Category Archives: Gene Medicine

A gene is the basic physical and functional unit of heredity. Genes, which are made up of DNA, act as instructions to make molecules called proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project has estimated that humans have between 20,000 and 25,000 genes.

Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people. Alleles are forms of the same gene with small differences in their sequence of DNA bases. These small differences contribute to each persons unique physical features.

Genes are made up of DNA. Each chromosome contains many genes.

Genetics Home Reference provides consumer-friendly gene summaries that include an explanation of each genes normal function and how mutations in the gene cause particular genetic conditions.

The Centre for Genetics Education offers a fact sheet that introduces genes and chromosomes.

Next: What is a chromosome?

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What is a gene? - Genetics Home Reference

Dec 18, 2013 5:00pm

By Steven C. Moyo, M.D.

A gene mutation can increase your risk of heart attack and death as much as smoking does, new research suggests.

Duke University researchers reported today finding a link between a gene mutation known to increase the bodys response to stress and heart health. They found in a study of more than 6,000 patients with heart disease, carriers of this genetic mutation had a 38 percent increased risk of heart attack or death.

Genetic mutations are not just the stuff of movies and comic books. They are changes in our DNA code that affect the color of our eyes, our risks for cancer and, as this study shows, even our response to stress.

When we are stressed, it sets off a chain reaction of chemical signals in our bodies. The first of these is the release of a chemical called serotonin in the brain something that happens as soon as we get yelled at by our boss, for example, or get cut off in traffic. This release of serotonin lights the fuse for the explosive cascade of chemicals that follows, eventually leading to increased levels of cortisol in our system.

What this gene mutation does is produce a slightly different serotonin receptor in the brain one that causes an even greater than normal release of cortisol in response to stress.

This is bad news for our hearts. Specifically, increased cortisol has been shown to be associated with higher levels of calcium deposits in the hearts blood vessels, and blockage of these vessels is linked to increased risk of heart attack and death.

Men with this gene mutation have been shown to have a two- to three-times larger cortisol response to stress, said study investigator, Dr. Redford Williams, professor of medicine at Duke University. This higher-than-normal cortisol response from this gene, he said, boosts the risk of heart attack or death. Williams added that more than one in eight men and up to 2 percent of women in the general population are thought to carry this gene mutation, and that the increased risk associated with this gene is comparable to the increased risk associated with a smoking habit.

Williams said he hopes the findings will shed further light on the role of genes in stress-related heart ills a hope shared by heart disease experts not involved with the study.

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'Stress Gene' Ups Heart Attack, Death Risk

PUBLIC RELEASE DATE:

20-Dec-2013

Contact: Jessica Studeny jessica.studeny@case.edu 216-368-4692 Case Western Reserve University

Many rare disorders are caused by gene mutation, like sickle cell anemia. Yet until now the underlying genetic cause of more common conditions for example, rheumatoid arthritis has evaded scientists for years.

New research from Case Western Reserve University School of Medicine to appear in the journal Genome Research finds that six common diseases arise from DNA changes located outside genes. The study from the laboratory of Peter Scacheri, PhD, shows that multiple DNA changes, or variants, work in concert to affect genes, leading to autoimmune diseases including rheumatoid arthritis, Crohn's disease, celiac disease, multiple sclerosis, lupus and colitis. Further, for each disease, multiple different genes are manipulated by several small differences in DNA.

"We've known that rare diseases are due to one change within one gene with major effects. The key take away is that common diseases are due to many changes with small effects on a handful of genes," said Scacheri, associate professor of genetics and genome sciences.

The research is in advanced online publication and can be found at http://tinyurl.com/okml3ag.

The human genome includes 3 billion letters of DNA. Only 1 to 2 percent of the letters are used as the blueprint for proteins, the body's building blocks. Scacheri's team is part of group of scientists investigating where and why DNA goes awry in the remaining 98 percent the regions between genes. These regions contain thousands of genetic switches that control the levels of genes. This new finding shows that in common diseases, the fine-tuning of those switches is not quite right, leading to incorrect expression of some key genes previously unidentified.

"This is a paradigm shift for the field with respect to pinpointing the genetic causes of common disease susceptibility," Scacheri said.

"The Scacheri lab's study provides a new model for understanding how genetic variants explain variation in common, complex diseases such as rheumatoid arthritis and colitis. That is, the effect of an individual variant may be very small, but when coupled with other nearby variants, the manifestations are much greater, said Anthony Wynshaw-Boris, MD, PhD, chair of the Department of Genetics and Genome Sciences at Case Western Reserve University School of Medicine and University Hospitals Case Medical Center and the James H. Jewell MD '34 Professor of Genetics at the School of Medicine. "This model may also help to explain why genetic studies of these and other common diseases have so far fallen short of providing a satisfactory explanation of the genetic pathways important for the development of these disorders."

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Common disorders: It's not the genes themselves, but how they are controlled

By Charles E. Buban Philippine Daily Inquirer

A Genetic test is a medical procedure that looks at a persons genetic material and may be used to help a person know if he or she has genetic diseases or is at increased risk for some medical problems.

While this concept of gene testing is often met with fear and apprehension, a number of experts believe it should be welcomed with the kind of fervor and enthusiasm from anybody who wants to understand his/her healths predisposition.

Why wait for a health issue to strike when you can prevent it so you can enjoy life better? Your gene test should be able to guide you on how to live your life so those health issues that you are likely to have will not manifest and [so you can] preempt them with proper health maintenance courtesy of a specifically tailored health program that suits your body, said Dr. Ben Valdecaas, medical director of LifeScience Center for Wellness and Preventive Medicine.

A pioneer in preventive care and customized health management in the country, LifeScience Center for Wellness and Preventive Medicine believes that gene testing is one of the steps that one can take to become fully equipped with information about ones self.

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Tags: genetic test , health and wellness , health management , preventive care

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Why not gift yourself with gene test this Christmas?

Heart disease and stroke killed more than 787,000 people in 2010 -- about one in three Americans. A new study suggests a stress gene may be to blame for some of these deaths.

While obesity, high blood pressure, smoking, physical inactivity and eating a high-sodium diet devoid of fruits and vegetables all can raise risk for cardiovascular problems, the study authors say theyve found a biological explanation for why some people are predisposed to develop heart disease or die early from a stroke or heart attack.

"The exciting part to me this is that this genetic trait occurs in a significant proportion of people with heart disease," Dr. Beverly Brummett, an associate professor of psychiatry and behavioral sciences at Duke University School of Medicine in Durham, N.C., said in a statement.

The study builds on work scientists previously did to identify a genetic variant called a single nucleotide polymorphism, or SNP, in a DNA chain that makes a receptor for the neurotransmitter serotonin. Serotonin is a chemical messenger in the brain that is tied to emotion regulation. Essentially, an SNP is when one letter in a DNA sequence is swapped with another letter, which leads to a change in function. I this case, the function of the gene is changed to cause a hyperactive reaction to stress.

The researchers point out that a study last year found men with these gene variants had twice as much cortisol, a hormone related to stress, in their blood while under stress compared to men without the variant.

"It has been shown that high cortisol levels are predictive of increased heart disease risk. So we wanted to examine this more closely," said Brummett.

They conducted a genetic analysis of more than 6,100 people who underwent cardiac catheterization procedures, two-thirds of whom were male. In that procedure, a long, flexible tube is threaded through a blood vessel in the arm so doctors can perform tests or treatments that directly target the bloodstream.

They found the overactive stress gene in 13 percent of the patients. After tracking them for six years, the researchers discovered the genetic trait raised risk for heart attack and early death by 40 percent. This was the case even after ruling out other factors like age, obesity, smoking history and severity of their heart disease.

The study didnt look specifically at what is going on in the body to cause this increased risk, but the researchers have a theory that rising cortisol levels cause elevations in an ezyme called MMP9. This enzyme breaks down plaques in blood vessels, making them more likely to form cloths that could cause a blockage that leads to a heart attak.

"If we can replicate this and build on it, we may be able to find ways to reduce the cortisol reaction to stress -- either through behavior modification or drug therapies -- and reduce deaths from heart attack," said Brummet.

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"Stress gene" may raise heart attack risk in healthy people

A stress gene has been linked to having a higher risk of dying from a heart attack or heart disease.

Heart patients with the genetic change had a 38 per cent increased risk of heart attack or death, say US researchers.

Personalised medicine may lead to better targeting of psychological or drug treatment to those most at risk, they report in PLOS ONE.

The study adds to evidence stress may directly increase heart disease risk, says the British Heart Foundation.

A team at Duke University School of Medicine studied a single DNA letter change in the human genome, which has been linked to being more vulnerable to the effects of stress.

They found heart patients with the genetic change had a 38 per cent increased risk of heart attack or death from heart disease after seven years of follow up compared with those without, even after taking into account factors like age, obesity and smoking.

This suggests that stress management techniques and drug therapies could reduce deaths and disability from heart attacks, they say.

director of the Behavioural Medicine Research Center at Duke University School of Medicine, Dr Redford Williams, said the work is the first step towards finding genetic variants that identify people at higher risk of cardiovascular disease.

This is one step towards the day when we will be able to identify people on the basis of this genotype who are at higher risk of developing heart disease in the first place, he told BBC News.

Thats a step in the direction of personalised medicine for cardiovascular disease.

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Stress gene linked to heart attack – Study

Nanomedicine: Infectious Diseases, Immunotherapy, Diagnostics, Antifibrotics, Toxicology And Gene Me
ll4.me Nanomedicine: Infectious Diseases, Immunotherapy, Diagnostics, Antifibrotics, Toxicology And Gene Medicine This volume in the Methods in Enzymology series comprehensively covers Infectious Diseases, Immunotheraphy, Gene Medicine, Diagnostics and Toxicology of Nanomedicine.With an international board of authors, this volume is split into sections that cover subjects such as Nanomedicines in Immunotherapy, Nanomedicine toxicity, and Diagnostic Nanomedicine.Comprehensively covers Infectious Diseases, Immunotheraphy, Gene Medicine, Diagnostics and Toxicology of Nanomedicine.International board of authorsSplit into sections that cover subjects such as Nanomedicines in Immunotherapy, Nanomedicine toxicity, and Diagnostic Nanomedicine. Publisher: Academic Press Illustration: N Language: ENG Title: Nanomedicine: Infectious Diseases, Immunotherapy, Diagnostics, Antifibrotics, Toxicology and Gene Medicine Pages: 00470 (Encrypted EPUB) / 00470 (Encrypted PDF) On Sale: 2012-05-25 SKU-13/ISBN: 9780123918581 Category: Medical : General Category: Science : Life Sciences - Molecular Biology Category: Science : Life Sciences - Biochemistry This volume in the Methods in Enzymology series comprehensively covers Infectious Diseases, Immunotheraphy, Gene Medicine, Diagnostics and Toxicology of Nanomedicine.With an internatio medical, general, science, life sciences, molecular biologyFrom:aidasims9854Views:0 0ratingsTime:00:14More inPeople Blogs

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Nanomedicine: Infectious Diseases, Immunotherapy, Diagnostics, Antifibrotics, Toxicology And Gene Me - Video

Dutch biotech company uniQure said Monday it would start selling the first human gene therapy to be approved in the West by mid-2013 and predicted an explosion of similar therapies to come.

The European Commission approved Glybera on October 25, making the drug for treating the extremely rare disorder lipoprotein lipase deficiency (LPLD) the first to be approved for sale in Europe or North America.

"We believe that after Glybera's approval gene therapy is at the beginning of a period of rapid growth similar to the development of the antibody business in the last decade," uniQure chief executive Joern Aldag said in a statement.

Gene therapy works by modifying a patient's DNA to combat a specific disease, and has been experimented with to treat everything from blindness to depression and brain wasting diseases.

But the relatively unknown treatments have struggled to obtain regulatory approval in the West, although authorities in China approved a gene therapy for treating head and neck cancer as long ago as 2003.

Gene medicine burst on the medical scene in the late 1990s and is one of the most alluring areas of biotechnology, offering the theoretical promise of blocking or reversing inherited disease.

But this new frontier has also been hit by occasional setbacks, notably an unexpected or uncontrollable response from the immune system.

So far, successes have been few, limited to single-gene disorders -- as opposed to complex multi-gene disorders that account for the commonest diseases.

Setbacks included the tragic death of an 18-year-old US volunteer, Jesse Gelsinger, in 1999, and the development of cancer among two French children treated for "bubble baby" syndrome, a chronic lack of immune defences.

Glybera treats LPLD, an inherited disease that affects around one or two people in a million, by preventing them from metabolising certain fat particles in the blood.

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First gene therapy to go on sale in Europe in 2013: company

Sickle Cell Anemia: Stem Cell Gene Therapy - Donald Kohn
(Part 1 of 2) CIRM has funded a $9 million disease team to develop a more effective and safer bone marrow transplant to treat sickle cell disease. The team is led by Dr. Donald Kohn, director of the Human Gene Medicine Program at UCLA, a scientist with the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research at UCLA and a professor of microbiology and pediatrics. Kohn updated the CIRM Governing Board on May 05, 2011 about his team #39;s progress. For more information see our sickle cell disease fact sheet: http://www.cirm.ca.gov To view the other video in this playlist, go to: http://www.youtube.comFrom:CIRMTVViews:1142 3ratingsTime:45:48More inScience Technology

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Sickle Cell Anemia: Stem Cell Gene Therapy - Donald Kohn - Video

Finding A Cure For Cancer with Dr. Aaron Rapoport
In this interview with his patient, world-class sailor and broadcaster Gary Jobson, Dr. Aaron Rapoport, professor of Medicine at the University of Maryland School of Medicine and director of Gene Medicine/Lymphoma at the University of Maryland Greenebaum Cancer Center, discusses his passion for treating patients with cancer and conducting research to find a cure. Related Links: Dr. Aaron Rapoport http://www.umm.edu University of Maryland Greenebaum Cancer Center http://www.umgcc.org Why Choose UMGCC? http://www.umgcc.org UMGCC Patient Care Team http://www.umgcc.org UMGCC Treatment Programs http://www.umgcc.org Distributed by Tubemogul.From:UMMCVideosViews:448 1ratingsTime:02:59More inScience Technology

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Finding A Cure For Cancer with Dr. Aaron Rapoport - Video