Dennis Thompson HealthDay Reporter Posted: Thursday, January 16, 2014, 2:00 PM

THURSDAY, Jan. 16, 2014 (HealthDay News) -- A new gene therapy that successfully treated a rare eye disease in clinical trials could prove the key to preventing more common inherited causes of blindness, researchers say.

In six male patients, doctors used a virus to repair a defective gene that causes choroideremia, a degenerative eye disease that can lead to complete blindness by middle age, according to a clinical trial report published online Jan. 16 in The Lancet.

Vision improved for all the patients following the gene therapy, and particularly for two patients with advanced choroideremia, said lead author Robert MacLaren of the Nuffield Laboratory of Ophthalmology at the University of Oxford, and a consultant surgeon at the Oxford Eye Hospital, in England.

"In truth, we did not expect to see such dramatic improvements in visual acuity and so we contacted both patients' home opticians to get current and historical data on their vision in former years, long before the gene therapy trial started," MacLaren said in a university news release. "These readings confirmed exactly what we had seen in our study and provided an independent verification."

While choroideremia is a rare disease, affecting about one in every 50,000 people, doctors believe the process used to treat it could be turned toward more common inherited eye disorders, such as macular degeneration or retinitis pigmentosa.

"This is something that we've been trying to accomplish for years in retinal science, and it's very encouraging," said Dr. Mark Fromer, an ophthalmologist at Lenox Hill Hospital, in New York City.

Fromer, who was not involved with the new research, predicted that gene therapy could in the future be used to prevent blindness by fixing defective genes in patients before something like macular degeneration can even take root.

"We'll go from putting a Band-Aid on the lesion to preventing it from happening. This is a new pathway to fix things before they get broken," said Fromer, who is also the eye surgeon for the National Hockey League's New York Rangers

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Gene Therapy May Restore Sight in People With Rare Blinding Disease

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Harold Schmeck Pines, Maya, ed. "Blazing the Genetic Trail." Bethesda, MD: Howard Hughes Medical Institute, 1991.

The eminent British molecular biologist Sydney Brenner once got a hearty laugh from his audience by describing how some future graduate student will define a mouse: "ATC, GCC, AAG, GGT, GTA, ATA. . . ." But every year the idea of defining an organism by the sequence of its DNA bases seems a little less farfetched.

Victor McKusick, of The Johns Hopkins University School of Medicine, notes that scientists' growing ability to read and write in the language of the genes has already explained some of the once-mysterious basic concepts of genetics. The difference between dominant and recessive traits as causes of genetic disease used to be just an abstraction based on a great deal of observation. If a genetic defect expressed itself only in patients who inherited the trait from both parents, it was called recessive; both copies of the gene coding for the trait were presumably defective, resulting in disease. If the trait was dominant, on the other hand, it meant that one defective copy of the gene was sufficient to spell disaster.

But why should some disorders require two mistakes, while others resulted from only one? Molecular biology has given a concrete and remarkably simple explanation.

"It now appears that these two categories [recessive and dominant] correspond pretty closely to the two fundamental categories of proteins: enzymatic and structural," McKusick said in a recent review of genetics research. Recessive disorders tend to result from failures in genes that code for enzymes, the biological catalysts that do much of the body's chemical work. A person who has inherited the defective gene from only one parent often goes disease-free because the normal gene inherited from the other parent produces enough of the enzyme to serve the body's needs. The disorder appears only when the person inherits the same defect from both parents and therefore lacks any working copy of the normal gene.

If the genetic defect affects structural proteins, however, for example, collagen, a key component of connective tissues and bones, one copy of the faulty gene is usually enough to cause disease. It is easy to see why. A four-engine airplane can still fly even if one of its engines fails, as long as the other engines provide enough power, but a single faulty strut that makes a wing fall off will cause the plane to crash.

The reason some genetic disorders are relatively common while most are extremely rare has also proved to be almost ridiculously obvious. The bigger the gene, the greater the chance that something will go wrong with part of it. In many cases, it seems as simple as that.

Sometimes rather subtle differences in the defects of a single gene can make a profound difference in a patient's fate, as Louis Kunkel of the HHMI unit at Harvard University learned after he and his team discovered the gene for Duchenne muscular dystrophy (DMD) in 1986. Major flaws in that huge gene result in the presently incurable DMD, a muscle-wasting disease that leaves young boys wheelchair-bound by age 12 and generally kills them by age 20, because the muscles that control breathing fail. By contrast, lesser defects in that same gene produce a much more benign disease, Becker's muscular dystrophy.

A year after discovering this gene, the team identified the protein it codes for - a previously unknown protein, now named dystrophin, which occurs in muscles in such small amounts that it would never have been found by ordinary means. Dystrophin plays a key role in muscle cells and may be involved in many other muscle diseases. Researchers are now analyzing how dystrophin functions, what other proteins it interacts with, and whether it might be replaced to interrupt the course of disease.

Experts see many more insights such as these in the future, as research in molecular genetics opens some of the "black boxes" of biology.

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The Future Of Genetic Research - Access Excellence

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PUBLIC RELEASE DATE:

16-Jan-2014

Contact: Cody Mooneyhan cmooneyhan@faseb.org 301-634-7104 Federation of American Societies for Experimental Biology

Research involving rats suggests that there is a biological link between paternal diet, bodyweight and health at the time of conception and the health of his offspring. In a new research report published online in The FASEB Journal, scientists show that if male rats ate a high fat diet, had diabetes and were obese, their offspring had altered gene expression in two important metabolic tissues--pancreas and fat (even though they were not yet obese). This altered gene expression may increase the risk of future obesity and premature aging. Other genes that were affected include markers of premature aging, cancer, and chronic degenerative disease.

"While scientists have focused on how the maternal diet affects children's health, this study is part of exciting new research exploring the impact of paternal diet on offspring risk of obesity," said Margaret Morris, Ph.D., a researcher involved in the work from the Pharmacology School of Medical Sciences at the University of New South Wales in Sydney, Australia. "The fact that similar gene markers were affected in pancreas and fat tissue tells us that some of the same pathways are being influenced, possibly from the earliest stages of life. It will be important to follow up these findings, and to learn more about when and how to intervene to reduce the impact of poor paternal metabolic health on offspring."

To make this discovery, Morris and colleagues used two groups of male rats, one of which was obese and diabetic and fed a high-fat diet; and the other was lean and healthy and fed a normal diet. The two groups of males were mated with lean female rats, and researchers examined their female offspring. Those who were born from obese fathers on a high-fat diet, showed a poor ability to respond to a glucose challenge, even while consuming a healthy diet. Specifically, the offspring of the obese rats showed gene expression changes in pancreatic islets, which are responsible for producing insulin to control blood glucose and the fat tissue of their female offspring.

"For a long time, we've known that the nutrition and health status of women who are pregnant or who want to get pregnant is critical to the health of her offspring, and we've also suspected that the same is true for fathers to a lesser degree," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal. "This report is the first step in understanding exactly how the nutrition and health of fathers affects his children, for better or worse."

###

Receive monthly highlights from The FASEB Journal by e-mail. Sign up at http://www.faseb.org/fjupdate.aspx. The FASEB Journal is published by the Federation of the American Societies for Experimental Biology (FASEB). It is among the most cited biology journals worldwide according to the Institute for Scientific Information and has been recognized by the Special Libraries Association as one of the top 100 most influential biomedical journals of the past century.

FASEB is composed of 27 societies with more than 110,000 members, making it the largest coalition of biomedical research associations in the United States. Our mission is to advance health and welfare by promoting progress and education in biological and biomedical sciences through service to our member societies and collaborative advocacy.

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Fathers' diet, bodyweight and health at conception may contribute to obesity in offspring

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Genetic Engineering: Challenging our perspectives on reproduction by Dr. Gary Fritz

By: Wafeek Wahby

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Artificial manipulation, modification, and recombination of DNA or other nucleic-acid molecules in order to modify an organism or population of organisms. The term initially meant any of a wide range of techniques for modifying or manipulating organisms through heredity and reproduction. Now the term denotes the narrower field of recombinant-DNA technology, or gene cloning, in which DNA molecules from two or more sources are combined, either within cells or in test tubes, and then inserted into host organisms in which they are able to reproduce. This technique is used to produce new genetic combinations that are of value to science, medicine, agriculture, or industry. Through recombinant-DNA techniques, bacteria have been created that are capable of synthesizing human insulin, human interferon, human growth hormone, a hepatitis-B vaccine, and other medically useful substances. Recombinant-DNA techniques, combined with the development of a technique for producing antibodies in great quantity, have made an impact on medical diagnosis and cancer research. Plants have been genetically adjusted to perform nitrogen fixation and to produce their own pesticides. Bacteria capable of biodegrading oil have been produced for use in oil-spill cleanups. Genetic engineering also introduces the fear of adverse genetic manipulations and their consequences (e.g., antibiotic-resistant bacteria or new strains of disease). See also biotechnology, molecular biology.

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Genetic engineering - Definition and More from the Free ...

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Paw Print Genetics 2014 commercial.

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Epilepsy genetics: the impact on clinical practice - Ingrid Scheffer
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Gene therapy improves vision for patients facing blindness
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Gene therapy is the insertion of genes into an individual's cells and tissues to treat a disease, and hereditary diseases in which a defective mutant allele is replaced with a functional one.

Although the technology is still in its infancy, it has been used with some success.

Antisense therapy is not strictly a form of gene therapy, but is a genetically-mediated therapy and is often considered together with other methods.

In most gene therapy studies, a "normal" gene is inserted into the genome to replace an "abnormal," disease-causing gene.

A carrier called a vector must be used to deliver the therapeutic gene to the patient's target cells.

Currently, the most common type of vectors are viruses that have been genetically altered to carry normal human DNA.

Viruses have evolved a way of encapsulating and delivering their genes to human cells in a pathogenic manner.

Scientists have tried to harness this ability by manipulating the viral genome to remove disease-causing genes and insert therapeutic ones. Target cells such as the patient's liver or lung cells are infected with the vector.

The vector then unloads its genetic material containing the therapeutic human gene into the target cell.

The generation of a functional protein product from the therapeutic gene restores the target cell to a normal state. In theory it is possible to transform either somatic cells (most cells of the body) or cells of the germline (such as sperm cells, ova, and their stem cell precursors).

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Gene therapy - Science Daily

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Last Updated Jan 16, 2014 11:10 PM EST

Sixty-two-year-old Jonathan Wyatt was diagnosed at age 20 with choroideremia, a rare genetic disorder that causes progressive blindness. In recent years, he was unable to read. He was one of six patients in the gene therapy trial.

Jonathan Wyatt was diagnosed at age 20 with choroideremia, a rare genetic disorder that causes progressive blindness

CBS News

People with the disease lack a gene that helps the eye make a protein needed for normal vision. When scientists injected a copy of that gene into the eye, the retinal cells started producing the protein. All six patients had improved vision and two, including Wyatt, had dramatic results.

Robert Maclaren of Oxford University led the study.

Rather than taking a pill or proteins or tablets, were actually correcting the disease at the genetic level, Maclaren said. In other words, genetically modifying the patients who have the problems to put the gene back thats missing.

"Well, this is a game changer because this is something that's been hypothesized and worked on for almost two decades, Schwartz told CBS News. The eye is the perfect organ into which gene therapy can begin to be successful because it's small, the amount of medication that needs to go into the eye is low, it's relatively safe.

One way this therapy could be useful in patients with macular degeneration is to eliminate the need for monthly injections of drugs into the eye. A single gene treatment could teach the eye to produce the medicine itself, but more testing is needed.

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Gene therapy has clear results for seeing-impaired

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By delivering gene therapies to patients before they go blind, doctors may be able to prevent the loss of many important light-detecting cells.

Light preserver: Robert MacLaren performs retinal surgery on a patient participating in a gene therapy experiment at the Oxford University Eye Hospital.

A new kind of gene therapy has reversed some vision loss in people born with a degenerative eye disease for which there is no existing treatment.

In a first for the field, the treatment can be given to some participants who still had 20/20 vision, albeit in a limited field of vision. By delivering gene therapy at an earlier stage, researchers hope to save more light-sensing cells in the retina.

We need to push gene therapy forward, to apply it before vision is gone, says Robert MacLaren, an ophthalmologist at the University of Oxford who led the study. When retinal damage gets to a certain point, its beyond repair.

MacLaren says earlier treatment could also be particularly important for conditions such as retinitis pigmentosa and age-related macular degeneration.

The surgical procedure employed put the precious remaining vision of patients in the trial at risk because it involved detaching delicate retina tissue in one of each participants eyes, but so far no problems have occurred since that surgery, the researchers report. Some participants report that theyre now able to detect more light, read more letters and numbers, and even see the stars at night. One patient, who before his treatment could not read any lines on an eye chart with his most affected eye, was able to read three lines with that eye following his treatment.

The condition addressed in the work is choroideremia, an eye disease that affects an estimated one in every 50,000 people. Because the gene that causes this disease is on the X chromosome, it primarily affects males. Starting in late childhood usually, the condition causes progressive narrowing or tunneling of vision and often ends in blindness. The condition gradually wipes out the light-detecting rods and cones in the retina.

The experimental treatment adds a working copy of the culpable gene to the retinal cells of patients born with a defective copy. The trial also involved an experimental way of delivering gene therapy to the eye. Each patients retina was first lifted, and the gene therapy was injected into the space created under the retina. MacLaren and colleagues report on the condition of six patients in a study published on Wednesday in the Lancet.

Other groups are also developing gene therapies for retinal diseases. This includes a group at Childrens Hospital of Philadelphia, which recently funded a new company to continue human trials of a treatment for Lebers Congenital Amaurosis, another inherited form of retinal degeneration (see New Gene Therapy Company Launches).

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Gene Therapy Tested as a Way to Stop Blindness

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Gajendra negi spinal cord injury. quadri plegic c5,c6 patient shifted floor to bed video !
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Belgian medical researchers have succeeded in repairing bones using stem cells from fatty tissue, with a new technique they believe could become a benchmark for treating a range of bone disorders.

The team at the Saint Luc university clinic hospital in Brussels have treated 11 patients, eight of them children, with fractures or bone defects that their bodies could not repair, and a spin-off is seeking investors to commercialize the discovery.

Doctors have for years harvested stem cells from bone marrow at the top of the pelvis and injected them back into the body to repair bone.

The ground-breaking technique of Saint Luc's centre for tissue and cellular therapy is to remove a sugar cube sized piece of fatty tissue from the patient, a less invasive process than pushing a needle into the pelvis and with a stem cell concentration they say is some 500 times higher.

The stem cells are then isolated and used to grow bone in the laboratory. Unlike some technologies, they are also not attached to a solid and separate 'scaffold'.

"Normally you transplant only cells and you cross your fingers that it functions," the centre's coordinator Denis Dufrane told Reuters television.

His work has been published in Biomaterials journal and was presented at an annual meeting of the International Federation for Adipose Therapeutics and Science (IFATS) in New York in November.

BONE FORMATION

"It is complete bone tissue that we recreate in the bottle and therefore when we do transplants in a bone defect or a bone hole...you have a higher chance of bone formation."

The new material in a lab dish resembles more plasticine than bone, but can be molded to fill a fracture, rather like a dentist's filling in a tooth, hardening in the body.

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Belgian researchers use groundbreaking surgery to repair bones

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San Diego, CA (PRWEB) January 16, 2014

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Ovation Hair® Sweetens Valentine’s Day with Exclusive Gift Set

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Scientists hope early intervention with the surgical treatment will halt progression of the devastating disorder, choroideremia, before patients are robbed of their sight.

It is the first time gene therapy has successfully been applied to the light-sensitive photoreceptors of the retina, the digital camera at the back of the eye.

Preliminary results from the first six patients taking part in a Phase One trial surprised and delighted the Oxford University team.

Although the trial was only designed to test safety and dosages, two men with relatively advanced disease experienced dramatic improvements to their eyesight.

The researchers are now planning a larger Phase II trial that will focus on the therapy's effectiveness.

Professor Robert MacLaren, who led the gene therapy operations at Oxford Eye Hospital, said: "We're absolutely delighted with the results so far.

"It is still too early to know if the gene therapy treatment will last indefinitely, but we can say that the vision improvements have been maintained for as long as we have been following up the patients, which is two years in one case.

"In truth, we did not expect to see such dramatic improvements in visual acuity and so we contacted both patients' home opticians to get current and historical data on their vision in former years, long before the gene therapy trial started.

"These readings confirmed exactly what we had seen in our study and provided an independent verification."

The ground-breaking research could pave the way to gene therapy treatments for more common blinding conditions, including age-related macular degeneration and retinitis pigmentosa, another inherited disease.

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Gene therapy gives sight back to patients due to go blind

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