Archive for the ‘Gene Therapy Research’ Category
Cushing's syndrome: A genetic basis for cortisol excess
PUBLIC RELEASE DATE:
27-Feb-2014
Contact: Luise Dirscherl presse@lmu.de 49-892-180-2706 Ludwig-Maximilians-Universitt Mnchen
An international team of researchers led by an endocrinologist at Ludwig-Maximilians-Universitaet (LMU) in Munich has identified genetic mutations that result in uncontrolled synthesis and secretion of the stress hormone cortisol.
Cortisol is a hormone that is produced by the adrenal gland in response to stressful events, and modulates a whole spectrum of physiological processes. An international research collaboration has now identified genetic mutations that lead to the production and secretion of cortisol in the absence of an underlying stressor.
The discovery emerged from the genetic characterization of benign tumors of the adrenal gland which produce cortisol in excess amounts. Patients who develop such tumors suffer from weight gain, muscle wasting, osteoporosis, diabetes and hypertension. This condition, known as Cushing's syndrome, can be successfully treated by surgical removal of the affected adrenal gland.
Overproduction of cortisol
The team, which included researchers from Germany, France and the US and was led by Professors Felix Beuschlein and Martin Fassnacht of the LMU Medical Center, were able to show that in one-third of a patient population with such adrenal tumors, a mutation in the gene for the enzyme phosphokinase A was specifically associated with the continuous production of cortisol. This mutation had occurred in the adrenal gland and is therefore restricted to the tumor cells. The results have just appeared in the prestigious New England Journal of Medicine.
"The gene for phosphokinase A plays a key role in the regulation of adrenal gland function, and the newly identified mutation causes it to become irreversibly activated, which results in the unrestrained production of cortisol," says Felix Beuschlein. In collaboration with a group at the US National Institutes of Health, the team was also able to identify patients who carry similar genetic alterations in their germline DNA. In these families, Cushing's syndrome occurs as a heritable genetic disease.
The elucidation of the genetic mechanism responsible for a significant fraction of cases of Cushing's syndrome provides a new diagnostic tool, and may also lead to new approaches to treatment. To enable further investigations towards this end, the German Cushing Register, which is maintained by Professor Martin Reincke at the LMU Medical Center, has received a grant of 400,000 euros from the Else Krner-Fresenius Foundation. A recently initiated European research consortium devoted to the study of Cushing's syndrome, of which Professors Beuschlein and Fassnacht are members is supported by a grant of 700,000 euros from the ERA-NET program administered by the Federal Ministry for Education and Research.
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Cushing's syndrome: A genetic basis for cortisol excess
Personalized medicine has finally arrived — or has it?
PUBLIC RELEASE DATE:
26-Feb-2014
Contact: Michael Bernstein m_bernstein@acs.org 202-872-6042 American Chemical Society
As the price for decoding a person's DNA keeps dropping, expectations for personalized medicine based on specific genetic profiling rise. But translating an individual's genetic data into finely tailored medical treatments still faces major challenges, explains a new article in Chemical & Engineering News (C&EN), the weekly magazine of the American Chemical Society.
Rick Mullin, senior editor at C&EN, notes that advances in DNA sequencing have allowed researchers to design some therapies, particularly in the cancer realm, for patients with certain genetic traits. As the technology for reading people's genes improves and drops even further in cost, more progress is on the horizon. The U.S. Food and Drug Administration, the government body responsible for approving pharmaceuticals for commercialization, supports these efforts. With the stars seemingly aligned, some industry experts have declared that the age of personalized medicine has arrived. So why do others claim that victory is still a long way off?
The article points out that when pharmaceutical labs launched their search for new drugs based on genomics more than 15 years ago, the focus was almost exclusively on DNA sequences. But now researchers have realized that for personalized medicine to truly take hold, they need to also pay attention to individuals' health histories, their environments and how their genes actually translate into physical traits. This requires a shift in thinking, plus closer ties between the research and clinical sides, and ultimately, insurers. But perhaps the tallest barrier is cultural an attitude among some in the health care industry to simply continue business as usual.
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Personalized medicine has finally arrived -- or has it?
Genetika Bonjaka (Genetics Bosniaks) – Video
Genetika Bonjaka (Genetics Bosniaks)
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Codex Minecraft Attack of the B-Team | Episode 5: Advanced Advanced Genetics – Video
Codex Minecraft Attack of the B-Team | Episode 5: Advanced Advanced Genetics
CodexMC members ----------------------- BrhysH: https://www.youtube.com/user/Brhys1 Mr_Ging: https://www.youtube.com/channel/UCoK71ktgWpeKVc-ocW-E8kg Joe Bil...
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Clinical Genetics and Epigenetics: Precision Medicine for Age Management by Florence Comite, MD – Video
Clinical Genetics and Epigenetics: Precision Medicine for Age Management by Florence Comite, MD
This is a preview of a lecture given at the 2013 Age Management Medicine Conference in Las Vegas. The full lecture with video of the speaker and slides is av...
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Clinical Genetics and Epigenetics: Precision Medicine for Age Management by Florence Comite, MD - Video
Coconut Oil For Hair Growth and OTC (ovation Cell Therapy ) Alternative! – Video
Coconut Oil For Hair Growth and OTC (ovation Cell Therapy ) Alternative!
Heard of OTC (Ovation Cell Therapy) on the radio? Well it #39;s amazing, and EXPENSIVE! Here #39;s what I use instead: MegaTek hair repair conditioner I also use coc...
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Should I Remove My Ovaries? Demystifying Cancer Gene Research
A new study shows that women who have a gene mutation called BRCA1 can greatly reduce their risk of deadly ovarian cancer if they have their ovaries removed while young. For many women, this can be a difficult and heart-wrenching choice beginning with asking the right questions. Here are some basics on how this research might affect you.
Watch Dr. Nancy Snyderman's Nightly News report here:
Step one is to talk to a doctor. They can use a tool called a risk calculator to help you figure out if you have a high enough risk to justify getting the test. Myriad Genetics, the company that made the first BRCA gene tests, has a risk calculator. The National Cancer Institute offers one here. You can find an outline of ovarian cancer risks at the Ovarian Cancer Alliance. And a group called Facing Our Risk Empowered also provides guidance.
Just because your mother had breast cancer doesnt mean youll get it, and it doesnt mean that you have this genetic mutation. Monday's findings only apply to women with BRCA1 mutations -- and those only account for a small percentage of breast cancer cases.
Having a close relative like a mother or sister does raise your risk of breast cancer, but it doesnt mean you have a mutation. The U.S. Preventive Services Task Force recommends that only women with a strong family history consider getting a BRCA genetic test.
This makes it a tough decision. An analysis of all the women in the study showed that the best protection was for women who removed their ovaries by the age of 35. Thats before some women have finished, or even started, a family. Women without ovaries cannot naturally conceive. There are some options, such as having your eggs frozen or, if you have a partner, having IVF and freezing the embryos, and then deciding whether to try to become pregnant without fallopian tubes or to have a surrogate gestate the embryo.
No. Doctors remove ovaries in order to slash the bodys production of estrogen, the hormone that fuels most cases of breast cancer. Replacing the estrogen would be risky and might undo the protection provided.
It is true that many cases of breast cancer are linked to poor diet and a lack of exercise. But thats whats called sporadic breast cancer -- the kind that isn't caused by an inherited gene mutation. So while most women can lower their risk of breast cancer by eating plenty of fresh fruits and vegetables and getting daily vigorous exercise, that's not the case for women with BRCA1 mutations. The mutation has destroyed the bodys ability to repair the damage that leads to tumors.
They studied more than 5,000 women and compared women who chose to have their ovaries removed to women who did not, or who waited for a few years after finding out they had the mutation. Not very many of the women developed cancer -- just 186 of them got ovarian cancer or a related cancer over six years of follow up.
That was the good news.
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Should I Remove My Ovaries? Demystifying Cancer Gene Research
Early ovary removal may reduce cancer risk, study says
For women who carry a notorious cancer gene, surgery to remove healthy ovaries is one of the most protective steps they can take. New research suggests some may benefit most from having the operation as young as 35.
Women who inherit either of two faulty BRCA genes are at much higher risk of developing breast and ovarian cancer than other women, and at younger ages. Actress Angelina Jolie generated headlines last year when she had her healthy breasts removed to reduce her cancer risk.
Monday's study is the largest yet to show the power of preventive ovarian surgery for those women. The surgery not only lowers their chances of getting either ovarian or breast cancer. The study estimated it also can reduce women's risk of death before age 70 by 77 percent.
Ovarian cancer is particularly deadly, and there is no good way to detect it early like there is for breast cancer. So for years, doctors have advised BRCA carriers to have their ovaries removed between the ages of 35 and 40, or when women are finished having children.
The new study suggests the surgery, called an oophorectomy, should be timed differently for the different genes.
For women who carry the higher-risk BRCA1, the chance of already having ovarian cancer rose from 1.5 percent at age 35 to 4 percent at age 40, said lead researcher Dr. Steven Narod of the University of Toronto. After that, the risk jumped to 14 percent by age 50.
In contrast, the researchers said carriers of the related BRCA2 gene could safely delay surgery into their 40s. The study found only one case in a woman younger than 50.
Ovarian surgery "is the cornerstone for cancer prevention," declared Narod, whose team published the research in the Journal of Clinical Oncology. "The typical woman with a BRCA1 mutation will benefit to a large extent from an oophorectomy at age 35, and we want to make that a pretty standard recommendation."
Future studies would have to verify the findings, and other specialists urged caution.
Waiting until age 40 for ovary removal, as many women with BRCA1 do today, makes a very small difference, stressed Dr. Claudine Isaacs, an oncologist and cancer risk specialist at Georgetown University's Lombardi Comprehensive Cancer Center, who wasn't involved in the new research.
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Early ovary removal may reduce cancer risk, study says
New study finds concussion-related health problems in retired football players
PUBLIC RELEASE DATE:
25-Feb-2014
Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News
New Rochelle, NY, February 25, 2014Repeated concussions and mild brain trauma can result in reduced levels of growth hormone, gonadotropin, and testosterone, causing disorders such as metabolic syndrome and erectile dysfunction and overall poor quality of life. The results of a new study of retired professional football players that compares number of concussions sustained during their careers and health problems associated with hormonal deficiency is published in Journal of Neurotrauma, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The article is available free on the Journal of Neurotrauma website at http://www.liebertpub.com/neu.
In the article "Prevalence of pituitary hormone dysfunction, metabolic syndrome and impaired quality of life in retired professional football players: a prospective study," the authors report that more than 50% of the retired players evaluated for growth hormone deficiency, hypogonadism, and quality of life had suffered at least three concussions during their careers in the National Football League. Repeat concussion is common in the NFL.
John T. Povlishock, PhD, Editor-in-Chief of Journal of Neurotrauma and Professor, Medical College of Virginia Campus of Virginia Commonwealth University, Richmond, notes that "although as emphasized by the authors, this study awaits further confirmation with expanded sample sizes and a more critical linkage to a history of concussion intensity and intervals between the concussive injuries, the findings are of considerable interest. Importantly, this study moves us away from the singular focus that repetitive concussive brain injuries ultimately lead to chronic traumatic encephalopathy to the premise that such injuries can elicit pituitary dysfunction and metabolic syndrome that may be significant contributors to a poor quality of life in a subset of professional athletes."
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Vicki Cohn Mary Ann Liebert, Inc., publishers 914-740-2100 vcohn@liebertpub.com
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Dr Shane McKee – Video
Dr Shane McKee
Shane says, "I #39;m a doctor in Genetic Medicine, but I #39;m intrigued by Egypt, science, the development of religions and many other esoteric pursuits. I have a b...
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Researchers crack the genetic secret of mosquito resistance to DDT and ITNs
22 hours ago
Researchers from LSTM have found that a single genetic mutation causes resistance to DDT and pyrethroids (an insecticide class used in mosquito nets). With the continuing rise of resistance the research, published in the journal Genome Biology, is key as scientists say that this knowledge could help improve malaria control strategies.
The researchers, led by Dr Charles Wondji, used a wide range of methods to narrow down how the resistance works, finding a single mutation in the GSTe2 gene, which makes insects break down DDT so it's no longer toxic. They have also shown that this gene makes insects resistant to pyrethroids raising the concern that GSTe2 gene could protect mosquitoes against the major insecticides used in public health.
Mosquitoes (Anopheles funestus) are vectors of malaria, and most strategies for combating the spread of the disease focus on control of mosquito populations using insecticides. The spread of resistance genes could hold back efforts to prevent the disease. The authors say that knowing how resistance works will help to develop tests, and stop these genes from spreading amongst mosquito populations.
Charles Wondji said: 'We found a population of mosquitoes fully resistant to DDT (no mortality when they were treated with DDT) but also to pyrethroids. So we wanted to elucidate the molecular basis of that resistance in the population and design a field applicable diagnostic assay for its monitoring.'
They took mosquitoes from Pahou in Benin, which were resistant to DDT and pyrethroids, and mosquitoes from a laboratory fully susceptible strain and did a genome wide comparison study. They identified the GSTe2 gene as being upregulated - producing a lot of protein - in Benin mosquitoes.
They found that a single mutation (L119F) changed a non-resistant version of the GSTe2 gene to a DDT resistant version. They designed a DNA-based diagnostic test for this type of resistance (metabolic resistance) and confirmed that this mutation was found in mosquitoes from other areas of the world with DDT resistance but was completely absent in regions without. X-ray crystallography of the protein coded by the gene illustrated exactly how the mutation conferred resistance, by opening up the 'active site' where DDT molecules bind to the protein, so more can be broken down. This means that the mosquito can survive by breaking down the poison into non-toxic substances.
They also introduced the gene into fruit flies (Drosophila melanogaster) and found they became resistant to DDT and pyrethroids compared to controls, confirming that just this single mutation is enough to make mosquitoes resistant to both DDT and permethrin.
Wondji says: 'For the first time, we have been able to identify a molecular marker for metabolic resistance (the type of resistance most likely to lead to control failure) in a mosquito population and to design a DNA-based diagnostic assay. Such tools will allow control programs to detect and track resistance at an early stage in the field, which is an essential requirement to successfully tackle the growing problem of insecticide resistance in vector control. This significant progress opens the door for us to do this with other forms of resistance as well and in other vector species.'
Explore further: Second door discovered in war against mosquito-borne diseases
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Researchers crack the genetic secret of mosquito resistance to DDT and ITNs
Lot 31 Warner Beef Genetics – Video
Lot 31 Warner Beef Genetics
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Lot 33 Warner Beef Genetics
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Lot 38 Warner Beef Genetics
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Lot 95 Warner Beef Genetics – Video
Lot 95 Warner Beef Genetics
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Lot 82 Warner Beef Genetics
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Lot 84 Warner Beef Genetics
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Minecraft :: Advanced Genetics :: Attack of the B-Team E12 – Video
Minecraft :: Advanced Genetics :: Attack of the B-Team E12
Minecraft Attack of the B-Team is a CRAZY modpack from technic with some really fun and off the wall mods. You can get the modpack here http://tinyurl.com/nu...
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Colon Issues — Crohn’s disease and genetics. – Video
Colon Issues -- Crohn #39;s disease and genetics.
Colon Issues -- Crohn #39;s disease and genetics. Richard P. Holm, MD visits about Colon Issues with Scott Baker, MD, FACS, FASCRS with Surgical Institute of Sou...
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Colon Issues — Colon cancer and genetics/family history; when to have a colonoscopy. – Video
Colon Issues -- Colon cancer and genetics/family history; when to have a colonoscopy.
Colon Issues -- Colon cancer and genetics/family history; when to have a colonoscopy. Richard P. Holm, MD visits about Colon Issues with Scott Baker, MD, FAC...
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Interview with T. Michael Redmond, Ph.D. – Video
Interview with T. Michael Redmond, Ph.D.
National Eye Institute (NEI) Scientist Dr. Redmond talks about the combination of luck and persistence that drives the scientific process and ultimately lead...
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Flavor Our World: Schwenksville, PA – Video
Flavor Our World: Schwenksville, PA
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