Category Archives: Gene Medicine

February 2, 2009 by Dr. Bertalan Mesk

The 43rd edition is up at Pharmamotion. A great compilation of articles and blogposts about human genetics and personalized medicine. Thank you, Flavio Guzman, for hosting Gene Genie.

Dont forget to submit your articles via e-mail (berci.mesko at gmail.com).

Let me know if you would like to host an edition.

Posted in Gene Genie | 11 Comments

January 19, 2009 by Dr. Bertalan Mesk

The 42nd edition is up at Genetic Future. A great compilation of articles and blogposts about human genetics and personalized medicine. Thank you, Daniel MacArthur, for hosting Gene Genie.

Dont forget to submit your articles via e-mail (berci.mesko at gmail.com).

Let me know if you would like to host an edition.

Posted in Gene Genie | 4 Comments

December 14, 2008 by Dr. Bertalan Mesk

The 41st edition is up at Scienceroll under the edition name Carnivalome. Check out the latest news and blogposts about clinical genetics and personalized medicine.

If you want to host an issue of Gene Genie in 2009, let me know (berci.mesko [at] gmail.com). Dont forget to submit your articles (berci.mesko [at] gmail.com).

Posted in Gene Genie | 1 Comment

November 19, 2008 by Dr. Bertalan Mesk

The 40th edition is up at Human Genetics Disorders. A great compilation of articles and blogposts about human genetics and personalized medicine. Thank you, Chavonne Jones, for hosting Gene Genie.

Posted in Gene Genie | 1 Comment

October 28, 2008 by Dr. Bertalan Mesk

The 39th edition is up at Genetics & Health. A great compilation of articles and blogposts about human genetics and personalized medicine. Thank you, Grace Ibay, for hosting Gene Genie.

Posted in Gene Genie | 2 Comments

October 12, 2008 by Dr. Bertalan Mesk

The 38th edition is up at Scienceroll. Check out the latest news and blogposts about clinical genetics and personalized medicine.

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September 16, 2008 by Dr. Bertalan Mesk

The 37th edition is up at The Genetic Genealogist. A great compilation of articles and blogposts about human genetics and personalized medicine. Thank you, Blaine Bettinger, for hosting Gene Genie.

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Gene Genie | The blog carnival of genes and genetic conditions

Gene therapy, also called gene transfer therapy, introduction of a normal gene into an individuals genome in order to repair a mutation that causes a genetic disease. When a normal gene is inserted into the nucleus of a mutant cell, the gene most likely will integrate into a chromosomal site different from the defective allele; although that may repair the mutation, a new mutation may result if the normal gene integrates into another functional gene. If the normal gene replaces the mutant allele, there is a chance that the transformed cells will proliferate and produce enough normal gene product for the entire body to be restored to the undiseased phenotype.

Human gene therapy has been attempted on somatic (body) cells for diseases such as cystic fibrosis, adenosine deaminase deficiency, familial hypercholesterolemia, cancer, and severe combined immunodeficiency (SCID) syndrome. Somatic cells cured by gene therapy may reverse the symptoms of disease in the treated individual, but the modification is not passed on to the next generation. Germline gene therapy aims to place corrected cells inside the germ line (e.g., cells of the ovary or testis). If that is achieved, those cells will undergo meiosis and provide a normal gametic contribution to the next generation. Germline gene therapy has been achieved experimentally in animals but not in humans.

Scientists have also explored the possibility of combining gene therapy with stem cell therapy. In a preliminary test of that approach, scientists collected skin cells from a patient with alpha-1 antitrypsin deficiency (an inherited disorder associated with certain types of lung and liver disease), reprogrammed the cells into stem cells, corrected the causative gene mutation, and then stimulated the cells to mature into liver cells. The reprogrammed, genetically corrected cells functioned normally.

Prerequisites for gene therapy include finding the best delivery system (often a virus, typically referred to as a viral vector) for the gene, demonstrating that the transferred gene can express itself in the host cell, and establishing that the procedure is safe. Few clinical trials of gene therapy in humans have satisfied all those conditions, often because the delivery system fails to reach cells or the genes are not expressed by cells. Improved gene therapy systems are being developed by using nanotechnology. A promising application of that research involves packaging genes into nanoparticles that are targeted to cancer cells, thereby killing cancer cells specifically and leaving healthy cells unharmed.

Some aspects of gene therapy, including genetic manipulation and selection, research on embryonic tissue, and experimentation on human subjects, have aroused ethical controversy and safety concerns. Some objections to gene therapy are based on the view that humans should not play God and interfere in the natural order. On the other hand, others have argued that genetic engineering may be justified where it is consistent with the purposes of God as creator. Some critics are particularly concerned about the safety of germline gene therapy, because any harm caused by such treatment could be passed to successive generations. Benefits, however, would also be passed on indefinitely. There also has been concern that the use of somatic gene therapy may affect germ cells.

Although the successful use of somatic gene therapy has been reported, clinical trials have revealed risks. In 1999 American teenager Jesse Gelsinger died after having taken part in a gene therapy trial. In 2000 researchers in France announced that they had successfully used gene therapy to treat infants who suffered from X-linked SCID (XSCID; an inherited disorder that affects males). The researchers treated 11 patients, two of whom later developed a leukemia-like illness. Those outcomes highlight the difficulties foreseen in the use of viral vectors in somatic gene therapy. Although the viruses that are used as vectors are disabled so that they cannot replicate, patients may suffer an immune response.

Another concern associated with gene therapy is that it represents a form of eugenics, which aims to improve future generations through the selection of desired traits. Some have argued that gene therapy is eugenic but that it is a treatment that can be adopted to avoid disability. To others, such a view of gene therapy legitimates the so-called medical model of disability (in which disability is seen as an individual problem to be fixed with medicine) and raises peoples hopes for new treatments that may never materialize.

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Gene therapy | medicine | Britannica.com

With a sticker price of $850,000, a gene therapy for blindness will be the most expensive medicine sold in the United States.

The treatment called Luxturna is manufactured by Spark Therapeutics and helps treat Leber congenital aumaurosis, an inherited condition that leads to blindness. The rare condition only affects two to three people per 100,000. The treatment was expected to cost $1 million, but the company said it brought prices down over concerns of accessibility to the drug.

We wanted to balance the value and the affordability concerns with a responsible price that would ensure access to patients, said Jeffrey Marrazzo in an interview Wednesday.

The drug received approval from the U.S. Food and Drug Administration in December, and given its success, most insurers are likely to cover the treatment.

If they decided not to cover it they would immediately have to face negative publicity, said Meredith Rosenthal, a professor of health economics at Harvard University to the Toronto Star.

To further allay concerns over the cost of the drug, Philadelphia-based Spark will use unconventional pricing models and schemes with insurers. Spark reached an agreement with insurer Harvard Pilgrim Wednesday on a rebates program to reimburse the insurer a portion of the procedure if patients dont see the expected improvement in vision.

As far as the price, and the structures to pay the price, I think its all pretty much in line with what were seeing in other innovative therapies, said Dr. Stuart Orkin, a pediatric oncologist at the Dana-Farber Cancer Institute and Boston Childrens Hospital to health website STAT. I do applaud them for thinking through the payment schemes. Its better than if they had just put out a price and said, you know, Youre paying it.'

Luxturna, Spark argues, is much cheaper in the long run than a lifetime of blindness. Luxturna is injected into both eyes to provide patients with a functioning copy of a gene that is defective in their eyes. The non-profit Institute for Clinical and Economic Review, however, said that the drug would need to be far cheaper to be a cost-effective treatment.

At least one medicine in Europe was more expensive, surpassing the $1 million mark, but the gene therapy for a rare protein disorder has been discontinued.

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Blindness Gene Therapy Becomes Most Expensive Medicine In U.S.

Background/objectives: Selenoprotein P (SeP) is involved in transporting selenium from the liver to target tissues. As SeP confers protection against disease by reducing chronic oxidative stress, this study aims to assess the level of SeP in the serum of patients with metabolic syndrome (MetS) with a history of cardiovascular disease (CVD).Subjects/methods: A cross-sectional study was conducted on 63 and 71 subjects with and without MetS in the presence of documented CVD. All demographic, anthropometric and with cardiometabolic variables (lipids, blood glucose, blood pressure) were assessed. Lifestyle related factors and personal history and familial CVD risk factors were recorded. The expression of SELP in mRNA and protein levels in the serum was measured, and MetS was determined using ATPIII criteria. Binary logistic regression analysis demonstrated MetS and SeP as dependent and independent variables, respectively.Results: Mean of systolic and diastolic blood pressure, triglyceride, HDL-C, fasting blood sugar (FBS), BMI, and waist circumference were higher among subjects with MetS (P = 0.05). Mean of selenium is higher among subjects with MetS whereas the mean of SeP was lower among subjects with MetS (P < 0.001). In the unadjusted model, the SeP had decreased odds for MetS (OR, 0.995; 95% CI, 0.989 to 1.00) (P < 0.04). Furthermore, the association between MetS and SeP levels remained marginally significant even after adjusting for potential confounders such as age, gender, family history, smoking status, and nutrition. SeP and WC has a significant relationship (OR, 0.995; 95% CI, 0.990 to 1.00), (P < 0.033).Conclusions: In conclusion, we demonstrated a significant decrease in circulating SeP levels according to MetS status in patients with documented cardiovascular disease.

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The Journal of Gene Medicine | RG Impact & Description ...

Gene Editing Pioneers Selected to Receive Americas Most Distinguished Prize in Medicine

August 15, 2017 - Albany, NY

For their roles in the creation of a remarkable gene editing system that has been called the discovery of the century, five researchers have been announced as the recipients of the Albany Medical Center Prize in Medicine and Biomedical Research for 2017. All five awardees have made important contributions to the development of CRISPR-Cas9, a gene engineering technology that harnesses a naturally occurring bacterial immune system process. The technology has revolutionized biomedical research and provided new hope for the treatment of genetic diseases and more. The awardees are:

The $500,000 award has been given annually since 2001 to those who have altered the course of medical research and is one of the largest prizes in medicine and science in the United States. It will be awarded on Wednesday, Sept. 27 during a celebration in Albany, New York.

The five recipients were chosen to receive the 2017 Albany Prize for their fundamental and complementary accomplishments related to CRISPR-Cas9. CRISPR is an acronym for clustered regularly interspaced short palindromic repeats, a DNA sequence found in the immune system of simple bacterial organisms.

The discovery of these CRISPR sequences in bacteria in the laboratory was the key to the later development of gene editing technology called CRISPR-Cas9 that has allowed scientists to easily and efficiently edit genes by splicing out and replacing or altering sections of DNA in the cells of any organism, including humans (though most current research uses isolated human cells in labs and animal models only). The editing technique has been compared to cutting and pasting words in a computer program.

CRISPR-Cas9 has revolutionized biological research in tens of thousands of laboratories worldwide. Its potential future applications include the possible ability to cure genetic defects such as muscular dystrophy, eradicate cancer, and allow for pig organs to safely be transplanted into humans. Its uses are so varied that CRISPR is being used to alter butterfly wing patterns and it could also someday help make crops hardier.

Though it cannot be used as a drug in patients yet, it is making a significant impact in the clinical world by accelerating drug research. Additionally, in laboratory experiments, CRISPR-Cas9 is being used to try to modify genes to block the HIV virus, and to attempt to change the DNA of mosquitos that carry the Zika virus so that it cannot be passed to humans.

Rarely has such a recent discovery transformed an entire field of research, as CRISPR has in biological research. Its implications for biological processes, including human health and disease are promising and quite profound, said Vincent Verdile, M.D. 84, the Lynne and Mark Groban, M.D. 69, Distinguished Dean of Albany Medical College and chair of the Albany Prize National Selection Committee. The Albany Prize recognizes that such a significant development in science is brought forth by a community of scientists, and, therefore, we felt it was appropriate to name a larger number of recipients than in the past.

CRISPR is an example of how science in the 21st century often works; as a remarkable ensemble act, in which a cast comes together to produce something that not one of them could do alone.

While most studies focus on gene editing in somatic (non-germline) cells, due to the profound ethical implications of modifying genes and impacting our species and environment, many CRISPR scientists, government representatives, ethicists and the general public are actively debating how we as a society ethically use the technology.

According to Dr. Verdile, the CRISPR story is a testament to the importance of basic biomedical research as the gateway to medical and scientific breakthroughs. The discovery of the CRISPR defense mechanism inside bacteria by basic scientists directly led to the development of the CRISPR gene editing system, which has promise for the treatment of disease.

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2017 Albany Prize Recipients

Emmanuelle Charpentier, Ph.D. Director, Department of Regulation in Infection Biology, Max Planck Institute for Infection Biology, BerlinVisiting Professor, Ume University, Sweden and Honorary Professor, Humboldt University

With her recent groundbreaking findings in the field of RNA-mediated regulation based on the CRISPR-Cas9 system, Dr. Charpentier laid the foundation for the development of the novel, highly versatile and precise genome engineering technology that has revolutionized life sciences research and opens new opportunities for the treatment of genetic disease.

She is co-inventor and co-owner of the fundamental intellectual property comprising the CRISPR-Cas9 technology, and co-founder of CRISPR Therapeutics and ERS Genomics, two companies that are developing the CRISPR-Cas9 genome engineering technology for biotechnological and biomedical applications.

Dr. Charpentier studied biochemistry, microbiology and genetics at the University Pierre and Marie Curie in Paris, and obtained her Ph.D. in microbiology for research performed at the Pasteur Institute in Paris. She continued her work at The Rockefeller University, New York University Langone Medical Center and the Skirball Institute of Biomolecular Medicine, all in New York City, and at St. Jude Childrens Research Hospital in Memphis.

She returned to Europe to establish a research group at the University of Vienna in Austria as assistant and associate professor. She was then appointed associate professor at the Laboratory for Molecular Infection Medicine Sweden at Ume University in Sweden where she is still a visiting professor.

In 2013, she was awarded an Alexander von Humboldt Professorship. She served as the head of the Department of Regulation in Infection Biology at the Helmholtz Centre for Infection Research in Braunschweig and professor at the Medical School of Hannover, Germany. In 2015, she was appointed scientific member of the Max Planck Society and director at the Max Planck Institute for Infection Biology in Berlin.

Jennifer Doudna, Ph.D. Professor, Molecular and Cell Biology and Chemistry, University of California, Berkeley

As an internationally renowned professor of chemistry and molecular and cell biology at U.C. Berkeley, Dr. Doudna and her colleagues rocked the research world in 2012 by describing a simple way of editing the DNA of any organism using an RNA-guided protein found in bacteria. This technology, called CRISPR-Cas9, has opened the floodgates of possibility for human and non-human applications of gene editing, including assisting researchers in the fight against HIV, sickle cell disease and muscular dystrophy.

Dr. Doudna is an investigator with the Howard Hughes Medical Institute and a member of the National Academy of Sciences, the National Academy of Medicine, the National Academy of Inventors and the American Academy of Arts and Sciences. She is also a Foreign Member of the Royal Society, and has received many other honors including the Breakthrough Prize in Life Sciences, the Heineken Prize, the BBVA Foundation Frontiers of Knowledge Award and the Japan Prize.

Dr. Doudna received her Ph.D. from Harvard University and was a postdoctoral research fellow in molecular biology at Harvard Medical School, Massachusetts General Hospital. She was the Lucille P. Markey Scholar in Biomedical Science at the University of Colorado. She later served on the faculty at Yale University as the Henry Ford II Professor of Molecular Biophysics and Biochemistry.

She is the co-author with Sam Sternberg of A Crack in Creation, a personal account of her research and the societal and ethical implications of gene editing.

Luciano A. Marraffini, Ph.D. Associate Professor, Laboratory of Bacteriology, The Rockefeller University, New York City

Dr. Marraffini made the seminal discovery that CRISPR-Cas works by cleaving DNA and was the first to propose that this system could be used for genome editing in heterologous systems. He then collaborated with Feng Zhang to perform the first successful editing experiment in eukaryotic (human) cells using CRISPR-Cas9. He continues to elucidate the molecular mechanisms of the CRISPR-Cas immune response in bacteria, including how sequences of viral and plasmid origin are selected to be integrated into CRISPR arrays and how different CRISPR-Cas systems found in different strains of bacteria attack their targets.Dr. Marraffini received his undergraduate degree from the University of Rosario in Argentina and his Ph.D. from the University of Chicago. He was a postdoctoral fellow at Northwestern University in the laboratory of Erik Sontheimer, after which he joined The Rockefeller University as assistant professor and the head of the Laboratory of Bacteriology in 2010. He was named a Howard Hughes Medical Institute-Simons Faculty Scholar in 2016. He is a recipient of the 2015 Hans Sigrist Prize and was named a finalist in the life sciences by the 2015 Blavatnik National Awards for Young Scientists. In 2014, Cell named him one of its 40 Under 40. He is a 2012 Rita Allen Foundation Scholar and a 2011 Searle Scholar, and is the recipient of an NIH Directors New Innovator Award and an RNA Society Award.

Francisco J.M. Mojica, Ph.D.Associate Professor of Microbiology, Department of Physiology, Genetics and Microbiology, University of Alicante, SpainMember of the Multidisciplinary Institute for the Study of the Environment Ramn Margalef, Spain

Dr. Mojicas pioneering work on CRISPR and his fundamental contribution to the knowledge of these components of bacteria for more than two decades makes him a leading scholar on the subject. Thanks to the contributions of Dr. Mojica in this field, exceptional laboratory tools, known as CRISPR-Cas technology, have been developed that can be used for the genetic manipulation of any living being, including humans. This technology has greatly simplified research in biology and medicine, for example, to study complex genetic processes such as those involved in embryonic development, carcinogenesis or neurodegenerative disorders. It is postulated that CRISPR-Cas technology will allow, in the near future, to cure diseases that are not curable or very difficult to tackle.

He received his Ph.D. in Biotechnology from the University of Alicante. He later completed two postdoctoral fellowships in laboratories at the University of Utah, Salt Lake City, and Oxford University in Great Britain. In 1997, he became professor of microbiology at the University of Alicante, founding the research group in molecular microbiology to resume the study on CRISPR he had initiated during his Ph.D. thesis work. In the last few years, his investigation has focused on the CRISPR immunization process, to understand how bacteria acquire foreign genetic material that make them resistant to infecting agents.

He has received many honors including the Lilly Foundation Award for Preclinical Biomedical Research, the Rey Jaime I Prize for Basic Research, and the BBVA Foundation Frontiers of Knowledge Award (biomedicine category).Feng Zhang, Ph.D.Core Member, Broad Institute of MIT and HarvardInvestigator at the McGovern Institute for Brain Research at MITThe James and Patricia Poitras Professor in Neuroscience and Associate Professor, Departments of Brain and Cognitive Sciences and Biological Engineering, Massachusetts Institute of Technology, Cambridge, Mass.

Dr. Zhang is a bioengineer developing and applying novel molecular technologies for studying the molecular and genetic basis of diseases and providing treatment. He played a seminal role in developing optogenetics, a powerful technology for dissecting neural circuits using light. Since joining the Broad and McGovern institutes in January 2011, Zhang has pioneered the development of genome editing tools for use in eukaryotic cells including human cells from natural microbial CRISPR systems.

Following his landmark demonstration that CRISPR-Cas9 could be harnessed for mammalian genome editing, his lab has continued to explore the CRISPR system and develop novel technologies for perturbing and editing the genome for disease research. He and his colleagues have successfully harnessed two additional CRISPR systems: CRISPR-Cpf1, which may allow simpler and more precise genome engineering, and CRISPR-Cas13a, a novel RNA-targeting system, which his team has adapted for use in rapid diagnostics.

Zhang leverages CRISPR and other methods to study the genetics and epigenetics of human diseases, especially complex disorders, such as psychiatric and neurological diseases, that are caused by multiple genetic and environmental risk factors and which are difficult to model using conventional methods. His labs tools, which he has made widely available, are also being used in the fields of immunology, clinical medicine, and cancer biology, among others. His long-term goal is to develop novel therapeutic strategies for disease treatment.He received his A.B. in chemistry and physics from Harvard College and his Ph.D. in chemistry from Stanford University.

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The Albany Medical Center Prize was established in 2000 by the late Morris Marty Silverman, a New York City businessman and philanthropist who grew up in Troy, N.Y., to honor scientists whose work has demonstrated significant outcomes that offer medical value of national or international importance. A $50 million gift commitment from the Marty and Dorothy Silverman Foundation provides for the prize to be awarded annually for 100 years.

Three previous Nobel Prize winners have been among the ranks of researchers honored, and five Albany Prize recipients have gone on to win the Nobel Prize, including Shinya Yamanaka, M.D., Ph.D., a leading stem cell scientist; Elizabeth Blackburn, Ph.D., who discovered the molecular nature of telomeres; Bruce Beutler, M.D., and the late Ralph Steinman, M.D., for their discoveries regarding the detailed workings of the immune system; and Robert Lefkowitz, M.D., for his work on cell receptors.

For biographies and downloadable photos of the 2017 recipients, and more information on the Albany Medical Center Prize in Medicine and Biomedical Research, visit: http://www.amc.edu/Academic/AlbanyPrize.

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Media Inquiries:

Sue Ford Rajchel

fords@mail.amc.edu

(518) 262 - 3421

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Gene Editing Pioneers Receive Americas Most Distinguished ...

Gene therapy is an experimental method of fighting disease that involves correcting or replacing a persons mutated or malfunctioning genes. This promising research is now being used in clinical trials and may lead to improved health outcomes for patients with inherited bleeding and immune disorders as well as some forms of blood cancer and other diseases.

What Is Gene Therapy?

Genes carry the DNA information needed to make proteins that are the building blocks of the human body. Some of these genes can become damaged through mutation, which can lead to disease conditions. Gene therapy is a scientific technique that uses genes to prevent or treat disease in a number of different ways:

Finding the Keys to Alter Body Chemistry

Currently, gene therapy can be used for conditions in which a change in the genetic coding of somatic cells can alter the course of a disease. For example, to correct a disease in which a specific enzyme is missing, the addition of a necessary gene component for production of the enzyme would fix the underlying problem of the disease. In many cases, harmless viruses are employed to serve as packets to carry the new gene to where it is needed. When used this way, the viruses are called vectors, and their own genes may be removed and replaced with the working human gene. Once the gene is correctly placed, it can be switched on to provide the working instructions for correct function.

Conditions Being Treated with Gene Therapy

Although much of this may still sound like the realm of mad scientists tinkering with the human body, gene therapy is an accepted experimental technique that is currently being used to help patients with certain types of cancer to target specific antibodies that can be used to fight the disease. Gene therapy is also being used to correct deficiencies in the production of dopamine, such as in Parkinsons disease, correct some immune system problems, and restore components needed for normal blood cell function in those with certain blood diseases, such hemophilia and beta-Thalassemia. Gene therapy holds promise for treating a wide range of diseases, including cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS.

Potential Risks

Gene therapy does come with some potential risks, all of which, researchers are hoping to overcome. Because the genes have to be delivered using a carrier or vector, the bodys immune system may see the newly introduced viruses as intruders and attack them. Its also possible that the altered viruses may infect additional cells, not just the targeted cells containing mutated genes. There may also be some concern that the viruses may recover their original ability to cause disease, or that the new genes get inserted in the wrong spot in a patients DNA, leading to tumor formation.

Hope for the Future

Gene therapy holds promise as an effective treatment option for a variety of diseases at some point in the near future. An estimated 4,000 medical conditions are a result of gene disorders. If some of these genetic problems can be corrected through gene replacement or manipulation, individuals suffering from these diseases may enjoy longer, healthier lives, free of symptoms and the associated medical expenses.

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Gene Therapy The Future of Medicine? | Science Care