Worlds First Gene Therapy Trial To Cure Deafness - Nov 2014
DENVER - A local man is a making medical history. Rob Gerk is the first person in the world to receive gene therapy to restore his hearing. "It was very inte...

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Worlds First Gene Therapy Trial To Cure Deafness - Nov 2014 - Video

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MIAMI (PRWEB) January 14, 2015

Citing fast-paced growth and the need for more space to accommodate its expanding operations, Global Stem Cells Group CEO Benito Novas has announced plans to move the organizations headquarters from Sunrise, Florida to the Miami Lakes Corporate Center. The new location more than doubles the space for the international stem cell and regenerative medicine company's corporate offices.

Since opening in 2012 under the Regenestem brand, Global Stem Cells Group and its six operating companies have grown exponentially, establishing partnerships with stem cell clinics, hospitals, researchers and physicians in the Philippines, South America and Europe.

The new Global Stem Cells Group facility provides state-of-the-art space for our entire team to drive innovation through our research and development initiatives, and support partnering activities with our biotechnology products and education programs, Novas says. We now have the space to continue the fast-paced growth of our companies and advance the development of new stem cell and regenerative medicine technologies that will benefit patients worldwide.

The new corporate headquarters, scheduled to open January 15, 2015, are located in the Miami Lakes Corporate Center, 14750 NW 77th Court, Suite 304 Miami Lakes, FL 33016.

For more information visit the Global Stem Cells website, email bnovas(at)regenestem(dot)com, or call 305-224-1858.

About the Global Stem Cells Group:

Global Stem Cells Group, Inc. is the parent company of six wholly owned operating companies dedicated entirely to stem cell research, training, products and solutions. Founded in 2012, the company combines dedicated researchers, physician and patient educators and solution providers with the shared goal of meeting the growing worldwide need for leading edge stem cell treatments and solutions.

With a singular focus on this exciting new area of medical research, Global Stem Cells Group and its subsidiaries are uniquely positioned to become global leaders in cellular medicine.

Global Stem Cells Groups corporate mission is to make the promise of stem cell medicine a reality for patients around the world. With each of GSCGs six operating companies focused on a separate research-based mission, the result is a global network of state-of-the-art stem cell treatments.

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Winnipeg researcher Doug Broeska previously ran a lumber business. (REGENETEK.COM)

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Regenetek is located on Chevrier Boulevard, but its stem-cell study is being conducted at a hospital in India. The study is not listed on any clinical-trial registry. (PHIL HOSSACK / WINNIPEG FREE PRESS )

The hope of dancing at her sons summertime wedding led Sharon Nordstrom to pay $38,000 for a treatment she hoped would keep her multiple-sclerosis symptoms at bay.

That money paid for what she hoped would be a life-changing stem-cell procedure at a hospital in Pune, India. It was part of what she, and nearly 70 other patients from Manitoba and from as far away as Australia, believed was a clinical study helmed by a brilliant Winnipeg medical researcher with a PhD, who said the procedure could stop MS in its tracks.

Soon after her return in May, Nordstrom began to uncover troubling facts. Doug Broeska, whom patients reverently call "Dr. Doug," has no recognized medical credentials. Regenetek Research, his company based out of a spartan office on Chevrier Boulevard, boasted credentials and positive medical results that didnt add up. Patients who were once ardent supporters were attacked as saboteurs or shills for "Big Pharma" and threatened with removal from the study after they asked questions.

A Free Press investigation has found Broeska fabricated his credentials, including his PhD, and overstated the effects of the stem-cell treatment, for which he often charged desperately ill people $45,000. Four patients spoke to the Free Press on the record, saying they got no benefit from the treatment, got none of the followup common in clinical trials such as MRIs or physical acuity tests and believe they are victims of fraud.

Patients, doctors in India and now Canadian officials are questioning the claims of Winnipeg researcher Doug Broeska and his $45,000 stem-cell therapy for MS sufferers.

At least two of Regeneteks former patients have complained to the RCMP, and sources say the Canada Revenue Agency is investigating, though CRA officials would not confirm that. Last week, Regeneteks website, Broeskas LinkedIn page and a "patient-run" Facebook group were taken down.

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City man who ran stem-cell trial for MS patients fabricated credentials, overstated treatment results

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Blake - Spinal Cord Injury
Blake #39;s video testimonial after his first series of 40 hyperbaric oxygen therapy treatments.

By: HyperbaricHealing1

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Blake - Spinal Cord Injury - Video

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What is regenerative medicine? - prof. Graziella Pellegrini

By: Bio-Tech Media

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What is regenerative medicine? - prof. Graziella Pellegrini - Video

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Newswise January 13, 2015 New York, NY Peter S. Kim has been named the Virginia and D.K. Ludwig Professor of Biochemistry at Stanford University School of Medicine. Established in 1994, Ludwig professorships have since been awarded to a total of 15 leading scientists at academic institutions affiliated with the six U.S.-based Ludwig Centers. With this appointment Kim also becomes a member of the Ludwig Center for Cancer Stem Cell Research and Medicine at Stanford.

Kims lab focuses on the mechanisms by which viral membranes fuse with cell membranes, which has to happen for the virus to invade its target cell. His team also studies how that process might be disrupted by small molecules and antibodies. Kims lab is, for example, using such studies to engineer antigens for a vaccine that might elicit antibodies that block a key step in HIVs invasion of its target cell. The strategies that he is developing could be applied to design new preventive and therapeutic vaccines for cancers. His lab is also developing methods to identify small molecules that bind tightly and very specifically to proteins that have so far proved resistant to targeting by typical drug-like molecules.

Kim joined Stanford University in February 2014 after a ten-year tenure as president of Merck Research Laboratories, Merck & Co., Inc. During this time he oversaw the development and FDA approval of Gardasil, the worlds first vaccine against HPV, the causative agent of cervical cancer. Kim began his academic career as a professor in the biology department at MIT, where he ultimately served as associate head. During his 16 years at MIT Kim was also an investigator of the Howard Hughes Medical Institute and a member of the Whitehead Institute for Biomedical Research.

We are very happy, and fortunate, to have Peter Kim back here at Stanford, where he began his graduate training, said Irv Weissman, director of the Ludwig Center for Cancer Stem Cell Research and Medicine at Stanford. Peter brings with him rare experience and new strategies for developing preventive tools and therapiesincluding immunotherapiesfor viral infections that cause, allow and/or infect cancers. His goals are in line with our mission, and his approaches complement our own efforts to recruit the immune system to attack cancer cells.

Kim has received numerous awards for his research and holds leadership positions at several academic and scientific institutions. He is a member of the National Academy of Sciences and the Institute of Medicine and a fellow of the American Academy of Arts and Sciences. He serves on the Scientific Review Board of the Howard Hughes Medical Institute, the External Scientific Advisory Board of the Harvard Program in Therapeutic Science, the Board of Scientific Governors of the Scripps Research Institute and the Scientific Advisory Working Group of the Vaccine Research Center, NIAID, NIH.

Kim joins four other Virginia and D.K. Ludwig Professors at Stanford: Lucy Shapiro, Irving Weissman, Sanjiv Sam Gambhir and Roeland Nusse.

# # #

About Ludwig Cancer Research Ludwig Cancer Research is an international collaborative network of acclaimed scientists that has pioneered cancer discoveries for more than 40 years. Ludwig combines basic research with the ability to translate its discoveries and conduct clinical trials to accelerate the development of new cancer diagnostics and therapies. Since 1971, Ludwig has invested more than $2.5 billion in life-changing cancer research through the not-for-profit Ludwig Institute for Cancer Research and the six U.S.-based Ludwig Centers.

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Discovery paves way for new approaches for population with highest incidence and mortality rates from this kind of cancer

Case Comprehensive Cancer Center researchers have identified new gene mutations unique to colon cancers in African Americans - the population with the highest incidence and death rates of any group for this disease.

This discovery - namely, that colorectal cancers appear different on a molecular level in African Americans - offers new hope for these patients. With this groundbreaking knowledge, scientists now will seek to develop treatments that target the distinct nature of the disease in African Americans - and, they hope, begin to reduce the devastation disproportionately wrought on this population.

The findings, published in the Jan. 12 edition of PNAS (Proceedings of the National Academy of Sciences), only became possible because of technological advances in gene sequencing and computational analysis. The study that revealed this invaluable information ultimately involved review of 1.5 billion bits of data.

"This milestone study builds on our previous genetic research on colorectal cancer," said Sanford Markowitz, MD, PhD, corresponding author on the study, and principal investigator of the $11.3 million federal gastrointestinal cancers research program (GI SPORE) that includes this project. "It illustrates the extraordinary impact that dedicated, collaborative teams can make when they combine scientific experience and ingenuity with significant investment."

Announced in 2011, this GI SPORE program is one of just five in the country. Markowitz, Ingalls Professor of Cancer Genetics at Case Western Reserve School of Medicine and a medical oncologist at University Hospitals Case Medical Center, included studies of the disease's behavior in minority patients as part of his team's original grant application. The disparity between colorectal cancer rates in African Americans and other groups has long existed; the most recent federal statistics, for example, put age-adjusted incidence at 46.8 cases for every 100,000 African Americans, and 38.1 cases for every 100,000 Caucasian Americans. Yet scientists have struggled to determine what factors - biological, economic, environmental, or others - account for this disparity.

"These advancements underscore the importance of university-based research," said Congresswoman Marcia L. Fudge, former chair of the Congressional Black Caucus and representative of the 11th district, which includes Case Western Reserve and UH Case Medical Center. "I am proud that researchers from Northeast Ohio are taking meaningful steps toward identifying pathways to block a devastating disease that disproportionately affects members of the African American community."

From the very start, Markowitz and his colleagues believed the answer to this question would be found through genetic analysis.

"Identifying gene mutations has been the basis of all the new drugs that have been developed to treat cancer in the last decade," Markowitz said. "Many of the new cancer drugs on the market today were developed to target specific genes in which mutations were discovered to cause specific cancers."

One of the lead researchers on the project was senior author Joseph E. Willis, MD, associate professor of pathology, Case Western Reserve School of Medicine, director of tissue management, Case Comprehensive Cancer Center, and Vice Chair of Pathology for Clinical Affairs at UH Case Medical Center.

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Newswise Case Comprehensive Cancer Center researchers have identified new gene mutations unique to colon cancers in African Americans the population with the highest incidence and death rates of any group for this disease.

This discovery namely, that colorectal cancers appear different on a molecular level in African Americans offers new hope for these patients. With this groundbreaking knowledge, scientists now will seek to develop treatments that target the distinct nature of the disease in African Americans and, they hope, begin to reduce the devastation disproportionately wrought on this population.

The findings, published in the Jan. 12 edition of PNAS (Proceedings of the National Academy of Sciences), only became possible because of technological advances in gene sequencing and computational analysis. The study that revealed this invaluable information ultimately involved review of 1.5 billion bits of data.

This milestone study builds on our previous genetic research on colorectal cancer, said Sanford Markowitz, MD, PhD, corresponding author on the study, and principal investigator of the $11.3 million federal gastrointestinal cancers research program (GI SPORE) that includes this project. It illustrates the extraordinary impact that dedicated, collaborative teams can make when they combine scientific experience and ingenuity with significant investment.

Announced in 2011, this GI SPORE program is one of just five in the country. Markowitz, Ingalls Professor of Cancer Genetics at Case Western Reserve School of Medicine and a medical oncologist at University Hospitals Case Medical Center, included studies of the diseases behavior in minority patients as part of his teams original grant application. The disparity between colorectal cancer rates in African Americans and other groups has long existed; the most recent federal statistics, for example, put age-adjusted incidence at 46.8 cases for every 100,000 African Americans, and 38.1 cases for every 100,000 Caucasian Americans. Yet scientists have struggled to determine what factors biological, economic, environmental, or others account for this disparity.

These advancements underscore the importance of university-based research, said Congresswoman Marcia L. Fudge, former chair of the Congressional Black Caucus and representative of the 11th district, which includes Case Western Reserve and UH Case Medical Center. I am proud that researchers from Northeast Ohio are taking meaningful steps toward identifying pathways to block a devastating disease that disproportionately affects members of the African American community.

From the very start, Markowitz and his colleagues believed the answer to this question would be found through genetic analysis.

Identifying gene mutations has been the basis of all the new drugs that have been developed to treat cancer in the last decade, Markowitz said. Many of the new cancer drugs on the market today were developed to target specific genes in which mutations were discovered to cause specific cancers.

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Researchers Identify New Gene Mutations Linked to Colorectal Cancer in African American Patients

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IMAGE:BioResearch Open Access is a bimonthly peer-reviewed open access journal led by Editor-in-Chief Robert Lanza, MD, Chief Scientific Officer, Advanced Cell Technology, Inc. and Editor Jane Taylor, PhD. The Journal... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, January 12, 2014--A promising new therapeutic approach to treat a variety of diseases involves taking a patient's own cells, turning them into stem cells, and then deriving targeted cell types such as muscle or nerve cells to return to the patient to repair damaged tissues and organs. But the clinical effectiveness of these stem cells has only been modest, which may be due to the advanced age of the patients or the effects of chronic diseases such as diabetes and cardiovascular disease, according to a probing Review article published in BioResearch Open Access, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers . The article is available on the BioResearch Open Access website.

Anastasia Yu. Efimenko, TN Kochegura, ZA Akopyan, and YV Parfyonova, Moscow State University (Russia), analyze how aging and chronic diseases might affect the regenerative potential of autologous stem cells and explain the differences between the promising results reported in preclinical studies using stem cells derived from healthy young donors and the more modest success of clinical studies in aged patients. The authors propose strategies to test for and enhance to regenerative properties and therapeutic potential of stem cells in the article "Autologous Stem Cell Therapy: How Aging and Chronic Diseases Affect Stem and Progenitor Cells".

"This review discusses a very important issue in regenerative medicine, how aging and chronic pathologies such as cardiovascular diseases and metabolic disorders affect adult stem/progenitor cells," says BioResearch Open Access Editor Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland. "Future therapies are discussed by the authors in terms of overcoming or correcting the limitations of these cells in order to enhance their therapeutic potential."

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About the Journal

BioResearch Open Access is a bimonthly peer-reviewed open access journal led by Editor-in-Chief Robert Lanza, MD, Chief Scientific Officer, Advanced Cell Technology, Inc. and Editor Jane Taylor, PhD. The Journal provides a new rapid-publication forum for a broad range of scientific topics including molecular and cellular biology, tissue engineering and biomaterials, bioengineering, regenerative medicine, stem cells, gene therapy, systems biology, genetics, biochemistry, virology, microbiology, and neuroscience. All articles are published within 4 weeks of acceptance and are fully open access and posted on PubMed Central. All journal content is available on the BioResearch Open Access website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many areas of science and biomedical research, including DNA and Cell Biology, Tissue Engineering, Stem Cells and Development, Human Gene Therapy, HGT Methods, and HGT Clinical Development, and AIDS Research and Human Retroviruses. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Is stem cell therapy less effective in older patients with chronic diseases?

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IMAGE:The Journal of Interferon & Cytokine Research (JICR), led by Co-Editors-in-Chief Ganes C. Sen, PhD, Chairman, Department of Molecular Genetics, Cleveland Clinic Foundation, and Thomas A. Hamilton, PhD, Chairman, Department... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, January 13, 2015--Emerging data on the role of inflammation and the immune system in the development, growth, and spread of breast tumors have focused increased attention on the role cytokines such as interleukin and transforming growth factor- play in breast cancer initiation, protection, and metastasis. A comprehensive overview of this new knowledge and its potential to lead to novel therapeutic approaches is presented in a Review article in Journal of Interferon & Cytokine Research (JICR) from Mary Ann Liebert, Inc., publishers . The article is available free on the JICR website until February 13, 2015.

"The Role of Cytokines in Breast Cancer Development and Progression", coauthored by Marcella Esquivel-Velzquez and colleagues from Universidad Nacional Autnoma de Mxico (Mxico City) and Instituto Nacional de Salud Pblica (Morelos, Mexico), reviews the latest evidence to support a regulatory role for cytokines (proteins that mediate communication between cells of the immune system) in breast cancer and other cancer-related disorders. The article explores the link between cytokines, inflammation, and obesity, which is a significant risk factor for breast cancer. Other topics include the association between cytokines and blood vessel formation, breast cancer metastasis, immunosuppression and the ability of breast cancer cells to evade the immune system, and the potential role of cytokines as prognostic factors.

"This article provides a thorough discussion of the impact of inflammation and cytokine biology on many aspects of breast cancer and can serve as a helpful resource to find specific details regarding mechanisms and therapeutic potential," says Journal of Interferon & Cytokine Research Co-Editor-in-Chief Thomas A. Hamilton, PhD, Chairman, Department of Immunology, Cleveland Clinic Foundation.

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About the Journal

Journal of Interferon & Cytokine Research (JICR) , led by Co-Editors-in-Chief Ganes C. Sen, PhD, Chairman, Department of Molecular Genetics, Cleveland Clinic Foundation, and Thomas A. Hamilton, PhD, Chairman, Department of Immunology, Cleveland Clinic Foundation, is an authoritative peer-reviewed journal published monthly online with Open Access options and in print that covers all aspects of interferons and cytokines from basic science to clinical applications. Journal of Interferon & Cytokine Research is an official journal of the International Cytokine & Interferon Society. Complete tables of content and a sample issue may be viewed on the JICR website.

About the Publisher

Mary Ann Liebert, Inc., publishers is a privately held, fully integrated media company known for establishing authoritative peer-reviewed journals in many promising areas of science and biomedical research, including Viral Immunology, AIDS Research and Human Retroviruses, and DNA and Cell Biology. Its biotechnology trade magazine, Genetic Engineering & Biotechnology News (GEN), was the first in its field and is today the industry's most widely read publication worldwide. A complete list of the firm's 80 journals, books, and newsmagazines is available on the Mary Ann Liebert, Inc., publishers website.

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Do cytokines have a role in the initiation and progression of breast cancer?

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IMAGE:AIDS Research and Human Retroviruses, published monthly in print and online, presents papers, reviews, and case studies documenting the latest developments and research advances in the molecular biology of HIV... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, January 13, 2014--A cure for HIV/AIDS is the ultimate goal of rapidly advancing research involving diverse and innovative approaches. A comprehensive collection of articles describing the broad scope and current status of this global effort is published in a special issue of AIDS Research and Human Retroviruses, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers . The Special Issue on HIV Cure Research is available free on the AIDS Research and Human Retroviruses website.

In the Commentary "How to Cure AIDS: Feeling the Elephant", Guest Editor David Margolis, MD, University of North Carolina at Chapel Hill, states, "The breadth and diversity of reports found in the issue reflect the many domains of investigation that must be brought to bear to solve challenges of persistent HIV infection, and provide one of the critical missing tools needed to end the worldwide AIDS pandemic."

HIV latency, in which reservoirs of virus persist despite effective antiretroviral therapy and are able to hide from existing anti-HIV drugs and the body's immune defenses, is one of the greatest remaining challenges to achieving a cure. Guochun Jiang and Satya Dandekar, University of California, Davis, discuss the potential of one emerging "shock-and-kill" strategy to eradicate latent viral reservoirs in the Review article "Targeting NF-B Signaling with Protein Kinase C Agonists As an Emerging Strategy for Combating HIV Latency".

Zelda Euler and Galit Alter, Ragon Institute of Massachusetts General Hospital, MIT, and Harvard University (Cambridge, MA), present another latency reversal approach that uses "killer" monoclonal antibody-based drugs that can seek out and eliminate replication-competent HIV in combination with agents able to flush the virus out of its hiding places. The authors describe this novel strategy in the Review article "Exploring the Potential of Monoclonal Antibody Therapeutics for HIV-1 Eradication".

"The HIV research community is turning its attention to a goal that seemed unimaginable not so long ago, the development of a cure for HIV/AIDS," says Thomas Hope, PhD, Editor-in-Chief of AIDS Research and Human Retroviruses and Professor of Cell and Molecular Biology at Northwestern University, Feinberg School of Medicine, Chicago, IL. "To support that effort, we are focusing the first issue of 2015 on HIV cure related research and making the work available free to researchers and the public alike."

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About the Journal

AIDS Research and Human Retroviruses , published monthly in print and online, presents papers, reviews, and case studies documenting the latest developments and research advances in the molecular biology of HIV and SIV and innovative approaches to HIV vaccine and therapeutic drug research, including the development of antiretroviral agents and immune-restorative therapies. The content also explores the molecular and cellular basis of HIV pathogenesis and HIV/HTLV epidemiology. The Journal features rapid publication of emerging sequence information and reports on clinical trials of emerging HIV therapies. Tables of content and a sample issue may be viewed on the AIDS Research and Human Retroviruses website.

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Progress toward an HIV cure highlighted in special issue of AIDS Research and Human Retroviruses

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IMAGE:AIDS Patient Care and STDs is the leading journal for clinicians, enabling them to keep pace with the latest developments in this evolving field. Published monthly online with... view more

Credit: Mary Ann Liebert, Inc., publishers

New Rochelle, NY, January 12, 2015--African Americans currently account for nearly half of all new HIV diagnoses, and among females, 64% of new HIV diagnoses affect Black/African American women. A series of articles reporting results from the Women of Color HIV Initiative, including topics such as linkage and barriers to care, treatment adherence, viral suppression, substance abuse, and violence, are published in a special issue of AIDS Patient Care and STDs, a peer-reviewed journal from Mary Ann Liebert, Inc., publishers. The issue is available free on the AIDS Patient Care and STDs website.

The Women of Color HIV Initiative is a prospective study of more than 920 women who were enrolled in HIV care at one of nine sites (six urban and three rural) across the United States between 2010 and 2013. The Initiative was a Special Projects of National Significance funded by the U.S. Department of Health and Human Services Health Resources and Services Administration.

Arthur E. Blank, PhD, Albert Einstein College of Medicine, Bronx, NY, served as a Guest Editor of this special issue and as a contributing author. In the article "Health Status of HIV-Infected Women Entering Care: Baseline Medical Findings from the Women of Color Initiative," E. Byrd Quinlivan, MD and coauthors, University of North Carolina at Chapel Hill, New York University, City University of New York, and Albert Einstein College of Medicine, report the activity limitations and health conditions affecting the study participants on entering HIV care. The women had more physical and mental health concerns than the general female population in the U.S. and, in particular, cardiovascular disease and diabetes were associated with activity limitation.

Elizabeth A. Eastwood, MD and colleagues, City University of New York, New York University College of Nursing, University of North Carolina at Chapel Hill, Albert Einstein College of Medicine, SUNY Downstate Medical Center, and SUNY School of Public Health, Brooklyn, NY, compare the sociodemographic features of the women who enrolled in HIV medical care. Urban women tended to report more barriers to care, substance abuse, and sexual risk behaviors. Women treated at urban sites were also, for example, more likely to be Hispanic, unemployed, and less educated, as described in the article "Baseline Social Characteristics and Barriers to Care from a Special Project of National Significance Women of Color with HIV Study: A Comparison of Urban and Rural Women and Barriers to HIV Care."

"Across the United States, Black/African American and Latina women are disproportionately affected by HIV, and many face daily struggles to engage in and remain in HIV primary care," says special issue Guest Editor Arthur E. Blank, PhD. "The articles in this issue use a variety of traditional and novel research approaches to document the barriers women of color face, and the factors that contribute to engaging and retaining them in care."

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About the Journal

AIDS Patient Care and STDs is the leading journal for clinicians, enabling them to keep pace with the latest developments in this evolving field. Published monthly online with Open Access options and in print, the Journal spans the full spectrum of adult and pediatric HIV disease, diagnosis, treatment, prevention, and education. Tables of content and a sample issue may be viewed on the AIDS Patient Care and STDs website.

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Findings from the Women of Color HIV Initiative published in AIDS Patient Care and STDs journal

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An international research team finds a link between retinal degeneration and lipid metabolism

IMAGE:Dr. Robert Koenekoop examines a child's eyes and vision at the McGill Ocular Genetics Laboratory. view more

Credit: McGill University Health Centre

This news release is available in French.

Finding genes for retinal degenerations has immediate benefits for people living with blindness and vision loss, their families, and their physicians. Establishing a genetic cause confirms the clinical diagnosis at the molecular level, helps predict the future visual prognosis, suggests therapies, and allows some patients to join clinical trials. While more than 200 genes for retinal degenerations have been identified, approximately 40-50% of cases remain a mystery.

When 11 year old Naomi Lalandec walked into Dr. Robert Koenekoop's clinic at the Montreal Children's Hospital of the McGill University Health Centre (MUHC) with blindness and dwarfism due to Oliver McFarlane Syndrome (OMS), her unknown mutation sparked an international gene hunt. Comparing her genome to others with OMS and Leber congenital amaurosis (LCA), another form of childhood blindness, uncovered a new gene that is critical for vision. What makes this breakthrough exceptional is that it opens up new treatment avenues for OMS and LCA and potentially other retinal degenerative diseases.

"It was like finding a needle in a haystack," said Dr. Koenekoop, who is also a researcher at the Research Institute of the MUHC and a Professor of Human Genetics, Paediatric Surgery and Ophthalmology at McGill University. "It was so obvious to all of us that this was big; a new gene, a possible new disease pathway, a new treatment avenue." With ongoing support from the Foundation Fighting Blindness (FFB), Canada's largest charity supporting vision research, Dr. Koenekoop has spent more than a decade searching for genes linked to blindness. This search brought together an international team of scientists, including Dr. Michel Cayouette at the Institut de recherches cliniques de Montral (IRCM), Dr. Doris Kretzschmar at the Oregon Health and Science University, Dr. Jacek Majewski from the McGill University and Gnome Qubec Innovation Centre and more than 30 others from around the world. Together, the team identified mutations in the PNPLA6 gene in families with retinal degeneration. This is the 20th gene associated with LCA and the first associated with OMS.

Although we've known about the PNLPA6 gene for more than 45 years, no one had identified that mutations in this gene can lead to retinal degeneration - until now. To better understand the role of this gene, the team studied how it functions in fruit flies. They learned that the PNPLA6 gene is expressed and located in photoreceptors (which are the light-sensing cells in the eye) and that mutating the gene causes photoreceptors to die.

To determine what PNPLA6 was doing in photoreceptors, the team did a variety of experiments. They observed that some lipids were elevated in fruit flies with the PNPLA6 mutation, which led them to conclude that PNPLA6 affects phospholipid metabolism. Phospholipids are located in our cell membranes where they influence the membrane's shape and functioning. They also influence how cells communicate with each other by determining the signals that are able to pass through cell membranes. When phospholipids stop doing what they are supposed to do, important signals get lost and cells can no longer maintain their structures or respond to their environment.

This novel insight about the role of phospholipid metabolism in photoreceptor biology paves the way for new sight-saving treatments. These potentially game-changing results were published on January 9, 2015 in the prestigious journal Nature Communications.

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Genetic discovery about childhood blindness paves the way for new treatments

Recommendation and review posted by Bethany Smith

Researchers at the Montreal Heart Institute announced today results showing that patients with cardiovascular disease and the appropriate genetic background benefit greatly from the new medication dalcetrapib, with a reduction of 39% in combined clinical outcomes including heart attacks, strokes, unstable angina, coronary revascularizations and cardiovascular deaths. These patients also benefit from a reduction in the amount of atherosclerosis (thickened walls) in their vessels. The detailed results are published in the Journal Circulation Cardiovascular Genetics. This discovery may also pave the way for a new era in cardiovascular medicine, with personalized or precision drugs.

The team led by Drs Jean-Claude Tardif and Marie-Pierre Dub performed the analysis of 5749 patients who received dalcetrapib or placebo and provided DNA in a clinical study. A strong association was discovered between the effects of dalcetrapib and a specific gene called ADCY9 (adenylate cyclase 9) on chromosome 16, particularly for a specific genetic variant (rs1967309). In patients with the genetic profile AA at rs1967309, there was a 39% reduction in the composite cardiovascular endpoint with dalcetrapib compared to placebo. Supporting evidence was also obtained from a second study, which showed that patients with the favourable genetic profile also benefited from a reduction in the thickness of their carotid artery walls with dalcetrapib.

"These results will lead to a genetics-guided clinical study in patients with the appropriate genetic background to allow review by health regulatory agencies and to provide personalized therapy with dalcetrapib. It also offers great hope for precision treatments for patients with cardiovascular diseases and for curbing atherosclerosis, the first cause of mortality in the world" said lead investigator Jean-Claude Tardif MD, director of the Research Center at the Montreal Heart Institute and professor of medicine at the University of Montreal.

The investigators tested multiple genetic markers across the entire genome in a procedure called genome-wide association study. "We used state-of-the-art genetic and statistical techniques to demonstrate that the effect of the patient's genetic profile was only observed in those treated with dalcetrapib and not placebo. We want to provide patients with additional personalized cardiovascular therapies in the years to come, for more efficacious and safer medicines," commented Marie-Pierre Dub PhD, director of the Beaulieu-Saucier Pharmacogenomics Center at the Montreal Heart Institute and professor of medicine at the University of Montreal.

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The above story is based on materials provided by Montreal Heart Institute. Note: Materials may be edited for content and length.

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Personalized therapy for cardiovascular disease

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Important reduction in events including heart attacks and deaths in patients with the appropriate genetic background to respond to a new medication

IMAGE:This is Dr. Jean-Claude Tardif. view more

Credit: MHI

This news release is available in French.

Montreal, January 12 2015 - Researchers at the Montreal Heart Institute announced today results showing that patients with cardiovascular disease and the appropriate genetic background benefit greatly from the new medication dalcetrapib, with a reduction of 39% in combined clinical outcomes including heart attacks, strokes, unstable angina, coronary revascularizations and cardiovascular deaths. These patients also benefit from a reduction in the amount of atherosclerosis (thickened walls) in their vessels. The detailed results are published in the prestigious Journal Circulation Cardiovascular Genetics. This discovery may also pave the way for a new era in cardiovascular medicine, with personalized or precision drugs.

The team led by Drs Jean-Claude Tardif and Marie-Pierre Dub performed the analysis of 5749 patients who received dalcetrapib or placebo and provided DNA in a clinical study. A strong association was discovered between the effects of dalcetrapib and a specific gene called ADCY9 (adenylate cyclase 9) on chromosome 16, particularly for a specific genetic variant (rs1967309). In patients with the genetic profile AA at rs1967309, there was a 39% reduction in the composite cardiovascular endpoint with dalcetrapib compared to placebo. Supporting evidence was also obtained from a second study, which showed that patients with the favourable genetic profile also benefited from a reduction in the thickness of their carotid artery walls with dalcetrapib.

"These results will lead to a genetics-guided clinical study in patients with the appropriate genetic background to allow review by health regulatory agencies and to provide personalized therapy with dalcetrapib. It also offers great hope for precision treatments for patients with cardiovascular diseases and for curbing atherosclerosis, the first cause of mortality in the world" said lead investigator Jean-Claude Tardif MD, director of the Research Center at the Montreal Heart Institute and professor of medicine at the University of Montreal.

The investigators tested multiple genetic markers across the entire genome in a procedure called genome-wide association study. "We used state-of-the-art genetic and statistical techniques to demonstrate that the effect of the patient's genetic profile was only observed in those treated with dalcetrapib and not placebo. We want to provide patients with additional personalized cardiovascular therapies in the years to come, for more efficacious and safer medicines", commented Marie-Pierre Dub PhD, director of the Beaulieu-Saucier Pharmacogenomics Center at the Montreal Heart Institute and professor of medicine at the University of Montreal.

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Dr. Jean-Claude Tardif is available for interviews.

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World first at the Montreal Heart Institute -- personalized therapy for cardiovascular disease

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Genetics explanation of how hemophilia inherited
Hemophilia is a rare bleeding disorder in which the blood doesn #39;t clot normally. If you have hemophilia, you may bleed for a longer time than others after an injury. You also may bleed inside...

By: Nikolay #39;s Genetics Lessons

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Genetics explanation of how hemophilia inherited - Video

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Myeloproliferative Neoplasms in 2014: Morphology, Molecular Genetics, and Test Utilization
Presentation 5 of 8 from the Mayo Clinic symposium, "Data-Driven Algorithms for Optimizing Laboratory Test Utilization for Hematologic Malignancies." Rong He, M.D., Mayo Clinic hematopathologist,...

By: Mayo Medical Laboratories

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Myeloproliferative Neoplasms in 2014: Morphology, Molecular Genetics, and Test Utilization - Video

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Update: dte genetics
Jesus og looking good and healthy. Weekly updates coming, keep medicating.

By: (RMC)rockymountaincultivators

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Update: dte genetics - Video

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Grant Korgan: The Push (Trailer)
After sustaining a spinal cord injury that left him paralyzed from the waist down, adventurer Grant Korgan - who had never encountered a slope he couldn #39;t ski or a jump he couldn #39;t land on...

By: APB Speakers

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Grant Korgan: The Push (Trailer) - Video

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Grant Korgan: Stand In Your Truth
After sustaining a spinal cord injury that left him paralyzed from the waist down, adventurer Grant Korgan - who had never encountered a slope he couldn #39;t ski or a jump he couldn #39;t land on...

By: APB Speakers

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Grant Korgan: Stand In Your Truth - Video

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Grant Korgan: Two Feet Back
After sustaining a spinal cord injury that left him paralyzed from the waist down, adventurer Grant Korgan - who had never encountered a slope he couldn #39;t ski or a jump he couldn #39;t land on...

By: APB Speakers

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Grant Korgan: Two Feet Back - Video

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Grant Korgan: You Are Unbreakable
After sustaining a spinal cord injury that left him paralyzed from the waist down, adventurer Grant Korgan - who had never encountered a slope he couldn #39;t ski or a jump he couldn #39;t land on...

By: APB Speakers

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Grant Korgan: You Are Unbreakable - Video

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Grant Korgan: The Push: A South Pole Adventure
After sustaining a spinal cord injury that left him paralyzed from the waist down, adventurer Grant Korgan - who had never encountered a slope he couldn #39;t ski or a jump he couldn #39;t land on...

By: APB Speakers

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Grant Korgan: The Push: A South Pole Adventure - Video

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Grant Korgan: The Goosebumps of Life: Grant Korgan at TedX San Diego
After sustaining a spinal cord injury that left him paralyzed from the waist down, adventurer Grant Korgan - who had never encountered a slope he couldn #39;t ski or a jump he couldn #39;t land on...

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Grant Korgan: The Goosebumps of Life: Grant Korgan at TedX San Diego - Video

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IMAGE:This is the cover for Stem Cells, Tissue Engineering and Regenerative Medicine. view more

Credit: World Scientific, 2015

In his latest book published by World Scientific, Professor David Warburton from The Saban Research Institute of Children's Hospital Los Angeles and the University of Southern California presents a collection of essays on the current state of the regenerative medicine and stem cell research field.

Entitled Stem Cells, Tissue Engineering and Regenerative Medicine, this up-to-date compendium surveys current issues in stem cell biology and regenerative medicine. Topics range from key concepts in regenerative medicine to the newest progenitor cell therapies for organ systems, to advice on how to set up a pluripotent stem cell laboratory.

Overviews of the most recent progress in stem cell research describe work that is in the pre-clinical pipeline from scientists working at The Saban Research Institute of Children's Hospital Los Angeles and colleagues around the world.

"The book addresses some of the big questions faced by researchers in the field of stem cell biology and regenerative medicine," said Professor Warburton. "Those of us working in this field in California are positively impacted by the critical funding provided by the citizens of the state through the California Institute for Regenerative Medicine. I believe this book shows that the hope behind CIRM - the hope that stem cells can really revolutionize medicine and human health - is fully justified."

A global collection of essays from collaborating investigators in Australia, Brazil, Iran, Taiwan and the United Kingdom, as well as across the United States. This book will describe diverse regenerative medicine solutions for airways, cancer, craniofacial structures, intestine, heart, kidney, liver, lung and nervous system. These advances are placed in the context of the overall field, providing an investigator-level overview which will be accessible to the educated scientific generalist as well as a college-educated readership, scientific writers, educators and professionals of all kinds.

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Professor Warburton's research is supported by the California Institute for Regenerative Medicine, the National Institutes of Health: National Heart, Lung and Blood Institute, National Institute of Environmental Health Sciences, Fogarty International Center, National Institute of General Medical Sciences, The Pasadena Guild of Children's Hospital Los Angeles, The Santa Anita Foundation, The Webb Foundation, The Garland Foundation and anonymous venture philanthropy.

The book retails for US$155/ 102 (hardcover). More information on the book can be found at http://www.worldscientific.com/worldscibooks/10.1142/9212.

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Renowned professor's book addresses stem cell biology & regenerative medicine

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