take decades, if ever, to achieve.

While unraveling the genomic complexity of chronic disease is important, it shouldnt detract from existing simple solutions. Many of our deadliest chronic diseases are preventable. For instance, among U.S. adults, more than 90 percent of Type 2 diabetes, 80 percent of coronary arterial disease, 70 percent of stroke and 70 percent of colon cancer are potentially avoidable.

Smoking, weight gain, lack of exercise, poor diet and alcohol consumption are all risk factors for these conditions. Based on their profound impact on gene expression, or how instructions within a gene are manifested, addressing these factors will likely remain fundamental in preventing these illnesses.

A major premise behind personalized medicine is that empowering patients and doctors with more knowledge will lead to better decision-making. With some major advances, this has indeed been the case. For instance, variants in genes that control an enzyme that metabolizes drugs can identify individuals who metabolize some drugs too rapidly (not giving them a chance to work), or too slowly (leading to toxicity). This can lead to changes in medication dosing.

When applied to prevention, however, identifying our susceptibility at an earlier stage has not aided in avoiding chronic diseases. Research challenges the assumption that we will use genetic markers to change our behavior. More knowledge may nudge intent, but that doesnt translate to motivating changes to our lifestyle.

A recent review found that even when people knew their personal genetic risk of disease, they were no more likely to quit smoking, change their diet or exercise. Expectations that communicating DNA-based risk estimates changes behavior is not supported by existing evidence, the authors conclude.

Increased knowledge may even have the unintended consequence of shifting the focus to personal responsibility while detracting from our joint responsibility for improving public health. Reducing the prevalence of chronic diseases will require changing the political, social and economic environment within which we make choices as well as individual effort.

Perhaps the most awaited hope of the genomic era is that we will be able to develop targeted treatments based on detailed molecular profiling. The implication is that we will be able to subdivide disease into new classifications. Rather than viewing Type 2 diabetes as one disease, for example, we may discover many unique subtypes of diabetes.

This already is happening with some cancers. Patients with melanoma, leukemia or metastatic lung, breast or brain cancers can, in some cases, be offered a molecular diagnosis to tailor their treatment and improve their chance of survival.

We have been able to make progress in cancer therapy and drug safety and efficacy because specific gene mutations control a persons response to these treatments. But for complex, chronic diseases, relatively few personalized targeted treatments exist.

Customizing treatments based on our uniqueness will be a breakthrough, but it also poses a challenge: Without the ability to test targeted treatments on large populations, it will make it infinitely harder to discover and predict their response.

The very reason we group people with the same signs and symptoms into diagnoses is to help predict the average response to treatment. There may be a time when we have one-person trials that custom tailor treatment. However, the anticipation is that the timeline to getting to such trials will be long, the failure rate high and the cost exorbitant.

Research that takes genetic risk of diabetes into account has found greater benefit in targeting prevention efforts to all people with obesity rather than targeting efforts based on genetic risk.

We also have to consider decades of research on chronic diseases that suggest there are inherent limitations to preventing the global prevalence of these diseases with genomic solutions. For most of us, personalized medicine will likely complement rather than replace one-size-fits-all medicine.

Where does that leave us? Despite the inherent limitations to the ability of genomic medicine to transform health care, medicine in the future should unquestionably aspire to be personal. Genomics and molecular biosciences will need to be used holistically in the context of a persons health, beliefs and attitudes to fulfill their power to greatly enhance medicine.

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Soon, Medication Will be Custom Tailored to Your Specific Genetics - Futurism

Clues to relationship between schizophrenia and rheumatoid arthritis Science Daily ... so we wondered if individual genetic variants may exist that could have opposing effects on the risk of schizophrenia and rheumatoid arthritis," said co-senior author Vishwajit Nimgaonkar M.D., Ph.D., professor of psychiatry at Pitt's School of ...

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Clues to relationship between schizophrenia and rheumatoid arthritis - Science Daily

February 16, 2017 by Sharon Horesh Bergquist, The Conversation What could genomic medicine do in the future? Credit: http://www.shutterstock.com

Personalized medicine, which involves tailoring health care to each person's unique genetic makeup, has the potential to transform how we diagnose, prevent and treat disease. After all, no two people are alike. Mapping a person's unique susceptibility to disease and targeting the right treatment has deservedly been welcomed as a new power to heal.

The human genome, a complete set of human DNA, was identified and mapped a decade ago. But genomic science remains in its infancy. According to Francis Collins, the director of the National Institutes of Health, "It is fair to say that the Human Genome Project has not yet directly affected the health care of most individuals."

It's not that there haven't been tremendous breakthroughs. It's just that the gap between science and its ability to benefit most patients remains wide. This is mainly because we don't yet fully understand the complex pathways involved in common chronic diseases.

I am part of a research team that has taken on the ambitious goal of narrowing this gap. New technologies are allowing us to probe DNA, RNA, proteins and gut bacteria in a way that will change our understanding of health and disease. Our hope is to discover novel biological markers that can be used to diagnose and treat common chronic conditions, including Alzheimer's disease, heart disease, diabetes and cancer.

But when it comes to preventing the leading causes of death which include chronic diseases, genomics and precision medicine may not do as much as we hope.

Many diseases aren't due only to genetics

Chronic diseases are only partially heritable. This means that the genes you inherit from your parents aren't entirely responsible for your risk of getting most chronic diseases.

The estimated heritability of heart disease is about 50 percent. It's 64 percent for Type 2 diabetes mellitus, and 58 percent for Alzheimer's disease. Our environment and lifestyle choice are also major factors; they can change or influence how the information coded in our genes is translated.

Chronic diseases are also "complex." Rather than being controlled by a few genes that are easy to find, they are weakly influenced by hundreds if not thousands of genes, the majority of which still elude scientists. Unlocking the infinite combinations in which these genes interact with each other and with the environment is a daunting task that will take decades, if ever, to achieve.

While unraveling the genomic complexity of chronic disease is important, it shouldn't detract from existing simple solutions. Many of our deadliest chronic diseases are preventable. For instance, among U.S. adults, more than 90 percent of Type 2 diabetes, 80 percent of coronary arterial disease, 70 percent of stroke and 70 percent of colon cancer are potentially avoidable.

Smoking, weight gain, lack of exercise, poor diet and alcohol consumption are all risk factors for these conditions. Based on their profound impact on gene expression, or how instructions within a gene are manifested, addressing these factors will likely remain fundamental in preventing these illnesses.

Will more knowledge be more power?

A major premise behind personalized medicine is that empowering patients and doctors with more knowledge will lead to better decision-making. With some major advances, this has indeed been the case. For instance, variants in genes that control an enzyme that metabolizes drugs can identify individuals who metabolize some drugs too rapidly (not giving them a chance to work), or too slowly (leading to toxicity). This can lead to changes in medication dosing.

When applied to prevention, however, identifying our susceptibility at an earlier stage has not aided in avoiding chronic diseases. Research challenges the assumption that we will use genetic markers to change our behavior. More knowledge may nudge intent, but that doesn't translate to motivating changes to our lifestyle.

A recent review found that even when people knew their personal genetic risk of disease, they were no more likely to quit smoking, change their diet or exercise. "Expectations that communicating DNA-based risk estimates changes behavior is not supported by existing evidence," the authors conclude.

Increased knowledge may even have the unintended consequence of shifting the focus to personal responsibility while detracting from our joint responsibility for improving public health. Reducing the prevalence of chronic diseases will require changing the political, social and economic environment within which we make choices as well as individual effort.

What about treating chronic diseases?

Perhaps the most awaited hope of the genomic era is that we will be able to develop targeted treatments based on detailed molecular profiling. The implication is that we will be able to subdivide disease into new classifications. Rather than viewing Type 2 diabetes as one disease, for example, we may discover many unique subtypes of diabetes.

This already is happening with some cancers. Patients with melanoma, leukemia or metastatic lung, breast or brain cancers can, in some cases, be offered a "molecular diagnosis" to tailor their treatment and improve their chance of survival.

We have been able to make progress in cancer therapy and drug safety and efficacy because specific gene mutations control a person's response to these treatments. But for complex, chronic diseases, relatively few personalized targeted treatments exist.

Customizing treatments based on our uniqueness will be a breakthrough, but it also poses a challenge: Without the ability to test targeted treatments on large populations, it will make it infinitely harder to discover and predict their response.

The very reason we group people with the same signs and symptoms into diagnoses is to help predict the average response to treatment. There may be a time when we have one-person trials that custom tailor treatment. However, the anticipation is that the timeline to getting to such trials will be long, the failure rate high and the cost exorbitant.

Research that takes genetic risk of diabetes into account has found greater benefit in targeting prevention efforts to all people with obesity rather than targeting efforts based on genetic risk.

We also have to consider decades of research on chronic diseases that suggest there are inherent limitations to preventing the global prevalence of these diseases with genomic solutions. For most of us, personalized medicine will likely complement rather than replace "one-size-fits-all" medicine.

Where does that leave us? Despite the inherent limitations to the ability of genomic medicine to transform health care, medicine in the future should unquestionably aspire to be "personal." Genomics and molecular biosciences will need to be used holistically in the context of a person's health, beliefs and attitudes to fulfill their power to greatly enhance medicine.

Explore further: Gene variants associated with body shape increase risk of heart disease, type 2 diabetes

This article was originally published on The Conversation. Read the original article.

A study from Massachusetts General Hospital (MGH) researchers has found that a pattern of gene variants associated with an "apple-shaped" body type, in which weight is deposited around the abdomen, rather than in the hips ...

People who receive personalized genetic and phenotypic information on their risk of developing diabetes don't significantly increase their physical activity compared to those who get broader, generic information on diabetes, ...

(HealthDay)Considerable costs are associated with absenteeism related to chronic diseases and health risk factors, according to a study published in the Oct. 6 issue of the U.S. Centers for Disease Control and Prevention's ...

A new paper from researchers from Tufts University and colleagues addresses how increased support for minority-focused research, community-based participatory research, and studies of gene-environment interactions may improve ...

According to a report on chronic diseases by Centers for Disease Control and Prevention researchers, published in The Lancet as part of a new Series, The health of Americans, half of all adults in the USA suffer from at least ...

Chronic non-communicable diseases (NCD), such as cardiovascular disease, diabetes, arthritis, chronic respiratory disorders and cancer represent the major global health problem of the 21st century and affect all age groups. ...

Screen time before bed can mess with your sleep. But people without TV and laptops skimp on sleep too, researchers say. A Duke University study of people living without electricity or artificial light in a remote farming ...

In some areas of the U.S., medical providers consistently order more tests and treatments for patients than providers do elsewherea fact that has generated considerable public debate. Now a new study co-authored by MIT ...

Eating carbohydrates during intense exercise helps to minimise exercise-induced immune disturbances and can aid the body's recovery, QUT research has found.

Vitamin D supplements protect against acute respiratory infections including colds and flu, according to a study led by Queen Mary University of London (QMUL).

Rather than inciting fear, anti-smoking campaigns should tap into smokers' memories and tug at their heartstrings, finds a new study by Michigan State University researchers.

Personalized medicine, which involves tailoring health care to each person's unique genetic makeup, has the potential to transform how we diagnose, prevent and treat disease. After all, no two people are alike. Mapping a ...

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Personalized medicine may do more to treat rather than prevent chronic diseases - Medical Xpress

Although common, male baldness can have negative psychological effects and some studies have even linked it to a handful of serious illnesses. New research identifies the genetic variants involved in the condition, which could eventually enable researchers to predict a person's chances of hair loss.

Male baldness - also referred to as androgenetic alopecia or male pattern baldness (MPB) - affects a significant number of people in the United States, as the condition accounts for over 95 percent of all hair loss in men.

According to the American Hair Loss Association, two thirds of U.S. adults will be affected by MPB to a certain degree by the age of 35, and around 85 percent of men will have experienced significant hair loss by the age of 50.

A lot of these men are seriously affected by the condition, which can have a negative effect on a person's self-image, as well as on their interpersonal relationships.

Additionally, some genetic studies have even associated MPB with negative clinical outcomes such as prostate cancer and cardiovascular disease.

A new study - led by Saskia Hagenaars and David Hill of the University of Edinburgh in the United Kingdom - explores the genetic basis for the condition. The findings were published in the journal PLOS Genetics.

Scientists analyzed the genomic and health data of more than 52,000 men enrolled in the UK Biobank - an international health resource offering health information on more than 500,000 individuals.

The team located more than 250 independent genetic regions linked to severe hair loss.

The researchers split the 52,000 participants into two groups: a so-called discovery sample of 40,000 people and a target sample of 12,000 individuals. Based on the genetic variants that separated those with no hair loss from those with severe hair loss, the team designed an algorithm aimed to predict who would develop MPB.

The algorithmic baldness predictor is based on a genetic score, and although accurate predictions are still a long way off, the results of this study might soon enable researchers to identify subgroups of the population that are particularly prone to hair loss.

In the present study, researchers found that 14 percent of the participants with a submedian genetic score had severe MPB, and 39 percent had no hair loss. By contrast, 58 percent of those scoring in the top 10 percent on the polygenic score had moderate to severe MPB.

Co-lead author Saskia Hagenaars - a Ph.D. student at the University of Edinburgh's Centre for Cognitive Aging and Cognitive Epidemiology - comments on the findings:

"We identified hundreds of new genetic signals," Hagenaars says. "It was interesting to find that many of the genetics signals for male pattern baldness came from the X chromosome, which men inherit from their mothers."

The study's other lead author, Dr. David Hill, notes that the study did not collect data on the age of baldness onset, but only on hair loss pattern. However, he adds that, "we would expect to see an even stronger genetic signal if we were able to identify those with early-onset hair loss."

To the authors' knowledge, this is the largest genetic study of MPB to date.

The study's principal investigator, Dr. Riccardo Marioni, from the University of Edinburgh's Centre for Genomic and Experimental Medicine, explains the significance of the findings:

"We are still a long way from making an accurate prediction for an individual's hair loss pattern. However, these results take us one step closer. The findings pave the way for an improved understanding of the genetic causes of hair loss."

Learn how a drug promises robust new hair growth.

See the article here:
Genetic basis for male baldness identified in large-scale study - Medical News Today

Boehringer Ingelheim recentlyannounced a collaboration with Weill Cornell Medicine to identify new treatment approaches forchronic obstructive pulmonary disease (COPD)in order to develop novel treatments that could possibly halt or even reverse the progression of the disease process. The new, three-year collaboration combines Weill Cornell Medicines Department of Genetic Medicines unique understanding of chronic airway diseases and experience in the investigation of novel therapeutic concepts for airway repair with Boehringer Ingelheims expertise in the discovery and development of new therapies for respiratory diseases. This collaboration is the second collaboration between Boehringer Ingelheim and Weill Cornell Medicine, following prior work in inflammatory bowel disease (IBD).

Chronic lower respiratory diseases, which include COPD, are the third leading cause of death in the United States,and approximately 15million Americans have been told by a healthcare provider that they have COPD.It cannot be cured and current treatment approaches focus on bronchodilation, reducing symptoms and preventing exacerbations to decelerate the downward spiral of the disease.The goal is to help patients keep as active as possible and overall, improve their quality of life.

Our continuous search for molecular drivers of chronic obstructive airway diseases has revealed novel repair mechanisms that warrant further investigation of their potential as therapeutic approaches, said Dr. Ronald G. Crystal, Chairman of Genetic Medicine at Weill Cornell Medicine and lead investigator in the new collaboration. We will look to further expand our knowledge about progressive airway destruction in close collaboration with Boehringer Ingelheim and focus on promising therapeutic concepts with the potential to slow down or halt progressive airway damage in patients with COPD.

We are delighted to work with Dr. Crystal at Weill Cornell Medicine, who is one of the leading scientists in severe progressive airway diseases worldwide, said Dr. Clive R. Wood, Senior Corporate Vice President, Discovery Research at Boehringer Ingelheim. The scientists at Weill Cornell Medicine and Boehringer Ingelheim will work hand in hand to translate new discoveries into drug discovery and development programs at Boehringer Ingelheim. The new collaboration is an excellent example of our unique partnering approach and our focus on early innovation, underscoring our ambition to develop the next generation of medical treatments for patients with COPD.

Boehringer Ingelheim is combining a focus on cutting-edge science with a long-term view enabling the company to create a stable environment for the development of the next generation of medical breakthroughs. This new project adds another building block in this long-term strategy to improve the lives of patients with high unmet medical needs.

Weill Cornell's Office of BioPharma Alliances and Research Collaborations negotiated the three-year collaboration.The offices mission is to proactively generate, structure and market translational research alliances with industry in order to advance promising research projects that have commercial potential. For more information, contact Larry Schlossman atlas2041@med.cornell.eduor at 212-746-6909.

About Boehringer Ingelheim in Respiratory

Boehringer Ingelheim has over 90 years of heritage in respiratory disease. Since 1921 the company has emerged as a leader in this disease area and has launched several treatments in a range of respiratory conditions including asthma, chronic obstructive pulmonary disease (COPD), idiopathic pulmonary fibrosis (IPF) and lung cancer. Boehringer Ingelheims focus is on improving the quality of life of patients suffering from debilitating respiratory diseases and enabling them to maintain a more independent life.

About Boehringer Ingelheim Pharmaceuticals, Inc. Boehringer Ingelheim Pharmaceuticals, Inc., based in Ridgefield, CT, is the largest U.S. subsidiary of Boehringer Ingelheim Corporation.

Boehringer Ingelheim is one of the worlds 20 leading pharmaceutical companies.Headquartered in Ingelheim, Germany, the company operates globally with 145affiliates and more than 47,000 employees.Since its founding in 1885, the family-owned company has been committed to researching, developing, manufacturing and marketing novel treatments for human and veterinary medicine.

Boehringer Ingelheim is committed to improving lives and providing valuable services and support to patients and their families. Our employees create and engage in programs that strengthen our communities. To learn more about how we make more health for more people, visit ourCorporate Social Responsibility Report.

In 2015, Boehringer Ingelheim achieved net sales of about $15.8B (14.8billioneuros). R&D expenditure corresponds to 20.3 percent of its net sales.

SOURCE: Boehringer Ingelheim Pharmaceuticals, Inc.

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Boehringer Ingelheim And Weill Cornell Medicine Announce New ... - Clinical Leader

Posted: Feb. 15, 2017 8:00 am Updated: Feb. 15, 2017 3:09 pm

NEW YORK (AP) The Associated Press is teaming up with the Howard Hughes Medical Institute's Department of Science Education to expand its coverage of science, medicine and health journalism.

The initial collaboration includes two pilot projects. With the first project, AP will create and distribute a series of stories, profiles, videos and graphics focusing on genetic medicine. The second project will look at a variety of science topics in the news that will help readers stay current on the latest science research and make informed decisions on topics ranging from the environment, to public health.

"This collaboration brings wider attention and new storytelling tools to evidence-based, factual science," AP Executive Editor Sally Buzbee said.

HHMI, based in Chevy Chase, Maryland, supports the advancement of biomedical research and science education. The organization's origin dates back to the late 1940s when a small group of physicians and scientists advised Hughes. The medical institute was created in 1953.

The primary purpose of the organization is to promote human knowledge in the field of the basic sciences and its effective application for the benefit of mankind, according to its charter. In fiscal 2016, it provided $663 million in U.S. biomedical research and $86 million in grants and other support for science education.

HHMI's Department of Science Education, the largest private, nonprofit supporter of science education in the country, will provide funding for the AP projects. The funding will allow AP to increase the amount of science-related stories it provides to news organizations and add more journalists to support its current science reporting team. HHMI will also offer expert background information and educational material.

While the AP will receive funding and utilize HHMI's expertise when crafting its content, it maintains full editorial control of published material.

"We're proud to stand shoulder to shoulder with the world's most respected news organization to ensure that the best evidence around important scientific topics is presented clearly and distributed widely," said Sean B. Carroll, vice president of HHMI's Department of Science Education.

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AP, HHMI collaborate on expanded science, health coverage - New Jersey Herald