Page 1,288«..1020..1,2871,2881,2891,290..1,3001,310..»

Stem cell therapy gives dog new lease on life

Stem cell therapy has gone to the dogs. The technology aimed at giving ailing pets a new lease on life has arrived in Hawaii.

13-year-old Kumba is still a bit dazed, coming out of general anesthesia. The veterinarian at Surf Paws Animal Hospital just extracted about two tablespoons of fat tissue from the dog. Stem cells from that fat tissue will then be used to help him with his arthritis.

"Once we get the stem cells then we do some extra processing steps to wake them up so that they're very active. At the end of that, the veterinarian will inject the stem cells into the areas of damage," says Carol Spangler Vaughn of Medivet America.

A company called MediVet America is bringing the technology to animal hospitals in Hawaii. This is a first for Oahu. The company says the procedure works on other animals with different types of ailments.

"So the nice thing about this we're not gonna give you a puppy back but we'll give you some nice quality time with your animal. You won't have to put them down because of their arthritis," Vaughn said.

Kumba's arthritis had gotten worse in the past five years, and his owners were wondering whether it was best to end his life to stop him from suffering.

'When we start saying things like oh we don't know how much longer, poor Kumba, he must be in a lot of pain. That kind of stuff really hits home especially since he's been with us for so long," said Rumi Hospodar Kumba's owner.

But with this new procedure, they're counting on Kumba to be pain free in a few weeks and are looking forward to get backdoing some of the things Kumba enjoyed, like swimming.

"He can't do that now since his joints are so bad, and he's getting so old so that's one of the many things I'm looking forward to," Kelsea Hopsodar, his other owner said.

The cost of the procedure runs from 24 to 28 hundred dollars, and it's covered by most pet insurance policies.

Originally posted here:
Stem cell therapy gives dog new lease on life

Recommendation and review posted by Bethany Smith

Stem cell therapy in Hawaii going to the dogs

HAWAII KAI (HawaiiNewsNow) -

Cutting-edge technology is helping Hawaii's pets live better lives for months, even years. We were there as a beloved dog named Kumba received one of the first-ever, in-clinic stem cell therapy surgeries in the islands.

13 year old Kumba doesn't know he's a guinea pig. The Rottweiler-Lab mix is one of the first in Hawaii to undergo the stem cell procedure at Surf Paws in Hawaii Kai.

Kumba suffers severe arthritis in his hips and knees, doesn't eat much, and is even a bit depressed. "It's an effort for him to get up off the floor, and when he gets up and crosses the room, you can see the stiffness," says his owner, Rumi Hospodar.

Kumba's kids learn some of details of his surgery. Then, he's moved to a table and nods off from anesthesia. Once he's prepped, the procedure begins. The vet removes about two tablespoons of fat tissue from Kumba's shoulder. From there, the stem cells are separated from the fat and activated. Then, they're injected back into the affected areas.

The entire process takes four hours, but the dog is actually only under for about 20 minutes. Surf Paws used to send the tissue to the mainland for processing, but with technology from Medi-Vet America, they can do it all here.

"The patient had to be, you know, go home and come back a few days later and the timing was a little bit difficult. Now, everything is same day," says Surf Paws veterinarian Dr. Cristina Miliaresis.

Cost depends on the size of animal but can run up to $2,800. It's mainly done on dogs, cats, and horses who suffer osteoarthritis, hip dysplasia, ligament and cartilage damage, and other degenerative diseases. Their quality of life can improve within a couple of weeks.

Dr. Miliaresis says, "Some people might say, 'Oh, the dog's 13. Why are you doing this for a 13 year old dog? But even 6 months, pain-free, after a very, it's not simple, but it's a pretty straightforward procedure, to me (would be) just amazing."

The techs move all 97 pounds of Kumba to post-op - while his anxious owner looks on.

View original post here:
Stem cell therapy in Hawaii going to the dogs

Recommendation and review posted by Bethany Smith

Gene silencing improves Huntington's in animals; human tests next

A single injection of an experimental drug designed to silence the gene that produces the mutant huntingtin protein in Huntington's disease can provide long-lasting relief from the condition, studies in rats and monkeys show.

The infusion not only temporarily blocks production of the mutant protein, but also allows the body to clean up some of the huntingtin that has already accumulated, leading to a "huntingtin holiday" that can persist as long as nine months, UC San Diego researchers reported this week. The team hopes to begin human trials of the treatment within 18 months.

Huntington's is a genetic disorder caused by a mutant gene on chromosome 4. The gene produces a protein called huntingtin. Normally, a section of this gene is repeated 15 to 28 times, but in the mutant form, it is repeated as many as 150 times, leading to accumulation of an abnormal form of the huntingtin protein that destroys cells in the brain. The disease produces a broad variety of symptoms, including behavioral disturbances, paranoia, psychosis, movement disorders, dementia and, eventually, death. The disease affects an estimated 30,000 Americans and there is no cure or even an effective treatment.

Researchers have tried a variety of ways to suppress the production of mutant huntingtin. But such suppressive agents have to be injected directly into the brain and they have generally been shown to exert their effects only near the site of the injection.

Cell biologist Don W. Cleveland of UCSD's Ludwig Institute of Cancer Research and his colleagues have developed what is known as antisense DNA that binds to messenger RNA that is the blueprint for the mutant huntingtin protein. Messenger RNA, or mRNA, carries instructions from the cell's nuclear DNA to its protein-making machinery. The antisense DNA is complementary to the huntingtin mRNA and signals cellular enzymes to destroy it. The drug seems to spread through the brain far from the injection site.

The team reported in the journal Neuron that a single injection of the drug into mice with a model ofHuntington's diseaseproduced rapid results. Treated animals began moving better within a month and their movements were normal within two months. The improvements lasted as long as nine months, long after the drug has disappeared from their bodies and production of the mutant protein had resumed. Similar results were obtained in rhesus monkeys.

"For a disease like Huntington's, where a mutant protein product is tolerated for decades prior to disease onset, these findings open up the provocative possibility that transient treatment can lead to prolonged benefit for patients," Cleveland said in a statement. "This finding raises the prospect of a 'huntingtin holiday,' which may allow for disappearance of disease-causing species that might take weeks or months to re-form. If so, then a single application of a drug to reduce expression of a target gene could 'reset the disease clock,' providing a benefit long after huntingtin suppression has ended."

LATimesScience@gmail.com

Twitter/@LATMaugh

Follow this link:
Gene silencing improves Huntington's in animals; human tests next

Recommendation and review posted by Bethany Smith

Study Shows Most Commonly Mutated Gene in Cancer may have a Role in Stroke

Reported in CELL, Stony Brook pathologist uncovers new p53 mechanism triggering necrosis

Newswise STONY BROOK, N.Y., June 22, 2012 The gene p53 is the most commonly mutated gene in cancer. p53 is dubbed the guardian of the genome because it blocks cells with damaged DNA from propagating and eventually becoming cancerous. However, new research led by Ute M. Moll, M.D., Professor of Pathology at Stony Brook University School of Medicine, and colleagues, uncovers a novel role for p53 beyond cancer in the development of ischemic stroke. The research team identified an unexpected critical function of p53 in activating necrosis, an irreversible form of tissue death, triggered during oxidative stress and ischemia. The findings are detailed online in Cell.

Ischemia-associated oxidative damage leads to irreversible necrosis which is a major cause of catastrophic tissue loss. Elucidating its signaling mechanism is of paramount importance. p53 is a central cellular stress sensor that responds to multiple insults including oxidative stress and is known to orchestrate apoptotic and autophagic types of cell death. However, it was previously unknown whether p53 can also activate oxidative stress-induced necrosis, a regulated form of cell death that depends on the mitochondrial permeability transition pore (PTP) pore.

We identified an unexpected and critical function of p53 in activating necrosis: In response to oxidative stress in normal healthy cells, p53 accumulates in the mitochondrial matrix and triggers the opening of the PTP pore at the inner mitochondrial membrane, leading to collapse of the electrochemical gradient and cell necrosis, explains Dr. Moll.

"p53 acts via physical interaction with the critical PTP regulator Cyclophylin D (CypD). This p53 action occurs in cultured cells and in ischemic stroke in mice."

Of note, they found in their model that when the destructive p53-CypD complex is blocked from forming by using Cyclosporine-A type inhibitors, the brain tissue is strongly protected from necrosis and stroke is prevented.

The findings fundamentally expand our understanding of p53-mediated cell death networks, says Dr. Moll. The data also suggest that acute temporary blockade of the destructive p53-CypD complex with clinically well-tolerated Cyclosporine A-type inhibitors may lead to a therapeutic strategy to limit the extent of an ischemic stroke in patients.

p53 is one of the most important genes in cancer and by far the most studied, says Yusuf A. Hannun, M.D., Director of the Stony Brook University Cancer Center, Vice Dean for Cancer Medicine, and the Joel Kenny Professor of Medicine at Stony Brook. Therefore, this discovery by Dr. Moll and her colleagues in defining the mechanism of a new p53 function and its importance in necrotic injury and stoke is truly spectacular.

Dr. Moll has studied p53 for 20 years in her Stony Brook laboratory. Her research has led to numerous discoveries about the function of p53 and two related genes. For example, previous to this latest finding regarding p53 and stroke, Dr. Moll identified that p73, a cousin to p53, steps in as a tumor suppressor gene when p53 is lost and can stabilize the genome. She found that p73 plays a major developmental role in maintaining the neural stem cell pool during brain formation and adult learning. Her work also helped to identify that another p53 cousin, called p63, has a critical surveillance function in the male germ line and likely contributed to the evolution of humans and great apes, enabling their long reproductive periods.

Dr. Molls Cell study coauthors include: Angelina V. Vaseva and Natalie D. Marchenko, Department of Pathology, Stony Brook University School of Medicine; Kyungmin Ji and Stella E. Tsirka, Department of Pharmacological Sciences, Stony Brook University School of Medicine; and Sonja Holzmann, Department of Molecular Oncology, University of Gottingen in Germany.

Go here to read the rest:
Study Shows Most Commonly Mutated Gene in Cancer may have a Role in Stroke

Recommendation and review posted by Bethany Smith

Ethiopian Genetics Could Verify 'Queen of Sheba' Legend

June 22, 2012

UK researchers studying the genomes of Ethiopian people have discovered similarities to those of populations in Israel and Syria, proving genetic evidence that may support the tale of the legendary Queen of Sheba.

Ethiopians are described by representatives of the Wellcome Trust Sanger Institute, one of the organizations involved in the study, as one of the most genetically diverse cultures in the world. By studying their DNA, the researchers detected mixing from some Ethiopians and non-Africans dating back to approximately 3,000 years ago.

The origin and date of this genomic admixture, along with previous linguistic studies, is consistent with the legend of the Queen of Sheba, who according to the Ethiopian Kebra Nagast book had a child with King Solomon from Israel and is mentioned in both the Bible and the Quran, the Institute said in a press release.

As part of their work, which is detailed in the American Journal of Human Genetics, the scientists studied the DNA of more than 200 subjects from 10 Ethiopian and two neighboring African populations, Helen Briggs of BBC News reported on Thursday. Approximately one million genetic letters in each genome were analyzed in what is being called the largest Ethiopian-centered genetic investigation of its kind.

We found that some Ethiopians have 40 percent to 50 percent of their genome closer to the genomes of populations outside of Africa, while the remaining half of their genome is closer to populations within the African continent, study co-author Toomas Kivisild of the University of Cambridge said, according to HealthDay News reports. We calculated genetic distances and found that these non-African regions of the genome are closest to populations in Egypt, Israel and Syria, rather than to the neighboring Yemeni and Arabs.

Likewise, Dr. Chris Tyler-Smith of the Wellcome Trust Sanger Institute, co-lead author of the study, told Briggs, Genetics can tell us about historical events By analyzing the genetics of Ethiopia and several other regions we can see that there was gene flow into Ethiopia, probably from the Levant, around 3,000 years ago, and this fits perfectly with the story of the Queen of Sheba.

The experts did tell BBC News that there was some doubt regarding the absolute accuracy of the dating, and that there was a possible margin of error of a couple of hundred years plus or minus the 3,000 years estimate. They added that they plan to analyze all three billion genetic letters of the DNA contained within the genomes of individual Ethiopians in order discern more about the diversity and evolution of human genetics.

Our research gives insights into important evolutionary questions, Dr. Tyler-Smith said in a statement. We see imprints of historical events on top of much more ancient prehistoric ones that together create a region of rich culture and genetic diversity. The next step for our research has to be to sequence the entire genomes, rather than read individual letters, of both Ethiopian people and others to really understand human origins and the out-of-Africa migration.

Source: redOrbit Staff & Wire Reports

Originally posted here:
Ethiopian Genetics Could Verify 'Queen of Sheba' Legend

Recommendation and review posted by Bethany Smith

Study Shows Most Commonly Mutated Gene in Cancer may have a Role in Stroke

Reported in CELL, Stony Brook pathologist uncovers new p53 mechanism triggering necrosis

Newswise STONY BROOK, N.Y., June 22, 2012 The gene p53 is the most commonly mutated gene in cancer. p53 is dubbed the guardian of the genome because it blocks cells with damaged DNA from propagating and eventually becoming cancerous. However, new research led by Ute M. Moll, M.D., Professor of Pathology at Stony Brook University School of Medicine, and colleagues, uncovers a novel role for p53 beyond cancer in the development of ischemic stroke. The research team identified an unexpected critical function of p53 in activating necrosis, an irreversible form of tissue death, triggered during oxidative stress and ischemia. The findings are detailed online in Cell.

Ischemia-associated oxidative damage leads to irreversible necrosis which is a major cause of catastrophic tissue loss. Elucidating its signaling mechanism is of paramount importance. p53 is a central cellular stress sensor that responds to multiple insults including oxidative stress and is known to orchestrate apoptotic and autophagic types of cell death. However, it was previously unknown whether p53 can also activate oxidative stress-induced necrosis, a regulated form of cell death that depends on the mitochondrial permeability transition pore (PTP) pore.

We identified an unexpected and critical function of p53 in activating necrosis: In response to oxidative stress in normal healthy cells, p53 accumulates in the mitochondrial matrix and triggers the opening of the PTP pore at the inner mitochondrial membrane, leading to collapse of the electrochemical gradient and cell necrosis, explains Dr. Moll.

"p53 acts via physical interaction with the critical PTP regulator Cyclophylin D (CypD). This p53 action occurs in cultured cells and in ischemic stroke in mice."

Of note, they found in their model that when the destructive p53-CypD complex is blocked from forming by using Cyclosporine-A type inhibitors, the brain tissue is strongly protected from necrosis and stroke is prevented.

The findings fundamentally expand our understanding of p53-mediated cell death networks, says Dr. Moll. The data also suggest that acute temporary blockade of the destructive p53-CypD complex with clinically well-tolerated Cyclosporine A-type inhibitors may lead to a therapeutic strategy to limit the extent of an ischemic stroke in patients.

p53 is one of the most important genes in cancer and by far the most studied, says Yusuf A. Hannun, M.D., Director of the Stony Brook University Cancer Center, Vice Dean for Cancer Medicine, and the Joel Kenny Professor of Medicine at Stony Brook. Therefore, this discovery by Dr. Moll and her colleagues in defining the mechanism of a new p53 function and its importance in necrotic injury and stoke is truly spectacular.

Dr. Moll has studied p53 for 20 years in her Stony Brook laboratory. Her research has led to numerous discoveries about the function of p53 and two related genes. For example, previous to this latest finding regarding p53 and stroke, Dr. Moll identified that p73, a cousin to p53, steps in as a tumor suppressor gene when p53 is lost and can stabilize the genome. She found that p73 plays a major developmental role in maintaining the neural stem cell pool during brain formation and adult learning. Her work also helped to identify that another p53 cousin, called p63, has a critical surveillance function in the male germ line and likely contributed to the evolution of humans and great apes, enabling their long reproductive periods.

Dr. Molls Cell study coauthors include: Angelina V. Vaseva and Natalie D. Marchenko, Department of Pathology, Stony Brook University School of Medicine; Kyungmin Ji and Stella E. Tsirka, Department of Pharmacological Sciences, Stony Brook University School of Medicine; and Sonja Holzmann, Department of Molecular Oncology, University of Gottingen in Germany.

Excerpt from:
Study Shows Most Commonly Mutated Gene in Cancer may have a Role in Stroke

Recommendation and review posted by simmons

Notre Dame establishes professorships in adult stem cell research

Public release date: 22-Jun-2012 [ | E-mail | Share ]

Contact: William Gilroy gilroy.6@nd.edu 574-631-4127 University of Notre Dame

Alumnus Michael Gallagher and his wife, Elizabeth, have made a $5 million gift to establish the Elizabeth and Michael Gallagher Family Professorships in Adult Stem Cell Research at the University of Notre Dame.

Their gift, which will fund three new endowed professorships in adult and all forms of non-embryonic stem cell research, will strengthen Notre Dame's leadership in the field of stem cell research and enhance the University's effective dialogue between the biomedical research community and the Catholic Church on matters related to the use and application of stem cells and regenerative medicine.

"As a Catholic university, Notre Dame carries a mantle of responsibility to use our scholarship and resources to help alleviate human suffering, and, in this area of research in particular, to do so with deep respect for the sanctity of all human life," said Rev. John I. Jenkins, C.S.C., the University's president. "These new professorships will enable us to effectively build upon an already strong foundation in this critically important field. We are tremendously grateful to the Gallaghers for making this possible with their transformative gift."

Despite years of research, there are no known cures for a large number of degenerative diseases, such as Type 1 diabetes, Parkinson's disease, cardiovascular disease, macular degeneration and spinal cord injuries. Stem cell research has the potential to contribute to the discovery of new and successful treatments for these and other diseases because it holds the unique promise of regenerating damaged cells and tissues, fully restoring tissues and organs to their normal function.

Although this vital area of research could accelerate the ability to alleviate much human suffering, it has generated extensive ethical debate with the use of embryonic versus non-embryonic stem cells. The Catholic Church affirms the dignity of all human life at every stage and vigorously opposes the destruction of human embryos for the harvesting of stem cells. At the same time, the Church strongly endorses the use of adult and non-embryonic stem cell research as a potential therapy for individuals suffering from these debilitating diseases. Research has demonstrated that adult stem cells, including all forms of non-embryonic stem cells, such as induced pluripotent stem cells and umbilical cord stem cells, can be harvested and programmed to achieve pluripotency the same characteristic that enables embryonic stem cells to differentiate into any type of cell.

An urgent need exists to increase the number of faculty experts performing adult stem cell research at Notre Dame. Doing so will expand upon the strong foundation the College of Science holds in these areas and will help create an environment for excellence in which faculty and students can learn, grow, collaborate and ultimately affect human health.

"We are overwhelmed with gratitude at the generous gift from Mike and Liz Gallagher," said Gregory P. Crawford, dean of the College of Science. "The impact of this gift is truly beyond measure. It will play a crucial role in attracting three more of the best faculty in the field of adult stem cell research to Notre Dame. Furthermore, this gift will equip our existing talented group of adult stem cell researchers at Notre Dame to take the next great leap toward ultimately forming a premier center in adult stem cell research."

Michael Gallagher is a 1991 graduate of Notre Dame, and his wife, Elizabeth, is a 1992 graduate of Saint Mary's College. They have two sons, Brock and Jack, and currently live near Denver.

Visit link:
Notre Dame establishes professorships in adult stem cell research

Recommendation and review posted by simmons

Husband competes to raise awareness about bone-marrow registration

FOR THE PAST decade, two things have consumed large chunks of Malvern native Tom Kramer's time.

The first is his training regimen. Kramer, 46, is a practicing triathlete who will compete Saturday morning in the eighth annual Philadelphia Insurance Triathlon in Fairmount Park.

The second is the search for a bone-marrow match for his wife Pam, also a triathlete, who was diagnosed with a rare form of leukemia in 2000 and eventually willl need a bone marrow transplant.

At some point, Kramer made a creative decision to have those cumbersome obligations intersect. Desperate to spread the word about the importance of registering as a bone-marrow donor he estimates only 9 million people are registered Kramer embarked on a four-event quest over the span of 8 months to raise awareness.

"It was just me in the beginning," he said. "All I had was a banner and some testing kits."

Kramer completed a marathon, two Ironman half-triathlons and a full Ironman triathlon. Eventually his effort gained steam, finally culminating last year when the Kramers incorporated their hard work into the non-profit Racing to Register.

Using endurance sports as a platform, Racing to Register aims to enlarge the pool of potential donors for blood cancer patients in need of lifesaving bone marrow or stem cells.

"We think that the endurance part the reason we chose that platform is that you have to have a lot of endurance to go through that kind of treatment," Kramer said. "There is that marriage there if we can put ourselves through this, you can register."

Athletes that who join Team RTR complete the donor registration process and, in return, the program facilitates their endurance training through coaching, discounted gear and more.

While his wife's illness is what got him started, Kramer says the event has grown into something much bigger. With more than 2,100 registrants, RTR has produced four potential matches.

More:
Husband competes to raise awareness about bone-marrow registration

Recommendation and review posted by sam

Columbia Asia Referral Hospital, Yeshwantpur Announces a Comprehensive Bone Marrow Transplant Service

BANGALORE, June 22, 2012 /PRNewswire/ --

Adding an impetus to the already existing image of Bangalore being a healthcare destination of India, Columbia Asia Referral Hospital, Yeshwanthpur (CARHY), announced comprehensive bone marrow transplant (stem cell transplant) service on Thursday. This facility will give hope to many cancer patientsin and around Bangalore as there are very few hospitals in South India providing allogeneic transplant, which involves using stem cellsfrom a donor with a similar genetic makeup.

The bone marrow transplant (BMT) service will have a team of medical experts including clinical hematologist, oncologist, and other qualified doctors from allied specialties like pediatrics, infectious disease specialist and trained nurses for stem cell transplant, state-of-the-art HEPA filtered room, ICU, 24 hrs blood bank services and radiology services for providing comprehensive care during stem cell transplant.

Addressing the media, Dr. Nandakumar Jairam, Chairman and Group Medical Director, Columbia Asia Hospitals,said, "We are happy to announce allogenic bone marrow transplant service at our hospital in Yeshwanthpur, over and above the existing autologous transplant service. This will enhance comprehensive bone marrow transplant treatment delivery; a dire need for the people of Karnataka and neighbouring states. This will also help many international patients who look for such a treatment in India."

"This facility is dedicated to providing end-to-end services including expert counsel from a clinical hematologist and an entire team of doctors and nurses providing the latest in medical advances to those suffering from blood cancer and some non-cancerous conditions affecting thebone marrow," said Dr. Satish, Consultant in Clinical Hematology, Columbia Asia Hospitals.

"Bone marrow transplant, also called hematopoietic stem cell transplant (HSCT), is a treatment optionfor certain cancers. With this launch, Columbia Asia Referral Hospital Yeshwanthpur becomes one among the very few centers in India to offer allogeneic bone marrow transplants. Till now, we were doing only autologous transplants which involved the usage of the patient's own stem cells. Now, we will be able to manage conditions like high risk leukemia's, myelomas and lymphomas," said Dr Satish.

"Some of the most effective treatments for cancer such as chemotherapy and radiation are toxic to the bone marrow.The marrow produces different cells that make up the blood such as red blood cells, white blood cells and platelets. The stem cells from the bone marrow are extracted before the administration of high dose chemotherapy and then reintroduced or transplanted to the patient so that blood cell production process is re-established in the bone marrow," addedDr Neelesh Reddy, Consultant Medical Oncology, Columbia Asia Hospitals.

In fact earlier stem cells were collected only from the bone marrow in the hip bones under general anesthesia. However with advanced technology and medical supervision stem cells can now be collected from peripheral blood after giving injections. Stem cells are then harvested by simple procedure called apheresis, (in the same way as dialysis is done) and the rest of the blood is returned to the person.

Read this article:
Columbia Asia Referral Hospital, Yeshwantpur Announces a Comprehensive Bone Marrow Transplant Service

Recommendation and review posted by sam

Scientists grow tiny liver in mouse’s head

Using stem cells from human skin, Japanese scientists have grown a small human liver inside the skull of a mouse.

Hideki Taniguchi and Takanori Takebe from Yokohama City University used stem cells generated from human skin cells and developed them into percussor liver cells, the New Scientist reports.

Then they added other cells from umbilical cord blood vessels. The combination of cells then "guided itself" to form a small structure similar to liver tissue, Takebe said.

"We mixed and graded the cells onto the culture dish and they moved to form a cluster," he said. "It was a surprising outcome from what was, to be honest, an accident."

They implanted the structure into the head of a mouse, which was suffering from a severe genetic immune system disorder that prevented it from having an immune reaction to the foreign tissues.

The increased blood flow in the mouse's skull allowed the tissue to keep growing.

Within 48 hours, human blood vessels and human proteins formed. Glycogen and amino acids levels were the same as those of a human liver.

"It's not yet a perfect liver," Takebe said. "Improvements need to be made, such as the reconstruction of a bile duct."

The study could be significant for the field of regenerative medicine, but the researchers aren't yet sure whether the organ is a fully functioning liver, or whether they will be able to scale it to human size.

The findings were presented at the at the International Society for Stem Cell Research's annual meeting in Yokohama.

See the article here:
Scientists grow tiny liver in mouse's head

Recommendation and review posted by sam

Gentris, Shanghai Organization Partner to Push Along Personalized Medicine Initiatives

The Institute for Systems Biology has appointed Robert Lipshutz to be chief business officer and senior VP for strategic partnerships. Lipshutz spent nearly two decades at Affymetrix in various roles focusing on business development, licensing, diagnostics, and emerging markets, and most recently as senior VP for corporate development.

Verinata Health CEO Caren Mason has resigned but will continue to provide the company with consultative services. Mason joined Verinata in November 2010. She was previously the president and CEO of Quidel, president and CEO of MiraMedica, CEO of eMed Technologies, and general manager of GE Healthcare. The firm plans to recruit a new CEO.

Bruker has named Charles Wagner to be its new executive VP and chief financial officer, beginning at the end of June, Bruker said this week. Current CFO William Knight will continue to serve on the company's management team and will work with Wagner to ensure a smooth transition. Wagner also has stepped down from his positions on Bruker's board of directors and its audit committee, where he has served since 2010.

See the rest here:
Gentris, Shanghai Organization Partner to Push Along Personalized Medicine Initiatives

Recommendation and review posted by sam

Gentris Corporation Partners with the Shanghai Institutes of Preventative Medicine

MORRISVILLE, N.C., June 21, 2012 /PRNewswire/ -- Gentris Corporation (www.gentris.com), a global leader in the application of genomic biomarkers to clinical studies, announced today that it has signed a Memorandum of Understanding with the Shanghai Institutes of Preventative Medicine to advance global personalized medicine. The goal of this USA-China collaboration is to create translational research and epidemiological projects, as well as training and education programs, focused on pharmacogenomics and clinical sample banking, which will drive innovation in drug development and improvements in patient care.

Through this collaboration, Gentris and the Shanghai Institutes of Preventative Medicine will work together to launch cutting-edge research projects to discover, develop, and validate new genomic biomarkers. Gentris will take the lead to identify sponsors in the United States, e.g., pharmaceutical companies, for these personalized medicine projects while the Shanghai Institutes of Preventative Medicine will seek support from Chinese organizations.

The tuberculosis drug-induced liver injury pilot (TB DILI Study), conducted between Gentris, the Shanghai Institutes of Preventative Medicine, and a non-profit research institute in Research Triangle Park (RTP) serves as a model for USA-China collaborations. In this study, investigators designed a common protocol and pooled their resources to investigate DILI among tuberculosis patients in three Shanghai hospitals. By utilizing metabolomics and pharmacogenomics, they are evaluating biomarkers for early detection. Dr. Tong Zhou, Senior Director of China Initiatives for Gentris, is Co-Principal Investigator for the TB DILI Study and has significant experience in developing and managing collaborations between the United States and China. Dr. Zhou has also drawn upon his extensive network in China to begin establishing a satellite laboratory for Gentris in Shanghai that complies with U.S. regulatory standards.

Dr. Wu Fan, Director General of the Shanghai Institutes of Preventative Medicine and the Shanghai Municipal Center for Disease Control and Prevention (Shanghai CDC), and Dr. Howard McLeod from the University of North Carolina will provide strategic scientific oversight for personalized medicine collaborations. Director Wu is recognized internationally as a leader in public health initiatives. Dr. McLeod, Chief Scientific Advisor for Gentris, has been involved in numerous global initiatives including the Pharmacogenetics for Every Nation Initiative (PGENI), which he founded. It is anticipated that combining the resources and expertise of a research institute, academic institution, and industryin both the United States and Chinawill lead to more rapid improvements in drug development and public health.

For this personalized medicine program, research studies and epidemiological projects will be designed for implementation in Shanghai based on sponsor needs. Key targeted therapeutic areas include oncology, infectious disease, and chronic disease. Training and education initiatives will also be created to bring U.S. quality standards to China including GLP, GCP, CLIA, and CAP. Gentris, the Shanghai Institutes of Preventative Medicine, and their collaborators will work with leading experts to develop workshops, courses, and a fellowship program to educate academic and industry scientists in China regarding best practices in the application of pharmacogenomics for drug development.

The Memorandum of Understanding leverages the relationships that Gentris CEO Rick Williams and Dr. Zhou have built during the past few years between North Carolina and China. While assisting a non-profit research institute in RTP, they helped to create the North Carolina-China Global Bioscience Gateway, a public-private partnership that addresses how to enhance global research innovation. Mr. Williams and Dr. Zhou are also members of the N.C. China Advisory Council, which works with the N.C. Office of the Governor and N.C. Department of Commerce to facilitate economic development between the state and China.

One of the major goals for this new agreement between Gentris and the Shanghai Institutes of Preventative Medicine is to create an expanded network of collaborators among leading universities, pharmaceutical companies, and public health organizations that leads to new pharmacogenomics discoveries, which accelerate drug development and improve patient care globally.

Related Links: http://www.gentris.com, http://www.scdc.sh.cn

Quotes:

"I have worked with the Shanghai CDC and Shanghai Institutes of Preventative Medicine for nearly four years to develop a translational research bridge between our two countries. I'm honored that Gentris now has an opportunity to work even more closely with the Shanghai Institutes of Preventative Medicine," said Rick Williams, Gentris CEO. "Gentris will take the lead to identify U.S. sponsors in the pharmaceutical industry that would like to jointly develop new research, epidemiological, and training programs in Shanghai."

See more here:
Gentris Corporation Partners with the Shanghai Institutes of Preventative Medicine

Recommendation and review posted by sam

Stem cell therapy gives dog new lease on life

Stem cell therapy has gone to the dogs. The technology aimed at giving ailing pets a new lease on life has arrived in Hawaii.

13-year-old Kumba is still a bit dazed, coming out of general anesthesia. The veterinarian at Surf Paws Animal Hospital just extracted about two tablespoons of fat tissue from the dog. Stem cells from that fat tissue will then be used to help him with his arthritis.

"Once we get the stem cells then we do some extra processing steps to wake them up so that they're very active. At the end of that, the veterinarian will inject the stem cells into the areas of damage," says Carol Spangler Vaughn of Medivet America.

A company called MediVet America is bringing the technology to animal hospitals in Hawaii. This is a first for Oahu. The company says the procedure works on other animals with different types of ailments.

"So the nice thing about this we're not gonna give you a puppy back but we'll give you some nice quality time with your animal. You won't have to put them down because of their arthritis," Vaughn said.

Kumba's arthritis had gotten worse in the past five years, and his owners were wondering whether it was best to end his life to stop him from suffering.

'When we start saying things like oh we don't know how much longer, poor Kumba, he must be in a lot of pain. That kind of stuff really hits home especially since he's been with us for so long," said Rumi Hospodar Kumba's owner.

But with this new procedure, they're counting on Kumba to be pain free in a few weeks and are looking forward to get backdoing some of the things Kumba enjoyed, like swimming.

"He can't do that now since his joints are so bad, and he's getting so old so that's one of the many things I'm looking forward to," Kelsea Hopsodar, his other owner said.

The cost of the procedure runs from 24 to 28 hundred dollars, and it's covered by most pet insurance policies.

Follow this link:
Stem cell therapy gives dog new lease on life

Recommendation and review posted by simmons

Stem cell therapy in Hawaii going to the dogs

HAWAII KAI (HawaiiNewsNow) -

Cutting-edge technology is helping Hawaii's pets live better lives for months, even years. We were there as a beloved dog named Kumba received one of the first-ever, in-clinic stem cell therapy surgeries in the islands.

13 year old Kumba doesn't know he's a guinea pig. The Rottweiler-Lab mix is one of the first in Hawaii to undergo the stem cell procedure at Surf Paws in Hawaii Kai.

Kumba suffers severe arthritis in his hips and knees, doesn't eat much, and is even a bit depressed. "It's an effort for him to get up off the floor, and when he gets up and crosses the room, you can see the stiffness," says his owner, Rumi Hospodar.

Kumba's kids learn some of details of his surgery. Then, he's moved to a table and nods off from anesthesia. Once he's prepped, the procedure begins. The vet removes about two tablespoons of fat tissue from Kumba's shoulder. From there, the stem cells are separated from the fat and activated. Then, they're injected back into the affected areas.

The entire process takes four hours, but the dog is actually only under for about 20 minutes. Surf Paws used to send the tissue to the mainland for processing, but with technology from Medi-Vet America, they can do it all here.

"The patient had to be, you know, go home and come back a few days later and the timing was a little bit difficult. Now, everything is same day," says Surf Paws veterinarian Dr. Cristina Miliaresis.

Cost depends on the size of animal but can run up to $2,800. It's mainly done on dogs, cats, and horses who suffer osteoarthritis, hip dysplasia, ligament and cartilage damage, and other degenerative diseases. Their quality of life can improve within a couple of weeks.

Dr. Miliaresis says, "Some people might say, 'Oh, the dog's 13. Why are you doing this for a 13 year old dog? But even 6 months, pain-free, after a very, it's not simple, but it's a pretty straightforward procedure, to me (would be) just amazing."

The techs move all 97 pounds of Kumba to post-op - while his anxious owner looks on.

See original here:
Stem cell therapy in Hawaii going to the dogs

Recommendation and review posted by simmons

Stem Cells To Aid In Heart-Related Research

June 21, 2012

Connie K. Ho for redOrbit.com

Pumping vigorously night and day, the heart is clearly one of the most important organs in the human body. It is also one of the most delicate parts of the body. As such, news regarding heart-related diseases is beneficial to both doctors and patients. University of Michigan (UM) researchers recently reported the discovery of a new method that could produce cardiac muscle patches from stem cells.

The innovative process was created at UMs Center for Arrhythmia Research and effectively uses stem cells that can copy the hearts squeezing action. The cells showed activity that was like that of peoples resting heart rate. The rhythmic electrical impulse transmission of the engineered cells worked at a rate of 60 beats per minute and this rate was 10 times quicker than rates reported in other stem cell studies.

To date, the majority of studies using induced pluripotent stem cell-derived cardiac muscle cells have focused on single cell functional analysis, remarked senior author Dr. Todd J. Herron, an assistant research professor in the Departments of Internal Medicine and Molecular & Integrative Physiology at the U-M, in a prepared statement.

The researchers believe that the stem biology findings will be beneficial to those who suffer from common but life-threatening heart diseases. They hope that the use of stem cells will assist patients diagnosed with arrhythmia, which is found in approximately 2.5 million people. With arrhythmia, patients suffer an irregularity in the hearts electrical impulses and this can hinder the hearts ability to circulate blood.

For potential stem cell-based cardiac regeneration therapies for heart disease, however, it is critical to develop multi-cellular tissue like constructs that beat as a single unit, commented Herron in the statement.

Regarding the specifics of the project, the goal of the scientists was to use stem cells to develop skin biopsies. These biopsies could be used to produce large quantities of cardiac muscle cells, which could then help transmit uniform electrical impulses and work as a cohesive unit. In collaborating with researchers from the University of Oxford, Imperial College, and the University of Wisconsin, the team was able to design a fluorescent imaging platform. The platform used light emitting diode (LED) illumination to quantify the cells electrical activity.

Action potential and calcium wave impulse propagation trigger each normal heart beat, so it is imperative to record each parameter in bioengineered human cardiac patches, remarked Herron in the statement.

Overall, authors of the study believe that the velocity of the engineered cardiac cells is still slower than the velocity of cells found in the beating adult heart. However, the velocity of the engineered cardiac cells is quicker than those previously reported; it is also similar to the rate found in commonly used rodent cells. For future scientific research purposes, the investigators theorize that human cardiac patches could be utilized instead of rodent systems. The new method could be used in many cardiac research laboratories and allow cardiac stem cell patches to be utilized in disease research, new drug treatment testing, and therapies focused on repairing damaged heart muscles.

More:
Stem Cells To Aid In Heart-Related Research

Recommendation and review posted by Bethany Smith

Scientists Can Now Grow Functioning Liver From Stem Cells [Medicine]

Scientists have promised a lot of regenerative medicine will come from stem cells, but so far progress has been fairly slow: they can stimualte regrowth of heart tissue, make incredibly expesnive artifical blood, orat bestconstruct a short piece of vein. Now, though, scientists are claiming they can grow functional liver.

Nature reports that a team of scientists from Japan has presented its works at a conference, and it's incredible. In fact, George Daley, director of the stem-cell transplantation program at the Boston Children's Hospital in Massachusetts, told Nature that "it blew [his] mind." Wow.

The researchers used stem cells created from human skin cells, then placed the cells on growth plates in a specially designed culture medium. Over the course of nine days, the cells started producing chemicals that a typical liver cell, otherwise known as a hepatocyte, would produce. They then added endothelial and mesenchymal cellswhich form parts of blood vessels and other structural tissues within the bodyto the mix, in the hope that they would be incorporated and begin to help the cells develop a structure akin to the liver.

The result was amazing: two days later, the researchers found the cells assembled into a 5-millimeter-long, three-dimensional lump. That lump was almost identical to something known as a liver budan early stage of liver development. From Nature's report:

"The tissue lacks bile ducts, and the hepatocytes do not form neat plates as they do in a real liver. In that sense, while it does to some degree recapitulate embryonic growth, it does not match the process as faithfully as the optic cup recently reported by another Japanese researcher. But the tissue does have blood vessels that proved functional when it was transplanted under the skin of a mouse. Genetic tests show that the tissue expresses many of the genes expressed in real liver. And, when transferred to the mouse, the tissue was able to metabolize some drugs that human livers metabolize but mouse livers normally cannot. "

While it's not perfect, it's the first time anyone has successfully created part of a functional human organ from stem cells produced from human skin. If scientists hadn't quite managed to deliver on the promise of stem cells so far, they have now. [Nature]

Image by Spirit-Fire under Creative Commons license

See the rest here:
Scientists Can Now Grow Functioning Liver From Stem Cells [Medicine]

Recommendation and review posted by Bethany Smith

Scientists grow tiny liver in mouse's head

Using stem cells from human skin, Japanese scientists have grown a small human liver inside the skull of a mouse.

Hideki Taniguchi and Takanori Takebe from Yokohama City University used stem cells generated from human skin cells and developed them into percussor liver cells, the New Scientist reports.

Then they added other cells from umbilical cord blood vessels. The combination of cells then "guided itself" to form a small structure similar to liver tissue, Takebe said.

"We mixed and graded the cells onto the culture dish and they moved to form a cluster," he said. "It was a surprising outcome from what was, to be honest, an accident."

They implanted the structure into the head of a mouse, which was suffering from a severe genetic immune system disorder that prevented it from having an immune reaction to the foreign tissues.

The increased blood flow in the mouse's skull allowed the tissue to keep growing.

Within 48 hours, human blood vessels and human proteins formed. Glycogen and amino acids levels were the same as those of a human liver.

"It's not yet a perfect liver," Takebe said. "Improvements need to be made, such as the reconstruction of a bile duct."

The study could be significant for the field of regenerative medicine, but the researchers aren't yet sure whether the organ is a fully functioning liver, or whether they will be able to scale it to human size.

The findings were presented at the at the International Society for Stem Cell Research's annual meeting in Yokohama.

Read the original here:
Scientists grow tiny liver in mouse's head

Recommendation and review posted by Bethany Smith

Makucell Unveils Renewnt™, a Revolutionary, Science-driven Skin Care Brand

SCOTTSDALE, Ariz. & LOS ANGELES--(BUSINESS WIRE)--Makucell, Inc., a pioneering regenerative biotechnology company dedicated to the development, manufacture and distribution of non-prescription products formulated to address the impact of aging and photo-damaged skin unveils the Renewnt (pronounced Re-new-int) brand, a revolutionary science-driven product line. Renewnts proprietary ingredient, Asymmtate, is a new approach to cellular aging, optimizing signals in the Wnt (pronounced wint) pathway to energize the skins stem cells, encouraging youthful cell behavior. The result is younger-looking skin which appears firmer and smoother. This molecular process is the key to our proprietary technology developed at USCs Keck School of Medicine and transferred to Makucells Renewnt skin care line.

We conducted standard industry safety tests, and the results were universally positive; Renewnt products were well tolerated with no adverse effects or safety issues. A combination of clinical trials and in vitro gene expression studies from treated biopsied skin continues to corroborate the aesthetic effects noted in the clinic.

The Makucell Science

The bodys signals govern skin stem cells, controlling the decision to remain dormant, divide or differentiate (become normal, active tissue cells). Signals flow in pathways and multiple paths converge into one the Wnt pathway. Makucells proprietary molecule Asymmtate encourages optimal signaling in the Wnt pathway. Optimal signaling stimulates the skin stem cells to begin the process leading to keratinocytes, fibroblasts and other dermal cells which produce collagen, elastic tissue and substances in the supporting skin matrix. This essential regenerative process is the key differentiator in Makucells Renewnt skin care products.

Michael Kahn, Ph.D. and his team of gifted research scientists at the Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research of the Keck School of Medicine at the University of Southern California developed the revolutionary ingredient, Asymmtate, Makucells core technology. Dr. Mark V. Dahl, Makucell Chief Medical Officer and former President of the American Academy of Dermatology as well as Professor Emeritus at the Mayo Clinic in Arizona, developed the formulations designed to target a specific skin type on a particular area of the body. Makucell has tested all the Renewnt products for safety and efficacy. The products:

Makucell is committed to supporting our claims with results from controlled, blinded studies, explains Dr. Dahl. We conducted standard industry safety tests, and the results were universally positive; Renewnt products were well tolerated with no adverse effects or safety issues. A combination of clinical trials and in vitro gene expression studies from treated biopsied skin continues to corroborate the aesthetic effects noted in the clinic.

Dr. Lawrence Rheins, President and Chief Executive Officer of Makucell, commented, Renewnt delivers extraordinary regenerative ability in a hydrating cream, providing an advanced anti-aging option. Asymmtate in Renewnt wakes-up the skins stem cells which have become sluggish with age, to begin rebuilding the underlying supporting skin matrix. As a result, skin looks plumper and has a rejuvenated, youthful appearance.

Makucells current Renewnt skin care product line includes:

Renewnt for Hydration, a day and night facial moisturizer for a more youthful-looking appearance.

Renewnt for Strength, for the dry, thinning skin on hands and forearms to seal in moisture, repair the signs of aging and restore the essential skin barrier.

Read the original here:
Makucell Unveils Renewnt™, a Revolutionary, Science-driven Skin Care Brand

Recommendation and review posted by Bethany Smith

Gene Chandler – Please, Sunrise [1979] – Video

20-06-2012 21:05 NOTICE: "Copyright Disclaimer Under Section 107 of the Copyright Act 1976, allowance is made for "fair use" for purposes such as criticism, comment, news reporting, teaching, scholarship, and research. Fair use is a use permitted by copyright statute that might otherwise be infringing. Non-profit, educational or personal use tips the balance in favor of fair use."

View post:
Gene Chandler - Please, Sunrise [1979] - Video

Recommendation and review posted by Bethany Smith

AutDB 3 Tutorial – Video

21-06-2012 14:13 AutDB is the first publicly available genetic database for autism spectrum disorders. It includes all genes whose mutations have been associated or implicated with autism spectrum disorders, together with all risk-conferring candidates associated with these disorders. AutDB was designed with a systems biology approach, integrating data from diverse areas of autism research. At present, AutDB contains interactive modules that illuminate the molecular function of genes implicated in autism: Human Gene, which contains evidence for the association of genes with autism Animal Models, which describes the characteristics of animal models created from altering expression of these genes Protein Interactions (PIN), which compiles all known molecular interactions of proteins produced from these genes Copy Number Variants (CNV), which curates all known CNVs linked to autism To curate these database modules, our research team extracts data only from peer-reviewed, published scientific literature about autism. All of our annotators are scientific experts who hold advanced degrees in the biomedical sciences and formerly conducted laboratory research. They work together with our IT developers to optimize AutDB as a user-friendly tool for the autism research community. Our scientists continuously analyze current primary research articles so that AutDB serves as the most updated resource for autism candidate genes.

View post:
AutDB 3 Tutorial - Video

Recommendation and review posted by Bethany Smith

Functional toxicogenomics: from yeast to people – Video

21-06-2012 15:05 Speaker: Chris Vulpe, Associate Professor, Nutritional Sciences and Toxicology and Project Leader, Superfund Research Program University of California Berkeley See for more about Dr. Vulpe's laboratory. Research support by the Superfund Research Program of the National Institute of Environmental Health Sciences. People vary in their likelihood of developing disease after exposure to toxic chemicals. One reason is because they have different forms of genes. Professor Vulpe describes a novel approach to identify genes that could influence susceptibility to toxic chemicals in people. He uses yeast because they share fundamental cellular biology and metabolic pathways with people. This research identified a gene responsible for controlling cell proliferation resulting from benzene toxicity in yeast. Different forms of this gene could play a role in human susceptibility to benzene.

See the rest here:
Functional toxicogenomics: from yeast to people - Video

Recommendation and review posted by Bethany Smith

ExpressionBlast – a search engine for gene expression data – Video

21-06-2012 16:53 ExpressionBlast is a search engine for gene expression data that allow you to compare your own results to all other studies in GEO (Gene Expression Omnibus). This will allow you to find other studies with similar expression patterns and may provide you with insights and research directions for your own study. This video is just a quick general tutorial.

Original post:
ExpressionBlast - a search engine for gene expression data - Video

Recommendation and review posted by Bethany Smith

Toby Bradshaw, Target of Famous Arson, Hunts Elk, Praises Vegetarianism, and Defends Genetic Engineering

This week's cover story delves into the infamous University of Washington arson and the underground environmental movement it blew up. The 2001 arson, intended as a protest against genetic engineering, targeted a plant biologist named Toby Bradshaw--an interesting character in his own right.

He's a blunt, motorcycle-riding, 55-year-old contrarian who dismisses his attackers as "idiots" and, unlike some of his colleagues, seemed to emerge from the arson with his psyche in tact.

As if to thumb his nose at the enviro/animal rights crowd, he has outside his office a picture of a jokey billboard for a South Carolina restaurant. "There's plenty of room for all God's creatures," the billboard reads. "Right next to the mashed potatoes." Inside his office, the walls are decorated with the skulls of animals he's hunted in locations ranging from Idaho and Wyoming to Zimbabwe.

"That's where I get my meat," he says, pointing to the skull of an elk that weighed 600 or 700 pounds and kept him going for most of 2008. "I shoot it." He keeps 10 hawks at his house for his hunting trips, which have him disappearing into the Rocky Mountain wilderness for a week or two every fall and coming back with the makings of elk Teriyaki and antelope chili.

Yet, if you think that makes him the archetypal opposite of the vegan types who attacked him, think again. While far from vegan, he says that a vegetarian diet is, generally, better for the planet. He shoots much of the meat he eats precisely because he believes it's the only real responsible way to get the stuff. Like many vegetarians, he holds that commercial meat production is a waste of natural resources because animals are fed food that would be far more productively used feeding people.

On the topic of genetic engineering, though, Bradshaw couldn't be further apart from environmental activists.

Original post:
Toby Bradshaw, Target of Famous Arson, Hunts Elk, Praises Vegetarianism, and Defends Genetic Engineering

Recommendation and review posted by Bethany Smith

Functional links between autism and genes explained

ScienceDaily (June 21, 2012) A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any disease with a genetic component.

ASDs are a heterogeneous group of developmental conditions characterized by social deficits, difficulty communicating, and repetitive behaviors. ASDs are thought to be highly heritable, meaning that they run in families. However, the genetics of autism are complex.

Researchers have found rare changes in the number of copies of defined genetic regions that associate with ASD. Although there are some hot-spot regions containing these alterations, very few genetic changes are exactly alike. Similarly, no two autistic people share the exact same symptoms. To discover how these genetic changes might affect gene transcription and, thus, the presentation of the disorder, Rui Luo, a graduate student in the Geschwind lab at UCLA, studied 244 families in which one child (the proband) was affected with an ASD and one was not.

In addition to identifying several potential new regions where copy-number variants (CNVs) are associated with ASDs, Geschwind's team found genes within these regions to be significantly misregulated in ASD children compared with their unaffected siblings. "Strikingly, we observed a higher incidence of haploinsufficient genes in the rare CNVs in probands than in those of siblings, strongly indicating a functional impact of these CNVs on expression," says Geschwind. Haploinsuffiency occurs when only one copy of a gene is functional; the result is that the body cannot produce a normal amount of protein. The researchers also found a significant enrichment of misexpressed genes in neural-related pathways in ASD children. Previous research has found that these pathways include other genetic variants associated with autism, which Geschwind explains further legitimizes the present findings.

Share this story on Facebook, Twitter, and Google:

Other social bookmarking and sharing tools:

Story Source:

The above story is reprinted from materials provided by Cell Press, via EurekAlert!, a service of AAAS.

Note: Materials may be edited for content and length. For further information, please contact the source cited above.

Journal Reference:

Read the original:
Functional links between autism and genes explained

Recommendation and review posted by Bethany Smith

Study explains functional links between autism and genes

Public release date: 21-Jun-2012 [ | E-mail | Share ]

Contact: Mary Beth O'Leary moleary@cell.com 617-397-2802 Cell Press

A pioneering report of genome-wide gene expression in autism spectrum disorders (ASDs) finds genetic changes that help explain why one person has an ASD and another does not. The study, published by Cell Press on June 21 in The American Journal of Human Genetics, pinpoints ASD risk factors by comparing changes in gene expression with DNA mutation data in the same individuals. This innovative approach is likely to pave the way for future personalized medicine, not just for ASD but also for any disease with a genetic component.

ASDs are a heterogeneous group of developmental conditions characterized by social deficits, difficulty communicating, and repetitive behaviors. ASDs are thought to be highly heritable, meaning that they run in families. However, the genetics of autism are complex.

Researchers have found rare changes in the number of copies of defined genetic regions that associate with ASD. Although there are some hot-spot regions containing these alterations, very few genetic changes are exactly alike. Similarly, no two autistic people share the exact same symptoms. To discover how these genetic changes might affect gene transcription and, thus, the presentation of the disorder, Rui Luo, a graduate student in the Geschwind lab at UCLA, studied 244 families in which one child (the proband) was affected with an ASD and one was not.

In addition to identifying several potential new regions where copy-number variants (CNVs) are associated with ASDs, Geschwind's team found genes within these regions to be significantly misregulated in ASD children compared with their unaffected siblings. "Strikingly, we observed a higher incidence of haploinsufficient genes in the rare CNVs in probands than in those of siblings, strongly indicating a functional impact of these CNVs on expression," says Geschwind. Haploinsuffiency occurs when only one copy of a gene is functional; the result is that the body cannot produce a normal amount of protein. The researchers also found a significant enrichment of misexpressed genes in neural-related pathways in ASD children. Previous research has found that these pathways include other genetic variants associated with autism, which Geschwind explains further legitimizes the present findings.

###

Luo et al.: "Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders."

ABOUT THE AMERICAN JOURNAL OF HUMAN GENETICS

The American Journal of Human Genetics (AJHG) is ASHG's official scientific journal, published by Cell Press. AJHG is the most highly regarded peer-reviewed journal dedicated to studies in human genetics and earned an impact factor of 11.680 in 2011. AJHG provides cutting-edge research and review articles related to genetics and genomics and the application of genetic principles in health, disease, medicine, population studies, evolution, and societal impacts. For more information about AJHG, visit: http://www.ajhg.org.

See original here:
Study explains functional links between autism and genes

Recommendation and review posted by Bethany Smith


Archives