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Rare gene doubles lung cancer risk

One in four smokers who carry a gene mutation found in two per cent of the population will develop lung cancer, a large-scale study has shown.

The defective gene, known as BRCA2, has long been linked to breast and ovarian cancers.

Scientists found that a specific flaw in the gene almost doubles the overall risk of lung cancer.

A quarter of smokers, who generally have a 13 per cent life-time risk of lung cancer, were predicted to develop the disease if they had the mutation.

'Our results show that some smokers with BRCA2 mutations are at an enormous risk of lung cancer - somewhere in the region of 25 per cent over their lifetime,' said study leader Professor Richard Houlston, from the Institute of Cancer Research in London.

'Lung cancer claims more than a million lives a year worldwide and is by far the biggest cancer killer in the UK.

'We know that the single biggest thing we can do to reduce death rates is to persuade people not to smoke, and our new findings make plain that this is even more critical in people with an underlying genetic risk.'

The scientists scoured the DNA of more than 17,000 Europeans with and without lung cancer looking for any differences linked to the disease.

They spotted a specific alteration in the genetic code of BRCA2 known as c.9976T that was strongly associated with lung cancer.

It was especially prevalent among patients with the most common form of the disease, known as squamous cell lung cancer.

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Rare gene doubles lung cancer risk

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Involving a genetic health care professional may improve quality, reduce unnecessary testing

A new Moffitt Cancer Center study published Thursday in Genetics in Medicine shows that counseling from a genetic health care provider before genetic testing educates patients and may help reduce unnecessary procedures.

Up to 10 percent of cancers are inherited, meaning a person was born with an abnormal gene that increases their risk for cancer. "Pre-test genetic counseling in which a health care provider takes a thorough family history and discusses the potential risks and benefits of genetic testing is standard of care as recommended by the American Society of Clinical Oncology and National Society of Genetic Counselors," said Tuya Pal, M.D., a board-certified geneticist at Moffitt and senior author of the paper.

In the Moffitt study, researchers surveyed 473 patients who had genetic testing for BRCA1 and BRCA2 gene mutations, which are associated with an increased risk of breast and ovarian cancers. Among study participants who saw a board-certified geneticist or genetic counselor, almost all recalled having a pre-test discussion, compared to only 59 percent of those who did not. These findings suggest large differences in quality of care across providers who order testing.

The researchers also suggest there may be cost-of-care implications when genetic health care providers are involved. "Our results suggest that genetic health care providers are less likely to order more expensive comprehensive genetic testing, when less expensive testing may be appropriate," said Deborah Cragun, Ph.D., lead study author and post-doctoral fellow at Moffitt. "Our study found that in cases where less expensive testing may be appropriate, genetic health care providers ordered comprehensive testing for 9.5 percent of participants, compared to 19.4 percent when tests were ordered by other health care providers. At the time of data collection, comprehensive genetic testing cost approximately $4,000, compared to $400 for the less expensive testing."

The findings are important, noted researchers, because costs and quality of care are often the focus of policy-level decisions in health care.

The study was supported by grants from Florida's Bankhead-Coley Cancer Research Program (IBG09-34198) and the National Cancer Institute (5R25 CA147832-04).

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The above story is based on materials provided by Moffitt Cancer Center. Note: Materials may be edited for content and length.

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Changes in Genetic Testing Recommendations Strengthen Patient Autonomy

Released: 6/12/2014 11:40 AM EDT Source Newsroom: Mayo Clinic Contact Information

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Newswise ROCHESTER, Minn. Recent modifications in recommendations regarding incidental findings (IFs) in genetic testing from the American College of Medical Genetics and Genomics (ACMG) depart from the colleges 2013 recommendations in favor of an individualized approach. Experts in the Bioethics Program of the Mayo Clinic Center for Individualized Medicine published a review of the updated 2014 recommendations in the journal Proceedings.

The feedback from ACMG members indicated that the 2013 recommendations did not accommodate diverse patient needs, says Jennifer McCormick, Ph.D., M.P.P., who authored the review.

The 2013 recommendations embraced an all-or-nothing philosophy, which advised patients who did not want to be informed of some, or all, IFs to forgo whole exome or whole genome sequencing (WES/WGS), according to the review. In addition, the college originally instructed that laboratories actively search and notify patients of pathogenic variants in genes, which raised controversy regarding patient rights.

With the 2014 recommendations, patients have more autonomy to customize their WES/WGS results based on their comfort level with knowledge, other than the original reason to seek genetic testing, says Dr. McCormick.

"This is an important discussion, and the move toward greater autonomy is good for everyone both patients and physicians," says Dr. McCormick. "Medicine in general is moving toward more patient autonomy and shared decision making. Genomics and individualized medicine happen to be the starkest and least well-defined examples of this trend we have no best practices yet."

Much genomic analysis is meant to aid the patient in making medical decisions, sometimes in the distant future, and there are often far-reaching implications for family members, say Dr. McCormick and her co-authors. These factors combine to make this type of testing very personal, especially regarding incidental findings. For example, patients can decide before testing to filter their results for only one part of their genome. This step is important because it differentiates between single-gene testing and WES/WGS. Where single-gene testing is selective, whole exome/genome sequencing is comprehensive.

Studies being done at Mayo Clinic and elsewhere are examining the preferences of patients regarding IFs found while conducting WES/WGS. Clinical trials also are being used to learn the advantages and disadvantages of informing patients about the results of their whole genome sequence.

Other authors include Richard Sharp, Ph.D.; Gianrico Farrugia, M.D.; Noralane Lindor, M.D.; Dusica Babovic-Vuksanovic, M.D.; Mitesh Borad, M.D.; Alan Bryce, M.D.; Richard Caselli, M.D.; Matthew Ferber, Ph.D.; Kiley Johnson, C.G.C.; Konstantinos Lazaridis, M.D.; Robert McWilliams, M.D.; Joseph Murray, M.D.; Alexander Parker, Ph.D.; Kimberly Schahl, C.G.C.; and Eric Wieben, Ph.D., all of Mayo Clinic.

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Genotyping can predict disease outcomes in rheumatoid arthritis patients

New cohort studies presented today at the European League Against Rheumatism Annual Congress (EULAR 2014) have shown the amino acid valine at position 11 of HLA-DRB1 gene to be the strongest independent genetic determinant of radiological damage in rheumatoid arthritis (RA).1 In addition, positions 71 and 74 were found to represent independent predictors, with the three positions together: 11, 71 and 74 strongly associated with disease outcomes.1

According to lead author Dr Sebastien Viatte of the Arthritis Research UK Centre for Genetics and Genomics, Manchester, United Kingdom, "this major advance in genetics might allow stratification of RA patients at the onset of their disease to identify those at risk of joint damage and early death, and also those who are more likely to respond to anti-TNF biological therapy."

RA is a common chronic inflammatory autoimmune disease characterised by inflammation of synovial joints leading to damage to the inside of the joint and surrounding soft tissues. The cause of RA is largely unknown, but both environmental factors and genetic susceptibility appear to be involved.

Although the prevalence of RA is relatively constant in most countries at between 0.5-1.0 percent, the higher occurrence among native American-Indian populations and very low occurrence in China and Japan supports the strong influence of genotype on the epidemiology.2 Previously, a group of alleles on the HLA DRB1 gene, known as the 'shared epitope' was thought to have the strongest effect on RA susceptibility. More recently, position 11 outside the classical shared epitope had been shown to be a stronger predictor of RA susceptibility.3

"This new evidence from our multi-centre cohort studies has shown that positions 11, 71 and 74 on the HLA-DRB1 gene now supersede the classical shared epitope," Dr Viatte concluded. Three independent multi-centre prospective cohort studies: the Norfolk Arthritis Register-NOAR (1691 patients with 2811 X-rays); the Early Rheumatoid Arthritis Study-ERAS (421 patients with 3758 X-rays); and a cohort from 57 UK centres-BRAGGSS* (1846 patients with treatment response) were used to assess whether HLA-DRB1 positions 11, 71, 74 could predict radiological outcome, anti-TNF response and mortality in patients with RA.

The finding that the amino acid valine at position 11 of HLA-DRB1 (Val11) was the strongest independent genetic determinant of radiological damage in RA was replicated in separate cohorts. Three positions 11, 71 and 74, which together define 16 haplotypes (combinations of gene segments), were strongly associated with disease outcome, superseding the shared epitope. The hierarchy, ranging from risk to protective effects, was perfectly correlated with that observed for disease susceptibility.

HLA-DRB1 haplotypes associated with RA susceptibility and severe outcome were also predictors of good treatment response with anti-TNF therapy. For example, the Val11Lys71Ala74-haplotype, carried by 52% of patients, was associated with a good EULAR response. On average, 17 patients needed to be treated with anti-TNF to see one more patient responding better, based solely on the carriage of this haplotype. Both all-cause and cardiovascular mortality was also predicted by the 16 haplotypes.

HLA typing was determined using a reverse dot-blot method or dense genotyping of the HLA region by the ImmunoChip array, followed by imputation. Longitudinal modelling of the presence of erosions was performed with Generalized Estimating Equation (GEE) models, whilst the Larsen score was modelled with Generalized Linear Latent and Mixed Modelling (GLLAMM).

Notes:

1 Viatte S et al. Personalised genetic medicine: amino acid positions 11, 71 AND 74 in HLA-DRB1 predict disease severity, treatment response and mortality in rheumatoid arthritis; multi-centre prospective cohort studies. EULAR 2014; Paris: OP0190

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Genotyping can predict disease outcomes in rheumatoid arthritis patients

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Genetics and Kidney Disease And Soutions Part 3 – Video


Genetics and Kidney Disease And Soutions Part 3
Kidney problems are common. And the number of people with serious kidney problems, such as kidney disease and kidney cancer, is increasing.The kidneys are twin, fist-size organs located at...

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Blood Disorder Patients Respond Strongly to Bluebird Bio Gene Therapy

MILAN (TheStreet) -- Two patients with a serious, inherited blood disorder have been able to stop blood transfusions following a single treatment with an experimental gene therapy developed by Bluebird Bio (BLUE), according to new but preliminary data presented Saturday.

The two patients reported on today have beta-thalassemia (B-thal), a disease caused by a missing or defective gene which prevents oxygen-carrying hemoglobin from functioning properly. The BlueBird therapy, known as LentiGlobin, replaces the defective gene with one that is fully functional.

Beta-thalassemia patients suffer from chronic anemia and typically require regular and lifelong blood transfusions. Following a single infusion of Bluebird's LentiGlobin gene therapy, the two B-thal patients started producing functional hemoglobin and within 10 and 12 days, respectively, were able to halt blood transfusions. The patients have now been blood-transfusion independent for approximately 6 and 3 months, respectively, according to Bluebird Chief Medical Officer David Davidson. The data are being presented Saturday at the European Hematology Association annual meeting.

"Following the [gene] transplant, we're seeing near normal levels of hemoglobin," said Davidson. "These early results far exceeded our expectations."

Bluebird only has limited data on two patients and the study, conducted in France, continues with seven B-thal patients expected to enroll and be treated. Bluebird has begun another Lentiglobin B-Thal study in the U.S., which will enroll 15 patients. The company expects to report updated results from the Lentiglobin studies at the end of the year.

Bluebird went public last year partly on the back of some encouraging proof of concept datashowing a first-generation gene therapy approach was feasible for B-thal patients. LentiGlobin is a second-generation gene therapy designed to be more potent -- and hopefully more effective. The results presented today suggest Bluebird's improved gene therapy is leading to more clinical benefit for patients.

The two patients entered the study with the "major" or Beta E/Beta 0 genotype of B-thal, which required them to undergo monthly blood transfusions to deal with chronic anemia. Following the Lentiglobin infusion, patient 1 produced 6.6 g/dl of "marked" beta-globin at 4.5 months, a measure of functional hemoglobin produced by the working gene inserted by LentiGlobin. Patient 2 produced 4.2 g/dl of "marked" beta-globin at 2 months. In both cases, LentiGlobin is producing more functional hemoglobin and at a faster rate than Bluebird's first generation gene therapy.

With two weeks, both patients were transfusion independent, which is the most important measure of clinical benefit in B-thal.

Bluebird estimates there are about 15,000 patients with B-thal in the U.S. and Europe, a majority of which have the major genotype which requires regular blood transfusions and would be candidates for LentiGlobin.

In addition to B-tha, Bluebird is developing LentiGlobin as a treatment for sickle cell anemia, a related but more prevalent disease.

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Blood Disorder Patients Respond Strongly to Bluebird Bio Gene Therapy

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A GUIDE TO SPINAL CORD INJURY – Video


A GUIDE TO SPINAL CORD INJURY

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Animation about the BioMedical Materials Program (BMM). – Video


Animation about the BioMedical Materials Program (BMM).
Animation about the aim of the BioMedical Materials Program (BMM); a program focused on radical innovations in biomaterials and regenerative medicine.

By: BioMedical Materials Program

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Experiment Grows New Muscle in Injured Legs – Video


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An experimental implant using part of a pig bladder, along with regular physical therapy, coaxed new muscle tissue to grow in old, debilitating leg injuries....

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New Stem Cell Based Treatment for COPD; Nebulized Pure PRP System Uses Blood Growth Factors That Can Trigger Healing …

Sarasota, FL (PRWEB) June 12, 2014

Nebulized Pure PRP may offer COPD sufferers a less expensive and an effective alternative to stem cell therapy. When normal injury occurs, platelets are stimulated to release growth factors, cytokines and other immune system components in what is called the inflammatory phase of healing. In the lungs, platelets can adhere to injured or inflamed endothelial cells where they start the healing process. It is believed that by increasing the number of platelets in the lungs through this method, it is possible to decrease inflammation and accelerate the healing process in the lungs. Platelets are vehicles for the delivery of growth factors (PDGF, TGF-, IGF, EGF, VEGF) that induce proliferation of fibroblasts, osteoblasts and endothelial cells, promoting and accelerating healing of hard and soft tissues.

Autologous Platelet Rich Plasma also contains fibrin, fibronectin and vitronectin that act as cell adhesion molecules for lung epithelial migration. Autologous Platelet Rich Plasma treatment has been evaluated in various medical disciplines including orthopaedics, wound healing, neurosurgery, dentistry as well as cosmetic, plastic and cardiothoracic surgery. Nebulized Pure PRP treatment holds much promise and is being researched for its applications.

This new medical advance can bring effective and affordable healthcare to many patients with COPD. It is also attractive because the patients own blood is used thus, limiting the potential for disease transmission.

Our key product differentiation is to enable the Pure PRP treatment to be applied to patients who are suffering from COPD. COPD is the most dangerous disease in the elderly, affecting more than 200 million people across the globe. COPD is considered to be the cause of about 3 million deaths annually. This is a life-threatening disease caused by many reasons such as smoking, pollution, dust, irritants, genetic disorders, etc. It is associated with the excess production of sputum and an inflammation which obstructs the airways and results in breathing problems.

Though there is no cure for COPD, the condition can be controlled with the help of treatments. Stem cell therapy which has proved to be one of the most successful treatments for many chronic health conditions like heart disease, stroke, osteoporosis, etc., has given a ray of hope in favor of COPD. Stem cells are known for their regenerative properties which help in the development of the tissues and blood cells. These cells are of two types: embryonic stem cells and adult stem cells. Embryonic stem cells can be derived from blastocyst which is a type of embryo; whereas adult stem cells are found in the bone marrow, skin, umbilical cord, placenta and many other tissues. Embryonic stem cells are derived and are grown in cell culture for research and development. But adult stem cells, once removed from the body, divide with great difficulty which makes the treatment difficult to perform. The stem cells are either from the person itself who needs it which is known as autologous stem cell or they can be received from a donor which is known as allogeneic stem cell.

Cells donated by the donor may or may not be accepted by the bodys immune system. Hence, using ones own stem cells reduces the chances of rejection. In COPD, the tissues and cells of the lungs are destroyed, which causes various types of complications. Hence, with the help of stem cell therapy, the destroyed or damaged cells can be regenerated and new lung tissues can be formed. According to the procedure followed by the International Stem Cell Institute (ISCI); San Diego, California, adipose tissue is removed from the patient and is processed with a combination of platelet rich plasma which contains growth factors that help in the process of cell multiplication and development. This helps in COPD treatment as whenever the lungs need repair, about 80% of the stem cells reach the repairing site through the circulatory system. When the blood passes through the lungs, stem cells get trapped in the space where there is damage. The stem cells then start multiplying and repairing the tissue. The recovery does not take place immediately, but improvement can be noticed in 3 to 6 months. It helps in the suppression of inflammation, improves breathing and cures many pulmonary complications. Our Nebulized Pure PRP System aims to support this proposition to treat COPD patients. Treatments run about $1,000 and insurance does not currently pay for this treatment.

Contact our office at (941) 330-8553 to find out more about how Nebulized Pure PRP can offer you relief from symptoms of COPD. Also we are at http://advancedwellness.us/blog2/nebulized-platelet-rich-plasma-prp-for-asthma-copd-and-systemic-growth-effects-in-athletics/

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New Stem Cell Based Treatment for COPD; Nebulized Pure PRP System Uses Blood Growth Factors That Can Trigger Healing ...

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Gene – Journal – Elsevier

Gene publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses.

Gene strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include:

DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.

Gene encourages submission of novel manuscripts that present a reasonable level of analysis, functional relevance and/or mechanistic insight. Gene also welcomes papers that have predominantly a descriptive component but improve the essential basis of knowledge for subsequent functional studies, or provide important confirmation of recently published discoveries.

The primary criteria for acceptance are that the work is original and scientifically sound. The journal appreciates that standards of novelty are arbitrary, differ among disciplines and geographic locations, as well as change with time. In partnership with Editors, Referees and Authors, the journal will promote the revision of papers to ensure that accepted papers are reasonably complete and competitive with concurrent submissions in a given field.

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Obesity gene linked to hormonal changes that favor energy surplus

A new study from Uppsala University demonstrates that elderly humans carrying a common variant of the fat mass and obesity gene FTO also have a shifted endocrine balance. Low blood concentrations of the satiety hormone leptin and high blood concentrations of the hunger promoting hormone ghrelin makes carriers of the FTO gene put on weight. The findings are published in the journal Diabetes.

In the Prospective Investigation of the Vasculature in Uppsala Seniors, researchers from Uppsala University and the University of Ume used data from 985 elderly participants (50% females) with an average age of 70 years to examine whether circulating levels of ghrelin and leptin, measured after an overnight fast, are linked to a common variant of FTO.

"We found that elderly carrying an obesity-susceptible variant of the FTO gene had plasma ghrelin levels that were approximately 9 percent higher than in non-carriers. In contrast, serum levels of the satiety enhancing hormone leptin were roughly 11 percent lower," says Christian Benedict, researcher at Uppsala University.

"The present findings suggest that this FTO variant may facilitate weight gain in humans by shifting the endocrine balance from the satiety hormone leptin toward the hunger promoting hormone ghrelin," says Christian Benedict.

Story Source:

The above story is based on materials provided by Uppsala Universitet. The original article was written by Linda Koffmar. Note: Materials may be edited for content and length.

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Obesity gene linked to hormonal changes that favor energy surplus

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Genetic engineering might eliminate malaria! – Video


Genetic engineering might eliminate malaria!
News from the American Council on Science and Health.

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Horizons reloaded ep23 Start of the genetic engineering. – Video


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Let’s Play: Sims 3 Perfect Genetics Challenge – Episode 5 – Video


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Thank you so much for watching! I greatly appreciate it! Please comment, like and subscribe for more great videos from my channel. Also, check out some more ...

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Elementary Genetics – Video


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Gene Therapy Partnering Terms and Agreements – Video


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Bionaturis and Personalized Medicine – Video


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Dr. Brandon Colby on Proactive, Personalized Medicine (TV Interview) – Video


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Prof Jrgen Pannek | Spinal cord injury & urinary tract infection research and homeopathy – Video


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Spinal Cord Injury Pool Protocol – Video


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Spinal Cord Injury: Matt Valente, New Yorker of the week 5/9/14 – Video


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Texas Biomed Regenerative Medicine Program Expands With Two New Research Scientists

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Newswise San Antonio, June 10, 2014 Texas Biomedical Research Institute has recruited two new research scientists to its Southwest National Primate Research Center (SNPRC) who will focus on regenerative medicine, working with animal models to develop human stem cell therapies for medical conditions such as Parkinsons disease, degenerative diseases of the eye and muscular dystrophy.

Tiziano Barberi, PhD and Marcel M. Daadi, PhD join Texas Biomed as Associate Scientists in the SNPRC. Barberi comes from the Australian Regenerative Medicine Institute at Monash University in Melbourne, Australia and Daadi arrives from Palo Alto, CA where he was part of the Consulting Faculty of Stanford Universitys Department of Neurosurgery. He is also President and Chief Scientific Officer of NeoNeuron LLC.

Dr. Barberi and Dr. Daadi are significant additions to our regenerative medicine research program, Texas Biomed President and CEO Kenneth P. Trevett said. Both have focused on stem cell research, have published significant research results in peer review journals and received recognition for their leading roles within research teams and at institutions. Regenerative medicine is a major focus for Texas Biomed, where we have new facilities and financial resources dedicated for that purpose, he said. We also look to expand our work with other institutions and groups in San Antonio to promote progress in this field. Dr. Barberi and Dr. Daadi both have strong backgrounds in developing collaborative efforts, and we look forward to the contributions they will make in this important research arena.

Barberi, a native of Italy, had been one of 15 Chief Investigators of the Stem Cells Australia Consortium for stem cell research and Group Leader for the Australian Regenerative Medicine Institute. With a laboratory research focus on the directed differentiation of human pluripotent stem cells (hESC and iPSC) into specific developmental fates, his research aims are to provide tools for human development studies, in vitro disease modeling and a cell therapeutics approach to disease. He described in a seminal work a method to obtain all the clinically relevant neuronal subtypes from mESC, and was the first to have directed differentiation of hESC into mesenchymal precursors and into the progenitor cells forming the skeletal muscle system.

Prior to his work in Australia, Barberi was head of the Laboratory of Stem Cells and Development at the Beckman Research Institute of City of Hope in Duarte, CA. During the time spent at City of Hope, Barberi was awarded the prestigious New Faculty Award from the California Institute for Regenerative Medicine (CIRM). He is an invited reviewer for a number of stem cell-related research journals and is a grant reviewer/assessor for research programs in Canada, Australia, New Zealand and the European Union.

Daadi has unique academia and industry experiences bridging basic and translational research. He comes to Texas Biomed from the San Francisco bay area where he founded a biotechnology company, NeoNeuron, focused on developing therapies for treating neurological disorders. He served as Director of Stem Cell Research, CIRM Disease Team Stroke Neural Transplant Program at Stanford University School of Medicine and Director of the Parkinson's Disease Program at the Sanford Burnham Medical Research Institute, Layton Biosciences Inc and NeuroSpheres LLC.

At Stanford University, Daadi developed a novel technology to purify homogenous populations of neural stem cells from human pluripotent stem cells and coax them to specific types of neurons that can be used for brain repair. His research is paving the way for clinical trials to treat patients with devastating neurological disorders, such as Parkinsons disease, stroke and traumatic brain injury. He seeks to expand on the capabilities of the SNPRC and to build new collaborative programs and projects in stem cell research with colleagues at the University of Texas Health Science Center at San Antonio and the University of Texas at San Antonio.

Daadi serves as editor and reviewer for many peer review journals. He is a permanent member on the National Institutes of Health Grant Review Committee, The Maryland Stem Cell Research Fund and serves on many other national and international Grant Review Committees.

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Texas Biomed Regenerative Medicine Program Expands With Two New Research Scientists

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Toddler Meets Life-Saving Bone Marrow Donor

When she was 18 months old, Maddie Weimer broke out in red spots all over her belly and back.

We werent really worried, said Maddies mom, Stacey Weimer, a 29-year-old bank teller supervisor who lives in Phoenix. She had never been sick and had no sign of illness.

Still, Weimer took Maddie to the doctor to be sure. Blood tests revealed that her platelet and neutrophil counts were low, but doctors at Phoenix Childrens Hospital ruled out leukemia.

A huge weight was lifted off shoulders, said Weimer. But that was short-lived.

Weeks later in April 2012, additional blood tests and a biopsy led to a frightening diagnosis -- Maddie had myelodysplastic syndrome or MDS, the same rare blood disorder that struck ABCs Robin Roberts.

MDS, which can lead to leukemia, is even rarer in children, according to the American Cancer Society.

Weimer was told the only option for Maddies survival was a bone marrow transplant, she said. But unlike Roberts, whose sister Sally-Ann was a perfect match, Maddie had no siblings and none of her relatives were compatible.

Robin Roberts' Journey: Inside Her Courageous Fight Against MDS

Why is Bailey Personette a hometown hero?

Now 3 years old, Maddie is in remission thanks to Bailey Personette, who in 2011 volunteered to be a bone marrow donor at a fair held at Purdue University in Indiana.

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Toddler Meets Life-Saving Bone Marrow Donor

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LEGALIZING STM CELL THERAPY ~ By Reyes: U.S.SENATOR – Video


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I created this video with the YouTube Slideshow Creator (http://www.youtube.com/upload)

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