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Genetics, epigenetics and disease – Video


Genetics, epigenetics and disease
Royal Society GlaxoSmithKline Prize Lecture given by Professor Adrian Bird CBE FMedSci FRS on Tuesday 22 January 2013. Adrian Bird CBE FMedSci FRS is the Buchanan Chair of Genetics at the University of Edinburgh. The human genome sequence has been available for more than a decade, but its significance is still not fully understood. While most human genes have been identified, there is much to learn about the DNA signals that control them. This lecture described an unusually short DNA sequence, just two base pairs long, CG, which occurs in several chemically different forms. Defects in signalling by CG are implicated in disease. For example, the autism spectrum disorder Rett syndrome is caused by loss of a protein that reads methylated CG and affects the activity of genes. The Royal Society GlaxoSmithKline Prize Lecture is awarded for original contributions to medical and veterinary sciences published within ten years from the date of the award.

By: RoyalSociety

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Pancreatic Cancer Awareness Day – Genetics and Prevention – Video


Pancreatic Cancer Awareness Day - Genetics and Prevention
NewYork-Presbyterian #39;s 2012 Annual Pancreatic Cancer Awareness Day took place on November 3rd and featured a series of lectures by clinicians and patients. In this video, Fay Kastrinos, MD, a gastroenterologist at The Pancreas Center at NewYork-Presbyterian/Columbia University Medical Center, discusses the role genetics plays in helping doctors determine who is at greatest risk for pancreatic cancer. You can learn more about care for pancreatic cancer at NYP at nyp.org

By: newyorkpresbyterian

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Evolution, A Short Showcase for Evolution – Video


Evolution, A Short Showcase for Evolution
Evolution is the change in the inherited characteristics of biological populations over successive generations. Evolutionary processes give rise to diversity at every level of biological organisation, including species, individual organisms and molecules such as DNA and proteins. Life on Earth originated and then evolved from a universal common ancestor approximately 3.8 billion years ago. Repeated speciation and the divergence of life can be inferred from shared sets of biochemical and morphological traits, or by shared DNA sequences.[2] These homologous traits and sequences are more similar among species that share a more recent common ancestor, and can be used to reconstruct evolutionary histories, using both existing species and the fossil record. Existing patterns of biodiversity have been shaped both by speciation and by extinction. Charles Darwin and Alfred Wallace were the first to formulate a scientific argument for the theory of evolution by means of natural selection. Evolution by natural selection is a process that is inferred from three facts about populations: 1) more offspring are produced than can possibly survive, 2) traits vary among individuals, leading to different rates of survival and reproduction, and 3) trait differences are heritable. Thus, when members of a population die they are replaced by the progeny of parents that were better adapted to survive and reproduce in the environment in which natural selection took place. This process creates and ...

By: Cynthia Yildirim

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Evolution, A Short Showcase for Evolution - Video

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Mind-Altering Microbes: How the Microbiome Affects Brain and Behavior: Elaine Hsiao at TEDxCaltech – Video


Mind-Altering Microbes: How the Microbiome Affects Brain and Behavior: Elaine Hsiao at TEDxCaltech
Elaine Hsiao is a postdoctoral fellow in chemistry and biology at Caltech. She received her undergraduate degree in microbiology, immunology and molecular genetics from UCLA and her doctoral degree in neurobiology from Caltech with Professor Paul Patterson. She studied neuroimmune mechanisms underlying the pathogenesis of neurodevelopmental disorders and uncovered a role for the commensal microbiota in regulating autism-related behaviors, metabolism, and intestinal physiology. Elaine has received several honors, including predoctoral fellowships from the National Institute of Health, Autism Speaks and the Caltech Innovation Program. She is currently studying the mechanisms by which microbes modulate host production of neuroactive molecules and aims to better understand how the human microbiota influences health and disease. In thespirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TEDx event, TEDTalks video and live speakers combine to spark deep discussion and connection in a small group. These local, self-organized events are branded TEDx, where x = independently organized TED event. The TED Conference provides general guidance for the TEDx program, but individual TEDx events are self-organized.* (*Subject to certain rules and regulations) On January 18, 2013, Caltech hosted TEDxCaltech: The Brain, a forward-looking celebration of humankind #39;s quest to understand the brain, by ...

By: TEDxTalks

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Mind-Altering Microbes: How the Microbiome Affects Brain and Behavior: Elaine Hsiao at TEDxCaltech - Video

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George Church on Singularity 1 on 1: Inactivity and Complacency Are The Most Dangerous Ideas – Video


George Church on Singularity 1 on 1: Inactivity and Complacency Are The Most Dangerous Ideas
http://www.singularityweblog.com Dr. "George Church is one of the most brilliant scientists in the world," says Steven Pinker on the front cover of Regenesis: How Synthetic Biology Will Reinvent Nature and Ourselves. Regenesis is the recent book that Church wrote together with Ed Regis, where the authors "imagine a future in which human beings have become immune to all viruses, in which bacteria can custom-produce everyday items, like a drinking cup, or generate enough electricity or biofuel to end oil dependency. Building a house would entail no more work than planting a seed in the ground..." These are just few low-hanging fruits that the tree of synthetic biology may provide for us. So why is it that some scared pundits are calling it "the most dangerous idea"?!... During my Singularity 1 on 1 interview with George Church we discuss the above plus a variety of other topics such as: how he got interested in genetics and why he considers himself more of a technologist and inter-disciplinarian; the synthetic biology revolution of the past few years (beating Moore #39;s Law by a factor of 6); his views on religion; his dyslexia, high cholesterol and other mutations; 23andMe and DNA testing in general; the difference between genetics and synthetic biology; transhumanism, faith, mirror organisms and mirror humans; intellectual property rights and patenting living organisms; genomics and longevity... My two favorite quotes from Dr. Church are: "Inactivity and complacency are the most ...

By: Nikola Danaylov

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George Church on Singularity 1 on 1: Inactivity and Complacency Are The Most Dangerous Ideas - Video

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A Map of the Brain: Allan Jones at TEDxCaltech – Video


A Map of the Brain: Allan Jones at TEDxCaltech
Allan Jones joined the Allen Institute in 2003 to help start up the organization as one of its first employees. Bringing extensive expertise in project leadership and high-throughput genomics operations from prior management positions at Merck and Co., Rosetta Inpharmatics and Avitech Diagnostics, Allan was instrumental in recruiting an integrated interdisciplinary team, building the Institute #39;s scientific operations from the ground up and successfully driving the Allen Mouse Brain Atlas to completion in 2006. He provided strategic leadership and vision through the expansion of the Institute #39;s portfolio of large-scale, high-impact initiatives from the mouse brain atlas through to work on the human brain. Allan has broad scientific experience in genetics, molecular biology and development. He holds a BS degree in biology from Duke University and a Ph.D. in genetics and developmental biology from Washington University School of Medicine in St. Louis. In thespirit of ideas worth spreading, TEDx is a program of local, self-organized events that bring people together to share a TED-like experience. At a TEDx event, TEDTalks video and live speakers combine to spark deep discussion and connection in a small group. These local, self-organized events are branded TEDx, where x = independently organized TED event. The TED Conference provides general guidance for the TEDx program, but individual TEDx events are self-organized.* (*Subject to certain rules and regulations) On January ...

By: TEDxTalks

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The Protecto Suit – Video


The Protecto Suit
Genetics project 2013 Busbin Brandon, Lauren and Caroline

By: Lauren Carter

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The Protecto Suit - Video

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Do You Have Fat Genes? Genetics, Health, Nutrition


Do You Have Fat Genes? Genetics, Health, Nutrition Weight Loss | The Truth Talks
Friend us!! http://www.Facebook.com Do You Have Fat Genes? Genetics, Health Weight Loss | The Truth Talks Psychetruth News Correspondent interviews Dr. Vincent Bellonzi, DC, CCN about the Health Care and Medical System in America, is it really the most cost-effective approach? Learn about Dr. Bellonzi #39;s new book: Health Recklessly Abandoned http://www.recklesshealth.com Visit Dr. Bellonzi #39;s website at http Related Videos: Is Being Fat Genetic? Does a Fat Gene make us overweight or obese? Psychetruth Nutrition http://www.youtube.com Why You Can #39;t Lose Weight, Fat Set Point?! How to Win at Weight Loss | PsycheTruth Nutrition http://www.youtube.com US Health Care: Win, Fail or Scam? Truth About Medical System in America, | The Truth Talks http://www.youtube.com Diet Truth: Low Fat, High Carb Diets? Weight Loss How To | Corrina Psychetruth Nutrition Info http://www.youtube.com The Truth about Diet and Weight Loss http://www.youtube.com Featuring Corrina Rachel http://www.corrinarachel.com http http://www.Facebook.com This video was produced by Psychetruth http://www.psychetruth.net http http://www.psychetruth.blogspot.com http http://www.twitter.com http://www.myspace.com http://www.pinterest.com © Copyright 2013 Target Public Media, LLC. All Rights Reserved. Do You Have Fat Genes? Genetics, Health Weight Gain | The Truth Talks fat, gene, fat gene, genes, weight, genetics, weight loss, weight gain, the truth talks, the truth, Corrina, Corrina Rachel, psychetruth, nutrition, Bellonzi, nutrition, how to, lose weight, austin wellness, doctor, dr., truth about, information

By: psychetruth

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Genetics Society of America's Genetics journal highlights for February 2013

Public release date: 8-Feb-2013 [ | E-mail | Share ]

Contact: Phyllis Edelman pedelman@genetics-gsa.org 301-634-7302 Genetics Society of America

Bethesda, MDFebruary 8, 2013 Listed below are the selected highlights for the February 2013 issue of the Genetics Society of America's journal, Genetics. The February issue is available online at http://www.genetics.org/content/current. Please credit Genetics, Vol. 193, February 2013, Copyright 2013.

Please feel free to forward to colleagues who may be interested in these articles on population and evolutionary genetics; gene expression; genome and systems biology; and methods, technology and resources.

ISSUE HIGHLIGHTS

Population and Evolutionary Genetics Patterns of transcriptome divergence in the male accessory gland of two closely related species of field crickets, pp. 501-513 Jose A. Andrs, Erica L. Larson, Steven M. Bogdanowicz, and Richard G. Harrison

What kinds of genetic changes are responsible for the origin of species? What forces drive evolution of "speciation genes"? Answers to these fundamental questions may be found by examining patterns of genomic differentiation between closely related species. The authors have compared transcriptomes of two field crickets to identify candidate gene regions that contribute to reproductive isolation and to assess the role of selection in divergence of genes encoding seminal fluid proteins.

Methods, Technology and Resources Captured segment exchange: A strategy for custom engineering large genomic regions in Drosophila melanogaster, pp. 421-430 Jack R. Bateman, Michael F. Palopoli, Sarah T. Dale, Jennifer E. Stauffer, Anita L. Shah, Justine E. Johnson, Conor W. Walsh, Hanna Flaten ,and Christine M. Parsons and Long-range targeted manipulation of the Drosophila genome by site-specific integration and recombinational resolution, pp. 411-419 Natalia Wesolowska and Yikang S. Rong

This issue of Genetics features two articles that describe significant improvements in the Drosophila genetic toolbox (see Commentary by Crown and Sekelsky). Wesolowska and Rong describe an approach for targeted manipulation of the genome that promises to render all Drosophila genes amenable to systematic targeted mutagenesis. Bateman et al. offer a novel approach for swapping large segments of the genome with engineered DNA, permitting custom alterations to any genomic region. And last month Staller and Perrimon and colleagues presented a powerful, simple method for depleting gene function in early embryos with short hairpin RNAs.

Population and Evolutionary Genetics Evolutionary rate covariation in meiotic proteins results from fluctuating evolutionary pressure in yeasts and mammals, pp. 529-538 Nathan L. Clark, Eric Alani, and Charles F. Aquadro

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Gene Therapy Mesothelioma Uk – Video


Gene Therapy Mesothelioma Uk

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Gene Therapy Mesothelioma Uk - Video

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A Tiny Story of Gene Expression: Part II – Video


A Tiny Story of Gene Expression: Part II
This is the second part of a short animation series on Sickle Cell Anemia, dedicated to kids who want to learn more about the role genes have in the body. While Part I explained the process of transcription and translation and the enormous impact that a single gene mutation can have on the body, Part II explains how gene therapy could be used to cure such a mutation... Click here for Part I: http://www.youtube.com © Juliette Rogasik 2013 MORE INFO: Gene Therapy: http://www.ornl.gov ghr.nlm.nih.gov Curing Sickle Cell: news.nationalgeographic.co.uk http://www.sciencedaily.com http://www.eurekalert.org http://www.sciencedaily.com

By: Juliette Rogasik

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Diabetes in dogs cured using single gene therapy

Washington, February 8 (ANI): For the first time, it has been that it is possible to cure diabetes in large animals with a single session of gene therapy.

Researchers from the Universitat Autonoma de Barcelona (UAB), led by Fatima Bosch, found that after a single gene therapy session, the dogs recover their health and no longer show symptoms of the disease. In some cases, monitoring continued for over four years, with no recurrence of symptoms.

The therapy is minimally invasive. It consists of a single session of various injections in the animal's rear legs using simple needles that are commonly used in cosmetic treatments. These injections introduce gene therapy vectors, with a dual objective: to express the insulin gene, on the one hand, and that of glucokinase, on the other.

Glucokinase is an enzyme that regulates the uptake of glucose from the blood. When both genes act simultaneously they function as a "glucose sensor", which automatically regulates the uptake of glucose from the blood, thus reducing diabetic hyperglycemia (the excess of blood sugar associated with the disease).

"This study is the first to demonstrate a long-term cure for diabetes in a large animal model using gene therapy," said Fatima Bosch, the head researcher.

This same research group had already tested this type of therapy on mice, but the excellent results obtained for the first time with large animals lays the foundations for the clinical translation of this gene therapy approach to veterinary medicine and eventually to diabetic patients.

The study provides ample data showing the safety of gene therapy mediated by adeno-associated vectors (AAV) in diabetic dogs. The therapy has proved to be safe and efficacious: it is based on the transfer of two genes to the muscle of adult animals using a new generation of very safe vectors known as adeno-associated vectors.

These vectors, derived from non-pathogenic viruses, are widely used in gene therapy and have been successful in treating several diseases.

In fact, the first gene therapy medicine ever approved by the European Medicines Agency, named Glybera, makes use of adeno-associated vectors to treat a metabolic disease caused by a deficiency of lipoprotein lipase and the resulting accumulation of triglycerides in the blood.

Dogs treated with a single administration of gene therapy showed good glucose control at all times, both when fasting and when fed, improving on that of dogs given daily insulin injections, and with no episodes of hypoglycemia, even after exercise.

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Stem Cell Therapy Testimonial – Arthritis Treatment (full version) – Video


Stem Cell Therapy Testimonial - Arthritis Treatment (full version)
Stem Cell Therapy Testimonial - Arthritis Treatment (full version) 1-888-545-4333

By: Bofitmiami

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Stem Cell Therapy Testimonial – Arthritis Treatment (Short Version) – Video


Stem Cell Therapy Testimonial - Arthritis Treatment (Short Version)
Stem Cell Therapy Testimonial - Arthritis Treatment (Short Version) 1-888-545-4333

By: Bofitmiami

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Stem Cell Therapy Testimonial - Arthritis Treatment (Short Version) - Video

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ARM 2013 Regenerative Medicine Analyst Outlook – Video


ARM 2013 Regenerative Medicine Analyst Outlook
This panel following the RM State of the Industry Briefing on January 8, 2013, featured expert healthcare buy side and sell side analysts focusing on regenerative medicine and other advanced therapies, and discussed the outlook for the sector from the investor #39;s perspective. Panelists Included: Keith Murphy, Vice Chairman, Alliance for Regenerative Medicine; Chairman CEO, Organovo (moderator) Steve Brozak, President, WBB Securities Jason Kolbert, SVP Biotechnology Research, Maxim Group Jason Napodano, Managing Director Senior Biotech Analyst, Zacks Small Cap Research

By: AllianceRegenMed

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Researchers stumble upon new gene with Delhi hospital’s input

Third major gene-of-effect in hyperekplexia, GLRB, discovered

Quick to realise that a two-year-old girl admitted with them for problem of seizures and for getting started on touch was suffering from hyperekplexia and not epilepsy, the doctors at Sir Ganga Ram Hospital here sent her samples for further study abroad and these have now become part of a path-breaking research that has led to the discovery of a new gene.

The events that led to it

As per senior consultant in the Department of Genetics at SGRH, Dr. Ratna Dua Puri, when the child was brought in, the clinical diagnosis had led them to confirm hyperekplexia. The genetics of this disorder is known and can be inherited. We sent her samples, along with our findings, for a molecular analysis to a research group which was working on the genetics of this disease. At that time four years ago, there were only two known genes for it and we did not have mutation in the known genes. However, as it turned out, this child had a unique disorder and similarly around nine other patients across the world had similar mutations which led the research group to identify a change and the new gene is now called GLRB, says Dr. Puri.

Rare disorder

Stating that this was a rare disorder in which the child used to get startled at even a small touch, Dr. Puri said it can run in families and can occur again. So, she said, the discovery of the new gene offers greater hope of better treatment to such patients.

The patient, who is now six, was prescribed medication and her condition has improved with it. But she still has episode trips and we are confident that our work would lead to better understanding of her disorder and its treatment, Dr. Puri adds.

Research on in premier institutes

As per the research, GLRB is the third major gene-of-effect in hyperekplexia. The main research in the subject has been done by a group of premier medical institutes while the corresponding author is Dr. Seo-Kyung Chung of Institute of Life Sciences College of Medicine, Swansea University, United Kingdom.

Hyperekplexia is a severe paroxysmal neuromotor disorder that typically presents soon after birth or in the first week of life. It involves exaggerated startle response upon tactile or auditory stimulus.

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Gene mutation linked to aortic valve disease discovered

A large international study has identified a gene mutation that increases the risk of developing a common and potentially fatal condition called aortic valve disease.

The work pinpoints a mutation on a gene responsible for the production of a type of cholesterol known as lipoprotein(a) or Lp(a).

The lead author, Dr. George Thanassoulis of McGill University in Montreal, says the mutation is found in about 13 per cent of people of European descent.

It occurs to a lesser degree in people of African-American and Hispanic ethnicity, but is barely seen in people of Chinese-American ancestry.

Thanassoulis says researchers were able to show that the mutation was the number one genetic risk factor for the disease, and that it was the circulating Lp(a) in the blood that was causing the valve disease in the people studied.

About a million people in North America suffer from aortic stenosis, which is the hardening of the valve through which blood leaves the heart.

People with the condition develop shortness of breath and angina, and can go on to have heart attacks.

There is currently no remedy, except surgery to replace the valve. But by the time the condition is spotted, patients are typically elderly and may be in too weak a state to undergo the operation.

Statin drugs used to lower bad cholesterol don't work against Lp(a), says Thanassoulis. And modifying one's diet or increasing one's level of exercise also don't help prevent development of aortic stenosis.

"We prevent heart attacks, we prevent other things in cardiovascular medicine but we don't prevent valve disease," he says.

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Gene mutation linked to aortic valve disease discovered

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Gene silencing spurs fountain of youth in mouse brain

Feb. 7, 2013 Cognitive decline in old age is linked to decreasing production of new neurons. Scientists from the German Cancer Research Center have discovered in mice that significantly more neurons are generated in the brains of older animals if a signaling molecule called Dickkopf-1 is turned off. In tests for spatial orientation and memory, mice in advanced adult age whose Dickkopf gene had been silenced reached an equal mental performance as young animals.

The hippocampus -- a structure of the brain whose shape resembles that of a seahorse -- is also called the "gateway" to memory. This is where information is stored and retrieved. Its performance relies on new neurons being continually formed in the hippocampus over the entire lifetime. "However, in old age, production of new neurons dramatically decreases. This is considered to be among the causes of declining memory and learning ability," Prof. Dr. Ana Martin-Villalba, a neuroscientist, explains.

Martin-Villalba, who heads a research department at the German Cancer Research Center (DKFZ), and her team are trying to find the molecular causes for this decrease in new neuron production (neurogenesis). Neural stem cells in the hippocampus are responsible for continuous supply of new neurons. Specific molecules in the immediate environment of these stem cells determine their fate: They may remain dormant, renew themselves, or differentiate into one of two types of specialized brain cells, astrocytes or neurons. One of these factors is the Wnt signaling molecule, which promotes the formation of young neurons. However, its molecular counterpart, called Dickkopf-1, can prevent this.

"We find considerably more Dickkopf-1 protein in the brains of older mice than in those of young animals. We therefore suspected this signaling molecule to be responsible for the fact that hardly any young neurons are generated any more in old age." The scientists tested their assumption in mice whose Dickkopf-1 gene is permanently silenced. Professor Christof Niehrs had developed these animals at DKFZ. The term "Dickkopf" (from German "dick" = thick, "Kopf" = head) also goes back to Niehrs, who had found in 1998 that this signaling molecule regulates head development during embryogenesis.

Martin-Villalba's team discovered that stem cells in the hippocampus of Dickkopf knockout mice renew themselves more often and generate significantly more young neurons. The difference was particularly obvious in two-year old mice: In the knockout mice of this age, the researchers counted 80 percent more young neurons than in control animals of the same age. Moreover, the newly formed cells in the adult Dickkopf-1 mutant mice matured into potent neurons with multiple branches. In contrast, neurons in control animals of the same age were found to be more rudimentary already.

Blocking Dickkopf improves spatial orientation and memory

Several years ago, Ana Martin-Villalba had shown that mice lose their spatial orientation when neurogenesis in the hippocampus is blocked. Now, is it possible that the young neurons in Dickkopf-deficient mice improve the animals' cognitive performance? The DKFZ researchers used standardized tests to study how the mice orient themselves in a maze. While in the control animals, the younger ones (3 months) performed much better in orienting themselves than the older ones (18 months), the Dickkopf-1-deficient mice showed no age-related decline in spatial orientation capabilities. Older Dickkopf-1 mutant mice also outperformed normal animals in tests determining spatial memory.

"Our result proves that Dickkopf-1 promotes age-related decline of specific cognitive abilities," says Ana Martin-Villalba. "Although we had expected silencing of Dickkopf-1 to improve spatial orientation and memory of adult mice, we were surprised and impressed that animals in advanced adult age actually reach the performance levels of young animals."

These results give rise to the question whether the function of Dickkopf-1 may be turned off using drugs. Antibodies blocking the Dickkopf protein are already being tested in clinical trials for treating a completely different condition. "It is fascinating to speculate that such a substance may also slow down age-related cognitive decline. But this is still a dream of the future, since we have only just started first experiments in mice to explore this question."

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Experimental gene therapy treatment for Duchenne muscular dystrophy offers hope for youngster

Public release date: 7-Feb-2013 [ | E-mail | Share ]

Contact: Charles Casey charles.casey@ucdmc.ucdavis.edu 916-734-9048 University of California - Davis Health System

Jacob Rutt is a bright 11-year-old who likes to draw detailed maps in his spare time. But the budding geographer has a hard time with physical skills most children take for granted -- running and climbing trees are beyond him, and even walking can be difficult. He was diagnosed with a form of muscular dystrophy known as Duchenne when he was two years old.

The disease affects about 1 in 3,500 newborns -- mostly boys -- worldwide. It usually becomes apparent in early childhood, as weakened skeletal muscles cause delays in milestones such as sitting and walking. Children usually become wheelchair-dependent during their teens. As heart muscle is increasingly affected, the disease becomes life threatening and many patients die from heart failure in their 20s.

Today, Jacob is one of 51 children participating in a nationwide clinical trial for a new type treatment that could offer help to those suffering from devastating neuromuscular disease. Clinical researchers at UC Davis Medical Center and a handful other research centers around the nation are testing a high-tech drug designed to fix the underlying genetic defect causing the progressive muscular decline that is seen in children with Duchenne.

"This type of genetic therapy is the most exciting treatment approach I have witnessed in my career for Duchenne muscular dystrophy," said Craig McDonald, professor and chair of the Department of Physical Medicine Rehabilitation at UC Davis, as well as principal investigator of the national clinical trial that Jacob is participating in. "We are hopeful that it will delay many of the disease's manifestations and ultimately improve life expectancy for patients."

Duchenne muscular dystrophy is caused by genetic mutations in the gene for the muscle protein dystrophin. The protein is a stabilizer that protects muscle fibers; without enough functional dystrophin, muscles become damaged, causing them to weaken and deteriorate over time.

Functioning a bit like a bridge over a dangerous chasm, the experimental drug known as drisapersen is designed to effectively cover over the specific genetic mutation, allowing the problem area to be skipped and causing cells to produce a slightly shorter but functional dystrophin protein.

Because Duchenne muscular dystrophy is rare and the drug addresses only a small subset of the genetic variants responsible for the disease, recruiting qualified patients was not easy. Of the medical centers involved in the study, UC Davis, with its highly regarded neuromuscular disease and physical medicine and rehabilitation expertise, enrolled the largest group of patients in the nation. For more than a year, its eight young participants, including Jacob, have been to Sacramento from as far away as Colorado, Utah and Arizona. For each participant, the clinical trial involved weekly injections, which meant Jacob had to fly from Southern California to the UC Davis clinic every Friday for 24 weeks.

"I've never seen such a complicated study in terms of logistics," said Erica Goude, who serves as the research coordinator at the UC Davis site. "We're collaborating closely with departments of pediatrics, cardiology, radiology and several others, and their outstanding commitment to the project has made our tasks much easier and more efficient. This study is an amazing team effort that I see frequently reflected in the smiles of our patients and their families."

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Experimental gene therapy treatment for Duchenne muscular dystrophy offers hope for youngster

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Stefan Kappe: Creating an Attenuated Live Malaria Vaccine – Video


Stefan Kappe: Creating an Attenuated Live Malaria Vaccine
Stefan Kappe of Seattle BioMed in the US, one of the original Grand Challenges in Global Health grantees, has used genetic engineering to develop an attenuated live malaria vaccine candidate for testing in clinical trials. Learn more about this project and the impact that Grand Challenges in Global Health funding had on the research timeline.

By: GCGHMeetings

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Stefan Kappe: Creating an Attenuated Live Malaria Vaccine - Video

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New Space — preview issue of groundbreaking journal launched at FAA Commercial Space Conference

Public release date: 6-Feb-2013 [ | E-mail | Share ]

Contact: Vicki Cohn vcohn@liebertpub.com 914-740-2100 x2156 Mary Ann Liebert, Inc./Genetic Engineering News

New Rochelle, NY, February 6, 2013Mary Ann Liebert, Inc., publishers announces the preview issue of New Space, the only international peer-reviewed journal dedicated to space innovation and entrepreneurship. This groundbreaking publication facilitates the emerging multidisciplinary opportunities for space-based collaborations of industry, academia, and government agencies. The Journal will be available in print and online. The articles are available online on the New Space website.

Featuring world-class content that covers innovative and expanding applications at the intersection of space science, engineering, policy, and business, this innovative journal encourages the growth of rapidly expanding enterprises and products that will advance knowledge, benefit society, and improve the way we live. New Space is the forum in which innovative applications of emerging space-based technologies and initiatives will be discovered, identified, discussed, and applied. New Space will publish leading-edge research in all engineering, business, policy, and technology disciplines required to support and advance the new epoch of international space endeavors including commercial cargo and crew services, tourism, colonization, deep space research, and resource utilization in both the private and public sectors.

This preview issue features a powerful opening editorial by New Space Editor-in-Chief Scott Hubbard, a Roundtable discussion of the future of private space enterprise with Hubbard and panelists Steve Isakowitz (Virgin Galactic), Professor John Logsdon, PhD (The George Washington University), James R. (Russ) McMurry (The Boeing Company), George Nield, PhD (Federal Aviation Administration), Marcia S. Smith, (Space and Technology Policy Group, LLC), and New Space Associate Editor Ken Davidian (Federal Aviation Administration). The issue also includes an original article on "The B612 Foundation Sentinel Space Telescope" by Edward T. Lu (B612 Foundation), Harold Reitsema (B612 Foundation), John Troeltzsch (Ball Aerospace Corporation), and Professor Hubbard on the mission to find and track asteroids which could impact Earth.

New Space Editor-in-Chief Scott Hubbard is the Professor of Aeronautics and Astronautics at Stanford University, an expert on the emerging entrepreneurial space industry, and Director of the Stanford Center of Excellence for Commercial Space Transportation (COE CST). Professor Hubbard has been engaged in space-related research as well as program, project, and executive management for more than 35 years including 20 years with NASA, culminating as Director of NASA's Ames Research Center. Currently on the SpaceX Safety Advisory Panel, he previously served as the sole NASA representative on the Columbia Accident Investigation Board, was NASA's first Mars program director and successfully restructured the entire Mars program in the wake of mission failures. His book entitled "Exploring Mars: Chronicles from a Decade of Discovery," describes his work on NASA's Mars Program. Dr. Hubbard is the founder of NASA's Astrobiology Institute, conceived the Mars Pathfinder mission with its airbag landing, and was the manager for NASA's highly successful Lunar Prospector Mission. Dr. Hubbard has received many honors including NASA's highest award, the Distinguished Service Medal.

"This powerful new journal will provide a much-needed multidisciplinary forum on the rapidly advancing engineering, business approach, and technological developments in this important field that contains great potential for benefit to humanity and our world," says Professor Hubbard.

In addition to peer-reviewed manuscripts, New Space will publish interviews with leading innovators, roundtable discussions with experts in a variety of fields, point-counter-point discussions, and briefs describing lab demonstrations and field trials.

Company founder and CEO Mary Ann Liebert comments, "New Space has a unique multidisciplinary mandate and an ability to respond with alacrity as this field moves forward. Under the leadership of Professor Hubbard, this journal will play an important role in the advancement of space technology and exploration that will benefit all countries."

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Genetic screening in Metro Vancouver helps target lung cancer treatment

Asian women with late-stage lung cancer in Metro Vancouver are now routinely tested for a genetic mutation that can improve their treatment.

Its a made-in-B.C. adaptation of international genetic research that has found a high proportion of Asian women with lung cancer have never smoked. They carry a particular genetic makeup that drives tumour growth yet also responds to a line of drugs called tyrosine kinase inhibitors, or TKIs.

The treatment wont eradicate cancer, but can prolong lives, said Dr. Barbara Melosky, a researcher at the BC Cancer Agency and professor of medicine at the University of British Columbia.

People have been talking about targeted therapy for 10 years, but we actually found one that works very well with lung cancer.

Although we cannot cure these patients, many of them live years, rather than months.

About 10 to 20 per cent of all lung cancer patients carry a mutated epidermal growth factor receptor gene that speeds tumour growth. That number rises to about 40 per cent among all East Asians with non-small-cell lung cancer, the most common type. Among non-smoking East Asian women from China, Japan, Taiwan and Korea, it rises to between 60 and 80 per cent.

There were 268 new lung cancer diagnoses in the Vancouver Coastal Health region in 2009 the year for which most recent statistics are available. Asian women who never smoked could account for up to 20 per cent of those cases, Melosky estimates.

Smoking is the primary cause of lung cancer.

Previously, TKI medication was given to all cancer patients in the hopes of slowing its spread, but targeting patients through genetic testing is proving to be more effective, says Melosky.

The BC Cancer Agency was an early research location for this testing and the province one of the first to introduce screening in 2011, she added.

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Genetic screening in Metro Vancouver helps target lung cancer treatment

Recommendation and review posted by Bethany Smith

Study finds genetic basis of aortic valve disease, may point to possible therapy

TORONTO - A large international study has identified a gene mutation that increases the risk of developing a common and potentially fatal condition called aortic valve disease.

The work pinpoints a mutation on a gene responsible for the production of a type of cholesterol known as lipoprotein(a) or Lp(a).

The lead author, Dr. George Thanassoulis of McGill University in Montreal, says the mutation is found in about 13 per cent of people of European descent.

It occurs to a lesser degree in people of African-American and Hispanic ethnicity, but is barely seen in people of Chinese-American ancestry.

Thanassoulis says researchers were able to show that the mutation was the number one genetic risk factor for the disease, and that it was the circulating Lp(a) in the blood that was causing the valve disease in the people studied.

About a million people in North America suffer from aortic stenosis, which is the hardening of the valve through which blood leaves the heart.

People with the condition develop shortness of breath and angina, and can go on to have heart attacks.

There is currently no remedy, except surgery to replace the valve. But by the time the condition is spotted, patients are typically elderly and may be in too weak a state to undergo the operation.

Statin drugs used to lower bad cholesterol don't work against Lp(a), says Thanassoulis. And modifying one's diet or increasing one's level of exercise also don't help prevent development of aortic stenosis.

"We prevent heart attacks, we prevent other things in cardiovascular medicine but we don't prevent valve disease," he says.

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Study finds genetic basis of aortic valve disease, may point to possible therapy

Recommendation and review posted by Bethany Smith

Study finds genetic cause for common heart ailment

A genetic variation doubles the risk of developing calcium deposits in the heart, a common condition that, in severe cases, can narrow or block the aorta, according to a study published Wednesday.

The genetic variation, found in seven percent of the population, provides important clues about how to treat the disease, researchers said in the study published in the New England Journal of Medicine.

"This is an important step forward in understanding the biology of the development of aortic stenosis," said senior author Wendy Post, from the Johns Hopkins University School of Medicine.

She added that the latest findings could lead to the development of targeted medications to slow the progression of the disease, which can cause chest pain and shortness of breath, and can in some cases require surgery.

The gene in question is involved in the production of a type of cholesterol particle called lipoprotein (a), which circulates in the blood.

"Increased levels of lipoprotein (a) have been previously associated with aortic valve disease. However, prior studies could not differentiate whether it was simply a marker or a causal factor," said lead author Catherine Campbell, of Kaiser Permanente.

"Our results provide the first evidence for a causal relationship," she added.

The researchers studied 2.5 million gene variants among more than 6,900 people of white European heritage, and they found that the particular variant was strongly associated with the aortic calcium deposits.

The scientists then confirmed the link in studies with three other groups -- more than 2,000 people of Hispanic origin, about 2,500 African-Americans, and more than 700 Germans.

They also demonstrated that the gene variant was linked to a future risk of developing the heart condition, using data from nearly 40,000 people in Sweden and Denmark.

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Study finds genetic cause for common heart ailment

Recommendation and review posted by Bethany Smith

Genetic cause for common heart ailment

A GENETIC variation doubles the risk of developing calcium deposits in the heart, a common condition that, in severe cases, can narrow or block the aorta.

The genetic variation, found in seven per cent of the population, provides important clues about how to treat the disease, researchers said in a study published on Wednesday in the New England Journal of Medicine.

"This is an important step forward in understanding the biology of the development of aortic stenosis," said senior author Wendy Post, from the US Johns Hopkins University School of Medicine.

She added that the latest findings could lead to the development of targeted medications to slow the progression of the disease, which can cause chest pain and shortness of breath, and can in some cases require surgery.

The gene in question is involved in the production of a type of cholesterol particle called lipoprotein (a), which circulates in the blood.

"Increased levels of lipoprotein (a) have been previously associated with aortic valve disease. However, prior studies could not differentiate whether it was simply a marker or a causal factor," said lead author Catherine Campbell, of Kaiser Permanente.

"Our results provide the first evidence for a causal relationship," she added.

The researchers studied 2.5 million gene variants among more than 6,900 people of white European heritage, and they found that the particular variant was strongly associated with the aortic calcium deposits.

The scientists then confirmed the link in studies with three other groups -- more than 2,000 people of Hispanic origin, about 2,500 African-Americans, and more than 700 Germans.

They also demonstrated that the gene variant was linked to a future risk of developing the heart condition, using data from nearly 40,000 people in Sweden and Denmark.

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Genetic cause for common heart ailment

Recommendation and review posted by Bethany Smith


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