Category Archives: Gene Medicine

Gene therapy is a rapidly growing field of medicine in which genes are introduced into the body to treat diseases. Genes control heredity and provide the basic biological code for determining a cell's specific functions. Gene therapy seeks to provide genes that correct or supplant the disease-controlling functions of cells that are not, in essence, doing their job. Somatic gene therapy introduces therapeutic genes at the tissue or cellular level to treat a specific individual. Germ-line gene therapy inserts genes into reproductive cells or possibly into embryos to correct genetic defects that could be passed on to future generations. Initially conceived as an approach for treating inherited diseases, like cystic fibrosis and Huntington's disease, the scope of potential gene therapies has grown to include treatments for cancers, arthritis, and infectious diseases. Although gene therapy testing in humans has advanced rapidly, many questions surround its use. For example, some scientists are concerned that the therapeutic genes themselves may cause disease. Others fear that germ-line gene therapy may be used to control human development in ways not connected with disease, like intelligence or appearance.

Gene therapy has grown out of the science of genetics or how heredity works. Scientists know that life begins in a cell, the basic building block of all multicellular organisms. Humans, for instance, are made up of trillions of cells, each performing a specific function. Within the cell's nucleus (the center part of a cell that regulates its chemical functions) are pairs of chromosomes. These threadlike structures are made up of a single molecule of DNA (deoxyribonucleic acid), which carries the blueprint of life in the form of codes, or genes, that determine inherited characteristics.

A DNA molecule looks like two ladders with one of the sides taken off both and then twisted around each other. The rungs of these ladders meet (resulting in a spiral staircase-like structure) and are called base pairs. Base pairs are made up of nitrogen molecules and arranged in specific sequences. Millions of these base pairs, or sequences, can make up a single gene, specifically defined as a segment of the chromosome and DNA that contains certain hereditary information. The gene, or combination of genes formed by these base pairs ultimately direct an organism's growth and characteristics through the production of certain chemicals, primarily proteins, which carry out most of the body's chemical functions and biological reactions.

Scientists have long known that alterations in genes present within cells can cause inherited diseases like cystic fibrosis, sickle-cell anemia, and hemophilia. Similarly, errors in the total number of chromosomes can cause conditions such as Down syndrome or Turner's syndrome. As the study of genetics advanced, however, scientists learned that an altered genetic sequence also can make people more susceptible to diseases, like atherosclerosis, cancer, and even schizophrenia. These diseases have a genetic component, but also are influenced by environmental factors (like diet and lifestyle). The objective of gene therapy is to treat diseases by introducing functional genes into the body to alter the cells involved in the disease process by either replacing missing genes or providing copies of functioning genes to replace nonfunctioning ones. The inserted genes can be naturally-occurring genes that produce the desired effect or may be genetically engineered (or altered) genes.

Scientists have known how to manipulate a gene's structure in the laboratory since the early 1970s through a process called gene splicing. The process involves removing a fragment of DNA containing the specific genetic sequence desired, then inserting it into the DNA of another gene. The resultant product is called recombinant DNA and the process is genetic engineering.

There are basically two types of gene therapy. Germ-line gene therapy introduces genes into reproductive cells (sperm and eggs) or someday possibly into embryos in hopes of correcting genetic abnormalities that could be passed on to future generations. Most of the current work in applying gene therapy, however, has been in the realm of somatic gene therapy. In this type of gene therapy, therapeutic genes are inserted into tissue or cells to produce a naturally occurring protein or substance that is lacking or not functioning correctly in an individual patient.

In both types of therapy, scientists need something to transport either the entire gene or a recombinant DNA to the cell's nucleus, where the chromosomes and DNA reside. In essence, vectors are molecular delivery trucks. One of the first and most popular vectors developed were viruses because they invade cells as part of the natural infection process. Viruses have the potential to be excellent vectors because they have a specific relationship with the host in that they colonize certain cell types and tissues in specific organs. As a result, vectors are chosen according to their attraction to certain cells and areas of the body.

One of the first vectors used was retroviruses. Because these viruses are easily cloned (artificially reproduced) in the laboratory, scientists have studied them extensively and learned a great deal about their biological action. They also have learned how to remove the genetic information that governs viral replication, thus reducing the chances of infection.

Retroviruses work best in actively dividing cells, but cells in the body are relatively stable and do not divide often. As a result, these cells are used primarily for ex vivo (outside the body) manipulation. First, the cells are removed from the patient's body, and the virus, or vector, carrying the gene is inserted into them. Next, the cells are placed into a nutrient culture where they grow and replicate. Once enough cells are gathered, they are returned to the body, usually by injection into the blood stream. Theoretically, as long as these cells survive, they will provide the desired therapy.

Another class of viruses, called the adenoviruses, also may prove to be good gene vectors. These viruses can effectively infect nondividing cells in the body, where the desired gene product then is expressed naturally. In addition to being a more efficient approach to gene transportation, these viruses, which cause respiratory infections, are more easily purified and made stable than retroviruses, resulting in less chance of an unwanted viral infection. However, these viruses live for several days in the body, and some concern surrounds the possibility of infecting others with the viruses through sneezing or coughing. Other viral vectors include influenza viruses, Sindbis virus, and a herpes virus that infects nerve cells.

Scientists also have delved into nonviral vectors. These vectors rely on the natural biological process in which cells uptake (or gather) macromolecules. One approach is to use liposomes, globules of fat produced by the body and taken up by cells. Scientists also are investigating the introduction of raw recombinant DNA by injecting it into the bloodstream or placing it on microscopic beads of gold shot into the skin with a "gene-gun." Another possible vector under development is based on dendrimer molecules. A class of polymers (naturally occurring or artificial substances that have a high molecular weight and formed by smaller molecules of the same or similar substances), is "constructed" in the laboratory by combining these smaller molecules. They have been used in manufacturing Styrofoam, polyethylene cartons, and Plexiglass. In the laboratory, dendrimers have shown the ability to transport genetic material into human cells. They also can be designed to form an affinity for particular cell membranes by attaching to certain sugars and protein groups.

In the early 1970s, scientists proposed "gene surgery" for treating inherited diseases caused by faulty genes. The idea was to take out the disease-causing gene and surgically implant a gene that functioned properly. Although sound in theory, scientists, then and now, lack the biological knowledge or technical expertise needed to perform such a precise surgery in the human body.

However, in 1983, a group of scientists from Baylor College of Medicine in Houston, Texas, proposed that gene therapy could one day be a viable approach for treating Lesch-Nyhan disease, a rare neurological disorder. The scientists conducted experiments in which an enzyme-producing gene (a specific type of protein) for correcting the disease was injected into a group of cells for replication. The scientists theorized the cells could then be injected into people with Lesch-Nyhan disease, thus correcting the genetic defect that caused the disease.

As the science of genetics advanced throughout the 1980s, gene therapy gained an established foothold in the minds of medical scientists as a promising approach to treatments for specific diseases. One of the major reasons for the growth of gene therapy was scientists' increasing ability to identify the specific genetic malfunctions that caused inherited diseases. Interest grew as further studies of DNA and chromosomes (where genes reside) showed that specific genetic abnormalities in one or more genes occurred in successive generations of certain family members who suffered from diseases like intestinal cancer, bipolar disorder, Alzheimer's disease, heart disease, diabetes, and many more. Although the genes may not be the only cause of the disease in all cases, they may make certain individuals more susceptible to developing the disease because of environmental influences, like smoking, pollution, and stress. In fact, some scientists theorize that all diseases may have a genetic component.

On September 14, 1990, a four-year old girl suffering from a genetic disorder that prevented her body from producing a crucial enzyme became the first person to undergo gene therapy in the United States. Because her body could not produce adenosine deaminase (ADA), she had a weakened immune system, making her extremely susceptible to severe, life-threatening infections. W. French Anderson and colleagues at the National Institutes of Health's Clinical Center in Bethesda, Maryland, took white blood cells (which are crucial to proper immune system functioning) from the girl, inserted ADA producing genes into them, and then transfused the cells back into the patient. Although the young girl continued to show an increased ability to produce ADA, debate arose as to whether the improvement resulted from the gene therapy or from an additional drug treatment she received.

Nevertheless, a new era of gene therapy began as more and more scientists sought to conduct clinical trial (testing in humans) research in this area. In that same year, gene therapy was tested on patients suffering from melanoma (skin cancer). The goal was to help them produce antibodies (disease fighting substances in the immune system) to battle the cancer.

These experiments have spawned an ever growing number of attempts at gene therapies designed to perform a variety of functions in the body. For example, a gene therapy for cystic fibrosis aims to supply a gene that alters cells, enabling them to produce a specific protein to battle the disease. Another approach was used for brain cancer patients, in which the inserted gene was designed to make the cancer cells more likely to respond to drug treatment. Another gene therapy approach for patients suffering from artery blockage, which can lead to strokes, induces the growth of new blood vessels near clogged arteries, thus ensuring normal blood circulation.

Currently, there are a host of new gene therapy agents in clinical trials. In the United States, both nucleic acid based (in vivo ) treatments and cell-based (ex vivo ) treatments are being investigated. Nucleic acid based gene therapy uses vectors (like viruses) to deliver modified genes to target cells. Cell-based gene therapy techniques remove cells from the patient in order to genetically alter them then reintroduce them to the patient's body. Presently, gene therapies for the following diseases are being developed: cystic fibrosis (using adenoviral vector), HIV infection (cell-based), malignant melanoma (cell-based), Duchenne muscular dystrophy (cell-based), hemophilia B (cell-based), kidney cancer (cell-based), Gaucher's Disease (retroviral vector), breast cancer (retroviral vector), and lung cancer (retroviral vector). When a cell or individual is treated using gene therapy and successful incorporation of engineered genes has occurred, the cell or individual is said to be transgenic.

The medical establishment's contribution to transgenic research has been supported by increased government funding. In 1991, the U.S. government provided $58 million for gene therapy research, with increases in funding of $15-40 million dollars a year over the following four years. With fierce competition over the promise of societal benefit in addition to huge profits, large pharmaceutical corporations have moved to the forefront of transgenic research. In an effort to be first in developing new therapies, and armed with billions of dollars of research funds, such corporations are making impressive strides toward making gene therapy a viable reality in the treatment of once elusive diseases.

The potential scope of gene therapy is enormous. More than 4,200 diseases have been identified as resulting directly from abnormal genes, and countless others that may be partially influenced by a person's genetic makeup. Initial research has concentrated on developing gene therapies for diseases whose genetic origins have been established and for other diseases that can be cured or improved by substances genes produce.

The following are examples of potential gene therapies. People suffering from cystic fibrosis lack a gene needed to produce a salt-regulating protein. This protein regulates the flow of chloride into epithelial cells, (the cells that line the inner and outer skin layers) that cover the air passages of the nose and lungs. Without this regulation, patients with cystic fibrosis build up a thick mucus that makes them prone to lung infections. A gene therapy technique to correct this abnormality might employ an adenovirus to transfer a normal copy of what scientists call the cystic fibrosis transmembrane conductance regulator, or CTRF, gene. The gene is introduced into the patient by spraying it into the nose or lungs. Researchers announced in 2004 that they had, for the first time, treated a dominant neurogenerative disease called Spinocerebella ataxia type 1, with gene therapy. This could lead to treating similar diseases such as Huntingtons disease. They also announced a single intravenous injection could deliver therapy to all muscles, perhaps providing hope to people with muscular dystrophy.

Familial hypercholesterolemia (FH) also is an inherited disease, resulting in the inability to process cholesterol properly, which leads to high levels of artery-clogging fat in the blood stream. Patients with FH often suffer heart attacks and strokes because of blocked arteries. A gene therapy approach used to battle FH is much more intricate than most gene therapies because it involves partial surgical removal of patients' livers (ex vivo transgene therapy). Corrected copies of a gene that serve to reduce cholesterol build-up are inserted into the liver sections, which then are transplanted back into the patients.

Gene therapy also has been tested on patients with AIDS. AIDS is caused by the human immunodeficiency virus (HIV), which weakens the body's immune system to the point that sufferers are unable to fight off diseases like pneumonias and cancer. In one approach, genes that produce specific HIV proteins have been altered to stimulate immune system functioning without causing the negative effects that a complete HIV molecule has on the immune system. These genes are then injected in the patient's blood stream. Another approach to treating AIDS is to insert, via white blood cells, genes that have been genetically engineered to produce a receptor that would attract HIV and reduce its chances of replicating. In 2004, researchers reported that had developed a new vaccine concept for HIV, but the details were still in development.

Several cancers also have the potential to be treated with gene therapy. A therapy tested for melanoma, or skin cancer, involves introducing a gene with an anticancer protein called tumor necrosis factor (TNF) into test tube samples of the patient's own cancer cells, which are then reintroduced into the patient. In brain cancer, the approach is to insert a specific gene that increases the cancer cells' susceptibility to a common drug used in fighting the disease. In 2003, researchers reported that they had harnessed the cell killing properties of adenoviruses to treat prostate cancer. A 2004 report said that researchers had developed a new DNA vaccine that targeted the proteins expressed in cervical cancer cells.

Gaucher disease is an inherited disease caused by a mutant gene that inhibits the production of an enzyme called glucocerebrosidase. Patients with Gaucher disease have enlarged livers and spleens and eventually their bones deteriorate. Clinical gene therapy trials focus on inserting the gene for producing this enzyme.

Gene therapy also is being considered as an approach to solving a problem associated with a surgical procedure known as balloon angioplasty. In this procedure, a stent (in this case, a type of tubular scaffolding) is used to open the clogged artery. However, in response to the trauma of the stent insertion, the body initiates a natural healing process that produces too many cells in the artery and results in restenosis, or reclosing of the artery. The gene therapy approach to preventing this unwanted side effect is to cover the outside of the stents with a soluble gel. This gel contains vectors for genes that reduce this overactive healing response.

Regularly throughout the past decade, and no doubt over future years, scientists have and will come up with new possible ways for gene therapy to help treat human disease. Recent advancements include the possibility of reversing hearing loss in humans with experimental growing of new sensory cells in adult guinea pigs, and avoiding amputation in patients with severe circulatory problems in their legs with angiogenic growth factors.

Although great strides have been made in gene therapy in a relatively short time, its potential usefulness has been limited by lack of scientific data concerning the multitude of functions that genes control in the human body. For instance, it is now known that the vast majority of genetic material does not store information for the creation of proteins, but rather is involved in the control and regulation of gene expression, and is, thus, much more difficult to interpret. Even so, each individual cell in the body carries thousands of genes coding for proteins, with some estimates as high as 150,000 genes. For gene therapy to advance to its full potential, scientists must discover the biological role of each of these individual genes and where the base pairs that make them up are located on DNA.

To address this issue, the National Institutes of Health initiated the Human Genome Project in 1990. Led by James D. Watson (one of the co-discoverers of the chemical makeup of DNA) the project's 15-year goal is to map the entire human genome (a combination of the words gene and chromosomes). A genome map would clearly identify the location of all genes as well as the more than three billion base pairs that make them up. With a precise knowledge of gene locations and functions, scientists may one day be able to conquer or control diseases that have plagued humanity for centuries.

Scientists participating in the Human Genome Project identified an average of one new gene a day, but many expected this rate of discovery to increase. By the year 2005, their goal was to determine the exact location of all the genes on human DNA and the exact sequence of the base pairs that make them up. Some of the genes identified through this project include a gene that predisposes people to obesity, one associated with programmed cell death (apoptosis), a gene that guides HIV viral reproduction, and the genes of inherited disorders like Huntington's disease, Lou Gehrig's disease, and some colon and breast cancers. In April 2003, the finished sequence was announced, with 99% of the human genome's gene-containing regions mapped to an accuracy of 99.9%.

Gene therapy seems elegantly simple in its concept: supply the human body with a gene that can correct a biological malfunction that causes a disease. However, there are many obstacles and some distinct questions concerning the viability of gene therapy. For example, viral vectors must be carefully controlled lest they infect the patient with a viral disease. Some vectors, like retroviruses, also can enter cells functioning properly and interfere with the natural biological processes, possibly leading to other diseases. Other viral vectors, like the adenoviruses, often are recognized and destroyed by the immune system so their therapeutic effects are short-lived. Maintaining gene expression so it performs its role properly after vector delivery is difficult. As a result, some therapies need to be repeated often to provide long-lasting benefits.

One of the most pressing issues, however, is gene regulation. Genes work in concert to regulate their functioning. In other words, several genes may play a part in turning other genes on and off. For example, certain genes work together to stimulate cell division and growth, but if these are not regulated, the inserted genes could cause tumor formation and cancer. Another difficulty is learning how to make the gene go into action only when needed. For the best and safest therapeutic effort, a specific gene should turn on, for example, when certain levels of a protein or enzyme are low and must be replaced. But the gene also should remain dormant when not needed to ensure it doesn't oversupply a substance and disturb the body's delicate chemical makeup.

One approach to gene regulation is to attach other genes that detect certain biological activities and then react as a type of automatic off-and-on switch that regulates the activity of the other genes according to biological cues. Although still in the rudimentary stages, researchers are making headway in inhibiting some gene functioning by using a synthetic DNA to block gene transcriptions (the copying of genetic information). This approach may have implications for gene therapy.

While gene therapy holds promise as a revolutionary approach to treating disease, ethical concerns over its use and ramifications have been expressed by scientists and lay people alike. For example, since much needs to be learned about how these genes actually work and their long-term effect, is it ethical to test these therapies on humans, where they could have a disastrous result? As with most clinical trials concerning new therapies, including many drugs, the patients participating in these studies usually have not responded to more established therapies and often are so ill the novel therapy is their only hope for long-term survival.

Another questionable outgrowth of gene therapy is that scientists could possibly manipulate genes to genetically control traits in human offspring that are not health related. For example, perhaps a gene could be inserted to ensure that a child would not be bald, a seemingly harmless goal. However, what if genetic manipulation was used to alter skin color, prevent homosexuality, or ensure good looks? If a gene is found that can enhance intelligence of children who are not yet born, will everyone in society, the rich and the poor, have access to the technology or will it be so expensive only the elite can afford it?

The Human Genome Project, which plays such an integral role for the future of gene therapy, also has social repercussions. If individual genetic codes can be determined, will such information be used against people? For example, will someone more susceptible to a disease have to pay higher insurance premiums or be denied health insurance altogether? Will employers discriminate between two potential employees, one with a "healthy" genome and the other with genetic abnormalities?

Some of these concerns can be traced back to the eugenics movement popular in the first half of the twentieth century. This genetic "philosophy" was a societal movement that encouraged people with "positive" traits to reproduce while those with less desirable traits were sanctioned from having children. Eugenics was used to pass strict immigration laws in the United States, barring less suitable people from entering the country lest they reduce the quality of the country's collective gene pool. Probably the most notorious example of eugenics in action was the rise of Nazism in Germany, which resulted in the Eugenic Sterilization Law of 1933. The law required sterilization for those suffering from certain disabilities and even for some who were simply deemed "ugly." To ensure that this novel science is not abused, many governments have established organizations specifically for overseeing the development of gene therapy. In the United States, the Food and Drug Administration (FDA) and the National Institutes of Health require scientists to take a precise series of steps and meet stringent requirements before proceeding with clinical trials. As of mid-2004, more than 300 companies were carrying out gene medicine developments and 500 clinical trials were underway. How to deliver the therapy is the key to unlocking many of the researchers discoveries.

In fact, gene therapy has been immersed in more controversy and surrounded by more scrutiny in both the health and ethical arena than most other technologies (except, perhaps, for cloning) that promise to substantially change society. Despite the health and ethical questions surrounding gene therapy, the field will continue to grow and is likely to change medicine faster than any previous medical advancement.

Cell The smallest living unit of the body that groups together to form tissues and help the body perform specific functions.

Chromosome A microscopic thread-like structure found within each cell of the body, consisting of a complex of proteins and DNA. Humans have 46 chromosomes arranged into 23 pairs. Changes in either the total number of chromosomes or their shape and size (structure) may lead to physical or mental abnormalities.

Clinical trial The testing of a drug or some other type of therapy in a specific population of patients.

Clone A cell or organism derived through asexual (without sex) reproduction containing the identical genetic information of the parent cell or organism.

Deoxyribonucleic acid (DNA) The genetic material in cells that holds the inherited instructions for growth, development, and cellular functioning.

Embryo The earliest stage of development of a human infant, usually used to refer to the first eight weeks of pregnancy. The term fetus is used from roughly the third month of pregnancy until delivery.

Enzyme A protein that causes a biochemical reaction or change without changing its own structure or function.

Eugenics A social movement in which the population of a society, country, or the world is to be improved by controlling the passing on of hereditary information through mating.

Gene A building block of inheritance, which contains the instructions for the production of a particular protein, and is made up of a molecular sequence found on a section of DNA. Each gene is found on a precise location on a chromosome.

Gene transcription The process by which genetic information is copied from DNA to RNA, resulting in a specific protein formation.

Genetic engineering The manipulation of genetic material to produce specific results in an organism.

Genetics The study of hereditary traits passed on through the genes.

Germ-line gene therapy The introduction of genes into reproductive cells or embryos to correct inherited genetic defects that can cause disease.

Liposome Fat molecule made up of layers of lipids.

Macromolecules A large molecule composed of thousands of atoms.

Nitrogen A gaseous element that makes up the base pairs in DNA.

Nucleus The central part of a cell that contains most of its genetic material, including chromosomes and DNA.

Protein Important building blocks of the body, composed of amino acids, involved in the formation of body structures and controlling the basic functions of the human body.

Somatic gene therapy The introduction of genes into tissue or cells to treat a genetic related disease in an individual.

Vectors Something used to transport genetic information to a cell.

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National Human Genome Research Institute. The National Institutes of Health. 9000 Rockville Pike, Bethesda, MD 20892. (301) 496-2433. http://www.nhgri.nih.gov.

Online Mendelian Inheritance in Man. Online genetic testing information sponsored by National Center for Biotechnology Information. http://www.ncbi.nlm.nih.gov/Omim/.

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June 27, 2017

Alzheimer's disease patients are increasing with the aging of the world's population, becoming a huge health care and social burden. To find the cause of various diseases, in recent years, scientists have focused within the human genome on copy number variations (CNVs), which are changes in the number of genes within a population.

Likewise, a group of genes responsible for a gene number change has also been reported for Alzheimer's disease, but to date, it has not been easy to identify a causative gene from multiple genes within the pathogenic CNV region.

Now, a new approach to finding Alzheimer's disease (AD) causative genes was estimated by paying attention to special duplicated genes called "ohnologs" included in the genomic region specific to AD patients. Human ohnologs, which are vulnerable to change in number, were generated by whole genome duplications 500 million years ago.

In a new study published in the advanced online edition of Molecular Biology and Evolution, Mizuka Sekine and Takashi Makino investigated the gene expression and knockout mouse phenotype for ohnologs, and succeeded in narrowing down the genetic culprits. The narrowed gene group had a function related to the nervous system and a high expression level in the brain which were similar to characteristics of known AD causative genes.

Their findings suggest that the identification of causative genes using ohnologs is a promising and effective approach in diseases caused by dosage change.

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No one wants to hear that they have a mutation in their DNA associated with the development of cancer. But it may be even more difficult to accept that, in many cases, clinicians can't say whether or by how much that mutation might increase a person's actual risk of developing the disease. This uncertainty causes anxiety and clouds treatment decisions.

Now, in the largest study of its kind, researchers at the Stanford University School of Medicine and Fox Chase Cancer Center in Philadelphia have analyzed the genetic test results, family histories and disease status of nearly 95,600 women who underwent genetic testing for 25 mutations associated with the development of breast and ovarian cancer. Some of the women had cancer; many did not. Seven percent of the women in the study carried at least one of the mutations, the researchers found.

The researchers hope the study is the first step to providing much-needed clarity to women and their physicians as they struggle to interpret the results of genetic testing. It may also help guideline-making organizations such as the American Cancer Society recommend when additional or more-frequent screening tests might be appropriate.

"The results of this study will help to personalize our risk estimates and recommendations for preventive care," said Allison Kurian, MD, associate professor of medicine and of health research and policy at Stanford. "A better understanding of cancer risks can help women and their clinicians make better-informed decision about options to manage cancer risk."

For example, Kurian said, some women with a high risk of developing breast cancer might consider preventive mastectomy, whereas those with lower riskfor example, a twofold elevation over the average riskmight instead pursue intensive regular screening, including breast magnetic resonance imaging.

Kurian is the lead author of the study, which will be published online June 27 in JCO Precision Oncology. Michael Hall, MD, associate professor of clinical genetics at the Fox Chase Cancer Center, is the senior author. The study was funded by Salt Lake City-based Myriad Genetics Inc., which performed the genetic testing.

What does a mutation mean?

Increasingly, women who are tested for a panel of cancer-associated mutations are given a mixed bag of results. Advances in DNA sequencing have made it quicker, easier and cheaper to identify mutations in an ever-growing panel of cancer-associated genes. With the exception of a few well-studied mutations such as BRCA1 and BRCA2, however, the exact effect of most of these remains murky because few large-scale studies have been completed.

The researchers assessed the mutation status of 95,561 women with and without the disease who chose to have their genome tested by Myriad Genetics for the presence of 25 cancer-associated mutations between September 2013 and September 2016. They matched the women according to their ages, ethnicity and family history of cancer to assign a relative risk of developing cancer to each of the mutations.

Kurian and her colleagues found that eight of the mutations were positively associated with the development of breast cancer, and 11 were positively associated with ovarian cancer. Increased cancer risk for women carrying the mutations ranged from two to 40 times that of a woman without the mutations.

'Significant advantage'

"This large sample size provided a reliable data set on real people," said Hall. "This is a significant advantage as we work to identify the strength of association between mutation and risk."

In many cases the researchers' findings dovetailed with what had already been surmised from smaller studies. But there were some surprises. One mutation assumed to increase a woman's risk of breast cancer was shown to instead increase the likelihood of ovarian cancer. Three other mutations thought to increase the risk of breast cancer seem instead to have little effect.

"One surprising finding was the association of an increased ovarian cancer risk with mutations in a gene called ATM," said Kurian. "Although this risk was relatively small numerically, it was statistically significant, and to our knowledge it had not previously been published. Additional studies will be important to determine the robustness and clinical relevance of this finding, and to expand the evidence base that we use to counsel our patients."

The work is an example of Stanford Medicine's focus on precision health, the goal of which is to anticipate and prevent disease in the healthy and precisely diagnose and treat disease in the ill.

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Genetic tests help identify relative risk of 25 cancer-associated mutations - Medical Xpress

Thirty-six percent of Hispanic families in the U.S. with a common form of retinitis pigmentosa got the disease because they carry a mutation of the arrestin-1 gene, according to a new study from researchers at The University of Texas Health Science Center at Houston (UTHealth) School of Public Health.

Retinitis pigmentosa is a group of rare, genetic eye disorders in which the retina of the eye slowly degenerates. The disease causes night blindness and progressive loss of peripheral vision, sometimes leading to complete blindness. According to Stephen P. Daiger, Ph.D., senior author of the study, an estimated 300,000 people in the U.S. suffer from the disease, which gets passed down through families.

In the study published recently in Investigative Ophthalmology & Visual Science, UTHealth researchers found that in a U.S. cohort of 300 families with retinitis pigmentosa, 3 percent exhibited a mutation of the arrestin-1 gene. However, more than 36 percent of Hispanic families from the cohort exhibited the arestin-1 mutation and they all came from areas in the Southwestern U.S., such as Texas, Arizona and Southern California.

When I started studying retinitis pigmentosa in 1985, we set out to find the one gene that causes the disease. Thirty-three years later, weve found that more than 70 genes are linked to retinitis pigmentosa, said Daiger, a professor in the Human Genetics Center and holder of the Thomas Stull Matney, Ph.D. Professorship in Environmental and Genetic Sciences at UTHealth School of Public Health.

Some of the genes that cause retinitis pigmentosa are recessive, which means two mutations are required, and some are dominant, which means you only need one mutation. Arrestin-1 piqued Daigers interest because that particular mutation is dominant while all previously found mutations in the gene are recessive. This unexpected finding shows that even a single mutation in the gene is sufficient to cause the disease.

Daiger and his team have identified the genetic cause of retinitis pigmentosa for 75 percent of families in their cohort. Possible treatments for some forms of retinitis pigmentosa are being tested but are still limited. However, the speed at which companies are developing gene therapies and small molecule therapies gives reason to hope, he said. Daiger and his collaborators have begun to connect some of the patients in the retinitis pigmentosa cohort to clinical trials that treat specific genes.

I want our cohort families to know that even if there is not an immediate cure for their specific gene mutation, at this rate it wont be long until a therapy becomes available, said Daiger, who also holds the Mary Farish Johnston Distinguished Chair in Ophthalmology at McGovern Medical School at UTHealth.

UTHealth coauthors include Lori S. Sullivan, Ph.D.; Sara J. Browne, Ph.D.; Elizabeth L. Cadena; Richard S. Ruiz, M.D., and Hope Northrup, M.D. Additional co-authors are from Nationwide Childrens Hospital; Kellogg Eye Center at the University of Michigan; Retina Foundation of the Southwest; Casey Eye Institute at Oregon Health and Science University; Vanderbilt University and the Department of Molecular and Human Genetics at Baylor College of Medicine.

Support for the study, titled A novel dominant mutation in SAG, the arrestin-1 gene, is a common cause of retinitis pigmentosa in Hispanic families in the Southwestern United States, was provided by the William Stamps Farish Fund and the Hermann Eye Fund.

Additional support was provided by the National Institutes of Health (EY007142, EY009076, EY011500, EY010572 and K08-EY026650), a Wynn-Gund TRAP Award, the Foundation Fighting Blindness, the Max and Minnie Voelker Foundation and a grant to the Casey Eye Institute from Research to Prevent Blindness.

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Gene Mutation Linked to Retinitis Pigmentosa in Southwestern US Hispanic Families - Texas Medical Center (press release)

27 Jun 2017

Scientists believe genetic variation accounts for much of the risk of sporadic amyotrophic lateral sclerosis (SALS). However, estimates on just how much heritability the known ALS genes confer range from 11 to 28 percent. In the June 21 Neurology, researchers led by Summer Gibson and Jonathan Downie at the University of Utah School of Medicine, Salt Lake City, describe how to better determine that number. Their method takes pathogenicity of rare variants into account. In a small cohort, they found that only 17 percent of SALS cases carried variations predicted to be harmful in the genes known to be associated with ALS to date. This percentage is lower than several previous estimates. However, Downie stressed that additional risk variants in other genes remain to bediscovered.

In an accompanying editorial, Peter Andersen at Ume University, Sweden, applauded the use of predictive algorithms to determine how likely a genetic variant is to be pathogenic. This approach is the real novelty of the present study, hewrote.

Studies of twins have pegged the overall heritability of SALS as high as 60 percent (see Al-Chalabi et al., 2010).However, three genome-wide association studies indicate the current set of ALS-linked genes explain just 21 percent of SALS, and other studies have come up with similar numbers (Jul 2014 news;Nov 2014 news;Renton et al., 2014).None of these studies attempted to weed out harmless variations that might inflate genetic risk estimates (Jul 2012 webinar).

To better determine the contribution of known ALS genes, the authors sequenced the whole exomes of 87 SALS patients of European ancestry who were being seen at the University of Utah. None of them had a family history of the disease. Downie and colleagues looked for repeat expansions in C9ORF72 and ATXN2, plus for rare coding variants among 31 other ALSgenes.

Altogether, they identified 28 variants in 25 patients. Five of the variants were C9ORF72 expansions, two were ATXN2 expansions, and two were pathogenic SOD1 alleles. The other 19 coding variants had not been previously linked toALS.

To determine if these 19 variations were harmful, the authors used a method called MetaSVM,which combines scores from several different pathogenicity prediction algorithms (Dong et al., 2015). The analysis concluded that only six of the19 would alter protein function. The upshot: 15 of the 87 participants, or 17.2 percent, likely had genes that contributed to their disease. Compared with a cohort of 324 healthy controls, the sporadic ALS patients were almost five times as likely to carry an ALS-linked variant predicted to be harmful, but had only a slightly higher chance of carrying any variant in an ALS-linked gene. The results demonstrate the importance of focusing on genetic associations predicted to be pathogenic, Downie toldAlzforum.

Because the harmful variants all occurred in genes linked to familial disease, it is possible these cases represent unrecognized familial ALS, Downie said. Familial disease can sometimes fly under the radar, either because only a single case shows up in small families, or because new mutations in the germline cause it. This study cannot determine whether the genetic variants it found caused disease or merely heightened risk for it, Downie noted. For example, the SOD1 mutation that turned up typically acts recessively, but neither of the two people affected carried two copies. It is unclear if the gene acted dominantly, predisposed the carriers to the influence of other genetic or environmental risk factors, or had no effect. At least one study has reported a dominant mode of action for the mutation (Al-Chalabi et al., 1998).

The findings also emphasize that the ALS genes known to date account for only a small portion of the predicted genetic risk in sporadic disease. Larger studies are needed to find the missing genes, Downie noted. Genetic studies involving thousands of ALS patients are ongoing, such as Project MinEin the Netherlands.Madolyn BowmanRogers

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Originally posted here:
Pruning Spurious Genetic Links Clarifies Heritability in Sporadic ALS - Alzforum

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Read more from the original source:
You Can Get Your Whole Genome Sequenced. But Should You ... - WIRED