Archive for November, 2014

Researchers found stem cells in mouse nails that performed two roles They cause nails to grow, and focus on repair when it is lost or injured The experts tracked how stem cells in the nails of mice split and grow It is hoped the same cells could be manipulated to grow tissue in other body parts

By Ellie Zolfagharifard for MailOnline

Published: 10:23 EST, 24 November 2014 | Updated: 10:23 EST, 24 November 2014

The blue-tailed skink has the remarkable ability to lose its tail to distract predators, and then grow a new one.

And someday, thanks to cells found in our nails, humans could have similar lizard-like abilities that will help us regrow lost limbs.

Researchers in the US recently found unique stem cells in nails that perform two roles - they cause nails to grow, and they focus on nail repair when it is lost or injured.

Researchers in the US recently found unique stem cells (shown in the above animation) in nails that perform two roles; they cause nails to grow, and focus on nail repair when it is lost or injured

The researchers claim these stem cells could be manipulated to grow tissue for other body parts, helping to someday recover lost limbs or organs.

The elusive stem cells were found at the University of Southern California by attaching dyes as 'labels' on mouse nail cells.

Many of these cells repeatedly divided, diluting the dyes and labels in the process.

Originally posted here:
Could nails help us regrow LIMBS? Stem cells found on fingers and toes could someday give humans lizard-like abilities

Scientists have created pain in a dish by converting skin cells into sensitive neurons.

The laboratory-generated nerve cells respond to a range of different kinds of pain stimulation, including physical injury, chronic inflammation, and cancer chemotherapy.

In future they could be used to investigate the origins of pain and develop better pain-relieving drugs.

The work followed years of unsuccessful attempts to produce nerve cells from embryonic stem cells, immature blank slate cells with the potential to become any tissue in the body.

A turning point came with the development of technology that allowed ordinary skin cells to be re-programmed into induced stem cells.

A team led by Dr Clifford Woolf at Harvard Medical School used a cocktail of transcription factors proteins that control the activity of genes to transform mouse and human skin cells directly into pain-sensing neurons.

The researchers, whose findings are reported in the journal Nature Neuroscience, were able to model pain hypersensitivity experienced by patients who donated skin cells to the study.

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Scientists have created 'pain in a dish'

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Newswise LA JOLLA, CANovember 24, 2014A team led by scientists from The Scripps Research Institute (TSRI) has found a simple method to convert human skin cells into the specialized neurons that detect pain, itch, touch and other bodily sensations. These neurons are also affected by spinal cord injury and involved in Friedreichs ataxia, a devastating and currently incurable neurodegenerative disease that largely strikes children.

The discovery allows this broad class of human neurons and their sensory mechanisms to be studied relatively easily in the laboratory. The induced sensory neurons generated by this method should also be useful in the testing of potential new therapies for pain, itch and related conditions.

Following on the work of TSRI Professor Ardem Patapoutian, who has identified many of the genes that endow these neurons with selective responses to temperature, pain and pressure, we have found a way to produce induced sensory neurons from humans where these genes can be expressed in their normal cellular environment, said Associate Professor Kristin K. Baldwin, an investigator in TSRIs Dorris Neuroscience Center. This method is rapid, robust and scalable. Therefore we hope that these induced sensory neurons will allow our group and others to identify new compounds that block pain and itch and to better understand and treat neurodegenerative disease and spinal cord injury.

The report by Baldwins team appears as an advance online publication in Nature Neuroscience on November 24, 2014.

In Search of a Better Model

The neurons that can be made with the new technique normally reside in clusters called dorsal root ganglia (DRG) along the outer spine. DRG sensory neurons extend their nerve fibers into the skin, muscle and joints all over the body, where they variously detect gentle touch, painful touch, heat, cold, wounds and inflammation, itch-inducing substances, chemical irritants, vibrations, the fullness of the bladder and colon, and even information about how the body and its limbs are positioned. Recently these neurons have also been linked to aging and to autoimmune disease.

Because of the difficulties involved in harvesting and culturing adult human neurons, most research on DRG neurons has been done in mice. But mice are of limited use in understanding the human version of this broad somatosensory system.

Mouse models dont represent the full diversity of the human response, said Joel W. Blanchard, a PhD candidate in the Baldwin laboratory who was co-lead author of the study with Research Associate Kevin T. Eade.

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Pain and Itch in a Dish

November 25, 2014

Chuck Bednar for redOrbit.com Your Universe Online

Two different teams of researchers, one led by scientists from The Scripps Research Institute (TSRI) and the other involving members of the Harvard Stem Cell Institute (HSCI) have discovered ways to create the neurons that detect pain, itch and other sensations in laboratory conditions out of human and mouse skin cells.

The TSRI study, which was published online Monday in the journal Nature Neuroscience, used what the authors referred to as a simple technique to create neurons that normally reside in clusters called dorsal root ganglia (DRG) along the outer spine. Those neurons are often affected by spinal cord injuries and a neurodegenerative condition known as Friedreichs ataxia.

According to the researchers, DRG sensory neurons extend their nerve fibers into skin, muscle and joints located throughout the body. The neurons are capable of alternately detecting gentle touch, painful contact, heat, cold, wounds, inflammation, chemical irritants, itch-inducing agents and fullness of the bowels and bladder. They also relay information about the position of the body and limbs, and have been linked to aging and autoimmune disease.

Due to the difficulties involved in culturing adult human neurons, most research relating to DRG neurons has been done in mice. However, the rodents are of limited use in understanding the human version of this somatosensory system, TSRI explained. The new discovery will allow this type of human neurons and their associated sensory mechanisms to be studied with relative ease in laboratory conditions, according to the study authors.

We have found a way to produce induced sensory neurons from humans where these genes can be expressed in their normal cellular environment, associate professor Kristin K. Baldwin, an investigator in TSRIs Dorris Neuroscience Center, said in a statement. This method is rapid, robust and scalable. Therefore we hope that these induced sensory neurons will allow our group and others to identify new compounds that block pain and itch and to better understand and treat neurodegenerative disease and spinal cord injury.

Similarly, the HSCI-led study, which included experts from Boston Childrens Hospital (BCH) and Harvards Department of Stem Cell and Regenerative Biology (HSCRB), was able to successfully convert mouse and human skin cells into pain-sensing neurons that responded to several different types of stimuli responsible for causing both acute and inflammatory pain.

The authors of this study, which also appeared in Wednesdays online edition of Nature Neuroscience, said that their research could help scientists better understand the different types of pain that we experience, as well as better identify why people respond to pain in different ways and why some individuals are more or less likely to develop chronic pain. It could also result in the development of improved pain-relieving medications.

The six-year project resulted in the creation of neuronal pain receptors that respond to both the types of intense stimuli triggered by a physical injury, and the more subtle stimuli triggered by inflammation which results in pain tenderness. The researchers report that the fact the neurons can respond to both the gross and fine forms of stimulation which produce separate types of pain in humans confirm that they are functionally normal.

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Pain-Sensing Neurons Created From Human, Mouse Skin Cells

PUBLIC RELEASE DATE:

24-Nov-2014

Contact: Jen Middleton jen.middleton@ed.ac.uk 44-131-650-6514 University of Edinburgh @uniofedinburgh

Liver disease patients could be helped by a new cell therapy to treat the condition.

Researchers from the University of Edinburgh have received funding to start testing the therapy in patients within the next year.

It will be the world's first clinical trial of a new type of cell therapy to treat liver cirrhosis, a common disease where scar tissue forms in the organ as a result of long-term damage.

The Edinburgh team has received funding from the Medical Research Council and Innovate UK to investigate the disease, which claims 4000 lives in the UK each year.

The only successful treatment for end-stage liver cirrhosis at present is an organ transplant. The new therapy is based on a type of white blood cell called a macrophage, which is key to normal repair processes in the liver.

Macrophages reduce scar tissue and stimulate the liver's own stem cells to expand and form into healthy new liver cells.

Scientists will take cells from the blood of patients with liver cirrhosis and turn them into macrophages in the lab using chemical signals.

Continue reading here:
Cell therapy trial offers new hope to liver disease patients

Freeport, Grand Bahama (PRWEB) November 25, 2014

Okyanos, the leader in cell therapy, announced the adoption of body-jet eco for use in the harvesting of adult stem cells for use in cell therapy. The Okyanos procedure begins with the extraction of a small amount of body fat, a process done using advanced water-jet assisted liposuction technology. The body-jet eco system is utilized during this procedure and allows a larger number of viable adult stem cells to be harvested. After separating the cells from fat tissue, the Okyanos medical doctor immediately injects these cells into and around the area needing treatment allowing targeting of the cells to repair damaged tissue.

According to Dr. Todd Malan, Chief Cell Therapy Officer and General Surgeon at Okyanos, who was involved in helping develop the appropriate settings of the body-jet eco use in adult stem cell harvesting, The body-jet eco was used during our first stem cell procedure at Okyanos. It performed flawlessly as expected and we feel it meets our tough standards. This is much gentler and more precise, making the overall procedure faster with less trauma to the surrounding tissue and less diversion of the adult stem cells from the intended area.

The body-jet eco is part of the water-jet assisted liposuction (WAL) family of devices, which detaches the fat gently from the tissue structure using a flat, fan-shaped water jet spray. The surrounding connective tissue, nerves and blood vessels remain in-tact which makes this procedure much gentler on the patient and leads to a quicker recovery with less pain medication required. The WAL process has a very high viability of fat cells and stem cells with a high take rate after fat grafting. The WAL family of devices is manufactured by human med AG with its headquarters in Schwerin, Germany, and distributed in North America by CAREstream America with its headquarters in Altamonte Springs, Florida.

Because the treatment is minimally invasive it requires that patients be under only moderate sedation. Post-procedural recovery consists of rest in a private suite for several hours that comfortably accommodates up to 3 family members.

Patients can contact Okyanos at http://www.okyanos.com or by calling toll free at 1-855-659-2667.

About CAREstream America: CAREstream America began in 2013 and is a division of CAREstream Medical Ltd, which has serviced Canadian customers respiratory and anesthesia needs for over 15 years. CAREstream America retains North American distribution rights to the full water-jet assisted human med AG product line. CAREstream America is the premier distributor of Aesthetic product lines ranging from water-jet assisted technology to vascular access imaging to nitrous oxide analgesia which help shape the body, showcase the veins and relieve the pain and anxiety of aesthetic procedures.

About Dr. Malan: Todd Malan, MD, serves as the Chief Cell Therapy Officer and General Surgeon at Okyanos Heart Institute, overseeing the liposuction and stem cell isolation step of the Okyanos cardiac cell therapy process. Known as an innovative cosmetic surgeon, Dr. Malans practices combine the most progressive and minimally-traumatic liposuction technologies available. A pioneer of fat-derived stem cell therapies, he became the first physician in the US to utilize stem cells from fat for soft tissue reconstruction in October, 2009, combining water-assisted liposuction, fat transfer and adult stem cell technologies.

About Okyanos: (Oh key AH nos) Based in Freeport, Grand Bahama, Okyanos brings a new standard of care and a better quality of life to patients with coronary artery disease, tissue ischemia, autoimmune diseases, and other chronic neurological and orthopedic conditions. Okyanos Cell Therapy utilizes a unique blend of stem and regenerative cells derived from patients own adipose (fat) tissue which helps improve blood flow, moderate destructive immune response and prevent further cell death. Okyanos is fully licensed under the Bahamas Stem Cell Therapy and Research Act and adheres to U.S. surgical center standards. The literary name Okyanos, the Greek god of the river Okyanos, symbolizes restoration of blood flow.

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Okyanos Adopts WAL/ body-jet eco for Use in Cell Therapy

PUBLIC RELEASE DATE:

24-Nov-2014

Contact: Sophia Haque Sophia.Haque@rhul.ac.uk 44-178-444-3552 Royal Holloway, University of London @RoyalHolloway

Scientists have discovered a gene that protects people against one of the major causes of stroke in young and middle-aged adults and could hold the key to new treatments.

Researchers from Royal Holloway, University of London, together with an international team from across the United States and Europe, have found that people with a specific variant of a gene, known as PHACTR1, are at reduced risk of suffering cervical artery dissection, which is caused by a tear in an artery that leads to the brain.

The new discovery, published in the journal Nature Genetics, could lead to new treatments and prevention strategies for the disease, which is a major cause of stroke in young adults. The same gene variant has also been identified as a protector against migraines and affects the risk of heart attack.

Professor Pankaj Sharma, from the School of Biological Sciences at Royal Holloway, said: "This is an important breakthrough. Our findings provide us with a greater understanding of how this region of the genome appears to influence key vascular functions, which could have major implications for the treatment of these severe and disabling conditions. "

In the largest study of its kind ever undertaken, researchers from around the world screened the entire genome of 1,400 patients with cervical artery dissection, along with 14,400 people without the disease. Cervical artery dissection can lead to compression of adjacent nerves and to blood clotting, potentially causing blockage of vessels and brain damage.

Professor Sharma, Professor of Clinical Neurology at Royal Holloway, added: "Further genetic analyses and worldwide collaborations of this kind provide hope of pinpointing the underlying mechanisms that cause stroke. The Bio-Repository of DNA in Stroke (BRAINS) study I am leading is creating a large stroke DNA biobank which will give an exciting opportunity to identify the genes directly linked to the condition."

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New research discovers gene that reduces risk of stroke

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25-Nov-2014

Contact: Press Office pressoffice@leeds.ac.uk 01-133-434-031 University of Leeds @universityleeds

Researchers at the University of Leeds have shed light on a gene mutation linked to autistic traits.

The team already knew that some people with autism were deficient in a gene called neurexin-II. To investigate whether the gene was associated with autism symptoms, the Leeds team studied mice with the same defect.

They found behavioural features that were similar to autism symptoms, including a lack of sociability or interest in other mice.

Dr Steven Clapcote, Lecturer in Pharmacology in the University's Faculty of Biological Sciences, who led the study published in the journal Translational Psychiatry today, said: "In other respects, these mice were functioning normally. The gene deficiency mapped closely with certain autism symptoms."

Dr Clapcote added: "This is exciting because we now have an animal model to investigate new treatments for autism."

The researchers also looked at how the absence of neurexin-II was affecting the brain.

Co-author Dr James Dachtler, Wellcome Trust Junior Investigator Development Fellow in the Faculty of Biological Sciences at Leeds, said: "We found that the affected mice had lower levels of a protein called Munc18-1 in the brain. Munc18-1 usually helps to release neurotransmitter chemicals across synaptic connections in the brain, so neurotransmitter release could be impaired in the affected mice and possibly in some cases of autism."

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Missing gene linked to autism

Genetic Engineering: The Super Banana
Project for APES. By Sydney Hsueh and Jenny Lee.

By: Sydney Hsueh

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Genetic Engineering: The Super Banana - Video

PUBLIC RELEASE DATE:

24-Nov-2014

Contact: Kathryn Ryan kryan@liebertpub.com 914-740-2100 Mary Ann Liebert, Inc./Genetic Engineering News @LiebertOnline

New Rochelle, NY, November 24, 2014--Genetically engineered pigs, minipigs, and microminipigs are valuable tools for biomedical research, as their lifespan, anatomy, physiology, genetic make-up, and disease mechanisms are more similar to humans than the rodent models typically used in drug discovery research. A Comprehensive Review article entitled "Current Progress of Genetically Engineered Pig Models for Biomedical Research," describing advances in techniques to create and use pig models and their impact on the development of novel drugs and cell and gene therapies, is 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 at http://online.liebertpub.com/doi/full/10.1089/biores.2014.0039.

Gkhan Gn and Wilfried Kues, Friedrich-Loeffler-Institute (Neustadt, Germany), Istanbul Technical University, and Istanbul University Faculty of Veterinary Medicine (Turkey), discuss the technologies that have made it possible to develop transgenic pig models of human diseases, such as targeted gene transfer and genome sequencing. The authors review current progress in creating transgenic pig models for cancer, cardiovascular diseases, diabetes, neurodegenerative diseases, ophthalmology, and xenotransplantation. These models will enable researchers to study disease processes, identify new drug targets, test novel cell therapies to restore diseased tissues and organs, and assess methods to correct or replace mutated genes.

"This review provides an excellent update of recent progress in the field of pig transgenics for biomedical research," says BioResearch Open Access Editor Jane Taylor, PhD, MRC Centre for Regenerative Medicine, University of Edinburgh, Scotland.

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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 at http://www.liebertpub.com/biores.

About the Publisher

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New treatments for cancer, diabetes, and heart disease -- you may have a pig to thank

With an MBA from the University of Chicago (2006) and an MSc from the Compigne University of Technology (1997), David Del Bourgo has combined education in management and biomedical engineering. He has acquired 17 years of experience in marketing and sales development within the healthcare industry.

Before joining Genomic Vision, David Del Bourgo was VP Sales and Marketing at Theraclion, which specializes in therapeutic ultrasound equipment. After joining the company in 2009, he instigated Theraclions marketing strategy, developed the network of key opinion leaders and deployed the direct and indirect sales of an innovative echotherapy solution, which established the company as a major player in the treatment of tumors by ultrasound.

From 2006 to 2009, David was Director of Corporate Development and Marketing at Orbotech, a NASDAQ-listed Israeli electronics company, where he notably contributed to the growth of their medical division and led the acquisition of a Danish company specializing in nuclear cardiology (turnover of $30 million). His other positions have included Manager in Strategic Consulting at Advention Business Partners (2005-2006) and various positions at General Electric Healthcare, where he was initially a researcher (1997) before being appointed International Product Marketing Manager (2001-2003).

At Genomic Vision, Davids mission has begun with the setting up of a Sales and Marketing team, which is already operational, consisting of product specialists and a field team whose aim will be to promote the Companys innovative genetic tests among the main European diagnostic centers.

Aaron Bensimon, Genomic Visions co-founder and Chairman, says: We are very pleased to be able to count on a manager with such experience at Genomic Vision. David and his team are highly driven by their objective of deploying our international marketing strategy. His expertise and knowledge of the sector represent real assets in identifying sales opportunities for the genetic tests we are developing, and notably those targeting breast and colon cancer, which are scheduled to be launched in 2015.

Next financial press release

ABOUT GENOMIC VISION A spinoffof the Institut Pasteur, Genomic Vision is a molecular diagnostics company specialized in developing diagnostic tests for genetic diseases and cancers. Using molecular combing, an innovative technology that allows the direct visualization of individual DNA molecules, Genomic Vision detects quantitative and qualitative variations in the genome that are at the origin of numerous serious pathologies. Having benefited from the financial support of the Institut Pasteur, SGAM AI, Vesalius Biocapital and Quest Diagnostics, the Company is developing a solid portfolio of tests that notably target breast cancer and cancer of the colon. Since 2013, the Company has marketed the CombHeliX FSHD test for identifying a myopathy that is difficult to detect, Facio-scapulo-humeral dystrophy (FSHD), in the United States thanks to a strategic alliance with Quest Diagnostics, the American leader in diagnostic laboratory tests, and in France.

ABOUT MOLECULAR COMBING DNA molecular combing technology considerably improves the structural and functional analysis of DNA molecules. DNA fibers are stretched out on glass slides, as if combed, and uniformly aligned over the whole surface. It is then possible to identify genetic anomalies by locating genes or specific sequences in a patients genome using genetic markers, an approach developed by Genomic Vision and patented under the name Genomic Morse Code. This exploration of the entire genome at high resolution via a simple analysis enables the direct visualization of genetic anomalies that are undetectable by other technologies.

For further information, please go to http://www.genomicvision.com

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Genomic Vision Appoints David Del Bourgo as Head of Sales and Marketing

A Newcastle research centre has been renamed in honour of a North East expert in muscular dystrophy and related neuromuscular conditions.

The John Walton Muscular Dystrophy Research Centre, which is part of the Institute of Genetic Medicine at Newcastle University, officially adopted its new name yesterday.

Born in Rowlands Gill, Lord Walton qualified from Newcastle Medical School, and went on to become both a consultant neurologist and professor of neurology in Newcastle, and from 1971-1981 was Dean of Medicine at the University.

The 92-year-old has spent his career helping improve the lives of people with muscle-wasting conditions, as well as other neurological conditions, first through medicine and then through Parliamentary campaigning.

Lord Walton said: I am deeply touched and honoured that it was decided that the centre should be called after me. It is more than 60 years since I began work on muscular dystrophy here in Newcastle and it is thrilling to see the way in which a whole area of research and management of patients has matured and developed.

I have often said that I am a simple Geordie lad, born in Rowlands Gill, brought up in this area, my father a school teacher, my mother a school teacher, my grandfather a miner, and to have been able to be at the forefront of the developments of muscular dystrophy is very exciting.

Newcastle and its reputation in the whole field of muscular dystrophy research stands very high in the world and that is something which I personally, and all the team, have every right to be proud of.

The John Walton Muscular Dystrophy Research Centre is a collaboration between Newcastle University and Newcastle Hospitals NHS Foundation Trust.

Pioneering research is carried out at the centre to develop treatments to help those with the debilitating condition.

Kate Bushby, professor of genetics at Newcastle University said: The renaming of the centre is very exciting. Lord Walton laid the foundation for the whole speciality of muscular dystrophy and he raised the profile of the condition; he started the research and he got the initial funding from the different charities and medical research council.

The rest is here:
Newcastle research centre renamed in honour of muscular dystrophy expert

PUBLIC RELEASE DATE:

25-Nov-2014

Contact: Amy Blustein ablustein@wihri.org 401-681-2822 Women & Infants Hospital @womenandinfants

There has been much recent debate on the benefits and risks of screening for breast cancer using BRCA1 and BRCA2 mutations in the general adult population. With an estimated 235,000 new breast cancer diagnoses each year in the U.S. and more than 40,000 deaths, it is clearly important to be able to determine which women may be genetically predisposed to breast cancer.

Glenn E. Palomaki, PhD, associate director of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital of Rhode Island has recently published an invited commentary in the November issue of Genetics in Medicine. The commentary is entitled "Is it time for BRCA1/2 mutation screening in the general adult population? Impact of population characteristics."

A family history of breast or ovarian cancer or a personal history of early-onset cancer are strong risk factors for breast cancer. Systematic criteria when caring for a patient with a positive family history have been well established by such agencies as the U.S. Preventive Services Task Force and the National Comprehensive Cancer Network.

Dr. Palomaki said, "With the identification of the tumor suppressor genes BRCA1 and BRCA2 in the 1990s, the scientific community has extensively explored both the personal and population impact of carrying a deleterious mutation in these genes. Any new population-based screening test, such as testing for BRCA1 and BRCA2 mutations, requires consideration of key performance characteristics that evaluate both strengths and shortcomings before its introduction."

In his commentary, Dr. Palomaki cited two recent publications that present perspectives on routine, population-based screening for breast cancer using BRCA1/2 mutations in different populations.

"Together, these two publications offer an unusual opportunity to compare and contrast how distinct population differences, such as the mutations carrier rate, might influence the feasibility of population-based screening," said Dr. Palomaki. "Because founder mutations are more common in Ashkenazi Jewish women, are more easily identified and account for a higher proportion of all breast cancer cases, pilot trials in that population are indicated before launching widespread screening in Israel to identify and resolve implementation issues. Such screening in the United States, however, is more complicated, tilting the balance away from routine population screening, as least for the moment."

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Pathology specialist contributes to debate on breast cancer gene screening

PUBLIC RELEASE DATE:

25-Nov-2014

Contact: Gina DiGravio ginad@bu.edu 617-638-8480 Boston University Medical Center @BostonUNews

(Boston)-- In the largest study of the genetics of memory ever undertaken, an international researcher team including scientists from Boston University School of Medicine (BUSM), have discovered two common genetic variants that are believed to be associated with memory performance. The findings, which appear in the journal Biological Psychiatry, are a significant step towards better understanding how memory loss is inherited.

Longer life spans and the increased prevalence of memory impairment and dementia world-wide underscore the critical public health importance of efforts aimed at deciphering the underlying mechanisms of human memory.

The Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium was developed to facilitate the study of the entire genome through pooling of data from research centers all across the world. Nearly 30,000 participants who did not have dementia were included in the study. Each participant completed memory tests, such as word recall, and their entire genome was genotyped. Using sophisticated statistical analysis, the genome was examined for segments that were associated with low memory scores.

The researchers found genetic variants near the Apolipoprotein E gene, known to harbor an increased risk of dementia (especially Alzheimer disease), were associated with poorer memory performance, mostly so in the oldest participants and for the short story recall. In a sub-study with post-mortem brain samples, participants with an increasing load of memory risk variants also had more pathological features of Alzheimer disease, perhaps reflecting in some instances early pre-clinical stages of the disease.

According to the researchers two additional regions of the genome, pointing to genes involved in immune response, were associated with the ability to recall word lists, providing new support for an important role of immune system dysfunction in age-related memory decline. "Interestingly genetic variants associated with memory performance also predicted altered levels of expression of certain genes in the hippocampus, a key region of the brain for the consolidation of information. These were mainly genes involved in the metabolism of ubiquitin that plays a pivotal role in protein degradation," explained lead author Stphanie Debette, MD, PhD, adjunct associate professor of neurology at BUSM.

This unprecedented world-wide collaboration has generated novel important hypotheses on the biological underpinnings of memory decline in old age, however the researchers caution that more research is clearly needed to confirm these findings. "The differential associations according to memory test characteristics and age should be accounted for in future studies. Exploring other types of genetic variation, including rare variants and epigenetic modifications, will be crucial to decipher the full spectrum of memory heritability," added Debette.

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Researchers shed new light on the genetics of memory performance

PUBLIC RELEASE DATE:

24-Nov-2014

Contact: Vanessa Wasta wasta@jhmi.edu 410-614-2916 Johns Hopkins Medicine @HopkinsMedicine

After mining the genetic records of thousands of breast cancer patients, researchers from the Johns Hopkins Kimmel Cancer Center have identified a gene whose presence may explain why some breast cancers are resistant to tamoxifen, a widely used hormone treatment generally used after surgery, radiation and other chemotherapy.

The gene, called MACROD2, might also be useful in screening for some aggressive forms of breast cancers, and, someday, offering a new target for therapy, says Ben Ho Park, M.D., Ph.D., an associate professor of oncology in the Kimmel Cancer Center's Breast Cancer Program and a member of the research team.

The drug tamoxifen is used to treat estrogen receptor-positive breast cancers. Cells in this type of breast cancer produce protein receptors in their nuclei which bind to and grow in response to the hormone estrogen. Tamoxifen generally blocks the binding process of the estrogen-receptor, but some estrogen receptor-positive cancers are resistant or become resistant to tamoxifen therapy, finding ways to elude its effects. MACROD2 appears to code for a biological path to tamoxifen resistance by diverting the drug from its customary blocking process to a different way of latching onto breast cancer cell receptors, causing cancer cell growth rather than suppression, according to a report by Park and his colleagues published online Nov. 24 in the Proceedings of the National Academy of Sciences.

Specifically, the team's experiments found that when the gene is overexpressed in breast cancer cells--producing more of its protein product than normal--the cells become resistant to tamoxifen.

One piece of evidence for the gene's impact was demonstrated when the Johns Hopkins scientists blocked MACROD2's impact in breast cancer cell cultures by using an RNA molecule that binds to the gene to "silence," or turn off, the gene's expression. But the technique only partially restored the cells' sensitivity to tamoxifen.

To conduct the study, the scientists examined two well-known databases of breast cancer patients' genetic information, The Cancer Genome Atlas and the Molecular Taxonomy of Breast Cancer International Consortium study. Patients who had MACROD2 overexpressed in primary breast cancers at the original breast cancer site had significantly worse survival rates than those who did not, according to an analysis of the patient databases.

With this in mind, the Johns Hopkins scientists suggest that clinicians may be able to look at MACROD2 activity to help them identify aggressive breast cancers at early stages of growth.

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Johns Hopkins scientists link gene to tamoxifen-resistant breast cancers

CSF Colloquium: "Chiari Heritable Connective Tissue Disorders - Genetics"
Help share more videos like this by supporting CSF: http://csfinfo.org/donate-online/ Dr. Allison Ashley-Koch talks more about the genetics of Chiari malformation and heritable connective tissue...

By: Chiari Syringomyelia Foundation

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CSF Colloquium: "Chiari & Heritable Connective Tissue Disorders - Genetics" - Video

CHAPTER 34 - Glaucoma and genetics Glaucoma Sensor

By: Geno Academy

Originally posted here:
CHAPTER 34 - Glaucoma and genetics Glaucoma Sensor - Video

Geoffrey Ondrich and Waylon Cude are both 16 years old. Both boys have autism, and both would rather use their computers than do almost anything else in the world.

But thats just about all they have in common.

Waylon is serious and intense, and so is the way he uses his computer: He spends hours immersed in online role-playing games, and he interned last summer at IBM, programming Linux for websites.

On a sunny Friday in October, he leans toward a computer monitor in a testing room at the University of Washington in Seattle, where he is part of a study on the genetics of autism. Waylon focuses diligently on his reaction-time test, frowning to himself when he makes a mistake. Throughout the day, he responds politely to questions, especially factual ones, but doesnt engage in chitchat or commentary. At one point, a clinician who has been testing Waylons motor skills remarks that he is almost as nimble at rearranging tiny plastic pegs with his left hand as he is with his dominant right. Waylon doesnt respond.

By contrast, when Geoffrey completes a task for the same study, he gets a few minutes on his iPad, his passport to fun and pleasure. He watches bits of a movie or scrolls through his collection of music until he finds a particular song with a catchy, disco-y beat, and dances happily in his chair.

When he doesnt have music to dance to, Geoffrey often rocks back and forth in his chair, slapping the top of his left wrist with his right hand. The clinician who is working with him struggles to engage his attention as Geoffrey picks up a plate from a toy tea set and peers at it closely. He bites the plate, then rolls a Matchbox car back and forth over the table in front of him.

Its no surprise that these two boys, at the same age and with the same diagnosis, are so different. Clinicians are fond of saying, If youve seen one kid with autism, youve seen one kid with autism, meaning that its impossible to draw conclusions by looking at just a few people.

This diversity has been a major hurdle for understanding autism and for coming up with treatments that can help a majority of people with the diagnosis. Most studies include individuals who share the same phenotype, or outward characteristics, but whose autism may arise from entirely different origins. Because of this, they often produce muddled results. We recognize autism is a really heterogeneous disorder and were not making a lot of headway when we try to study it as a heterogeneous disorder, says Thomas Frazier, director of the Cleveland Clinic Childrens Center for Autism.

A close look at DNA may provide a way through this muddle.

What weve learned in the last five years about the underlying genetics is that there are hundreds, if not a thousand or more, different genetic subtypes of autism, says geneticist David Ledbetter, chief scientific officer at Geisinger Health System in Danville, Pennsylvania.

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Chuck Bednar for redOrbit.com Your Universe Online

A new stem cell gene therapy developed by researchers at UCLA is set to begin clinical trials early next year after the technique reportedly cured 18 children who were born without working immune systems due to a condition known as ADA-deficient Severe Combined Immunodeficiency (SCID) or Bubble Baby disease.

The treatment was developed by Dr. Donald Kohn, a member of the UCLA Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, and his colleagues, and according to the university, it is able to identify and correct faulty genes by using the DNA of the youngsters born with this life-threatening condition.

Left untreated, ADA-deficient SCID is often fatal within the first year of a childs life, reports Peter M. Bracke for UCLA. However, after more than three decades of research, Dr. Kohns team managed to develop a gene therapy that can safely restore the immune systems of children with the disease by using their own cells and with no noticeable side effects.

All of the children with SCID that I have treated in these stem cell clinical trials would have died in a year or less without this gene therapy, instead they are all thriving with fully functioning immune systems, Dr. Kohn, who is also a professor of pediatrics and of microbiology, immunology and molecular genetics, said in a recent statement.

Children born with SCID have to be isolated in a controlled environment for their own safety, because without an immune system, they are extremely vulnerable to illnesses and infections that could be deadly. While there are other treatments for ADA-deficient SCID, Dr. Kohn noted that they are not always optimal or feasible for many children. The new technique, however, provides them with a cure, and the chance to live a full healthy life.

SCID is an inherited immunodeficiency that is typically diagnosed about six months after birth, the researchers said, and children with the condition are so vulnerable to infectious diseases that even the common cold could prove fatal to them. This particular form of the condition causes cells to not create ADA, an enzyme essential for the production of the white blood cells which are a vital component of a healthy, normally-functioning immune system.

Approximately 15 percent of all SCID patients are ADA-deficient, according to the university, and these youngsters are typically treated by being injected twice per week with the required enzyme. This is a process that must continue throughout a patients entire life, and even then it doesnt always work to bring their immune systems to optimal levels. Alternately, they could undergo bone marrow transplants from matched siblings, but those matches are rare and the transplanted cells themselves are often rejected by the childs body.

Dr. Kohn and his colleagues tested two therapy regimens on 18 ADA-deficient SCID over the course of two multi-year clinical trials starting in 2009. During the trials, the blood stem cells of the patients were removed from their bone marrow and genetically modified in order to correct the defect. All 18 of the patients were cured.

The technique used a virus delivery system first developed in Dr. Kohns laboratory in the 1990s a technique which inserts the corrected gene that produces the ADA into the blood forming stem cells in the bone marrow. The genetically corrected blood-forming stem cells will then produce the T-cells required to combat infections.

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New Stem Cell Treatment Found To Cure 'Bubble Baby' Disease