May 27 2013

Five stroke victims have shown small signs of recovery following pioneering stem cell therapy.

Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving.

The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes.

Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand.

"I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate, but it's much better than it was." He added: "I'd like to get back to playing my piano."

His wife Claire said: "He had reached a plateau and wasn't really improving (after his stroke). But following the operation he is able to do things he couldn't do before, such as make coffee, dressing and holding on to things."

The study involved patients who suffered strokes some time ago and had shown no signs of making any further spontaneous improvement.

Prof Muir said the results were "at the present time not what we would have expected in this group but far from being able to say whether it's something specifically related to the cells".

He told BBC Radio 4's Today programme: "We know that some of the cells will survive and potentially turn into relevant tissue. We also suspect that a large part of what we do is kick-starting repair processes that are already present in the body. So there's probably a mixture of things going on. Quite what it is that's happening in the patients, we won't know for some time to come."

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UK & World News: Stem cell therapy 'shows results'

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Five stroke victims have shown small signs of recovery following pioneering stem cell therapy.

Prof Keith Muir, of Glasgow University, said the results were "not what we would have expected" from the group of patients who had previously shown no indications of their conditions improving.

The trial involved injecting stem cells directly into the damaged parts of the patients' brains, with the hope that they would turn into healthy tissue or "kick-start" the body's own repair processes.

Frank Marsh, 80, one of the nine patients taking part in the trial at Glasgow's Southern General Hospital, told the BBC he had seen improvements in the use of his left hand.

"I can grip certain things that I never gripped before, like the hand rail at the baths, with my left hand as well as my right," he said."It still feels fairly weak and it's still a wee bit difficult to co-ordinate, but it's much better than it was." He added: "I'd like to get back to playing my piano."

His wife Claire said: "He had reached a plateau and wasn't really improving (after his stroke). But following the operation he is able to do things he couldn't do before, such as make coffee, dressing and holding on to things."

The study involved patients who suffered strokes some time ago and had shown no signs of making any further spontaneous improvement.

Prof Muir said the results were "at the present time not what we would have expected in this group but far from being able to say whether it's something specifically related to the cells".

He told BBC Radio 4's Today programme: "We know that some of the cells will survive and potentially turn into relevant tissue. We also suspect that a large part of what we do is kick-starting repair processes that are already present in the body. So there's probably a mixture of things going on. Quite what it is that's happening in the patients, we won't know for some time to come."

The stem cells were created 10 years ago from one sample of nerve tissue taken from a foetus.

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Stem cell therapy 'shows results'

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Project Walk Claremont - Jennifer B. Spinal Cord Injury Client
Jennifer B. suffered a T10/11 spinal cord injury in December of 2008. She is able to walk with arm crutches and AFO #39;s. Check out her form, core strength, and body alignment as she knocks out...

By: Project Walk

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Los Angeles, CA (PRWEB) May 25, 2013

IBISWorld estimates that revenue for the Cell Therapy industry will grow at an average annual rate of 28.7% to $1.0 billion in the five years to 2013, including growth of 17.9% in 2013. From 2002 and 2008, no new cell therapy products were introduced, according to IBISWorld industry analyst Kevin Culbert, causing relatively modest growth during that period. In the years since, however, the Food and Drug Administration (FDA) has approved six new products. This factor contributed to the industry's fast growth during the five years to 2013.

In 2011, the release of Dendreon's Provenge contributed to revenue growth of 59.5% during the year. The product got a significant boost when Medicare announced that it would cover the cost of reimbursement. In spite of this, the treatment's reception was expected to be considerably greater. Slow adoption was partially caused by the treatment's high sticker price (due to its high cost of development), a factor that has led many doctors to use alternative treatments, Culbert says. Industry operators have spent billions of dollars trying to develop a blockbuster treatment that will yield billions of dollars in return. Wage costs contribute significantly to the Cell Therapy industry s high operational costs. In 2013, for example, wages alone are expected to represent 118.5% of industry revenue, causing the industry to operate at a loss throughout its existence.

During that time, industry operators will benefit from the research and development (R&D) that has taken place over the past five years and the clinical trials that are currently in place. The industry will also benefit from the FDA's Safety and Innovation Act, which was signed into law in July 2012. The act will accelerate the approval process for drug manufacturers, including regenerative medicine products. In spite of this factor, industry firms are expected to continue operating at a loss over the next five years as vast sums of money are poured into R&D. In addition to Dendreon, current major players include Shire Pharmaceuticals, Organogenesis Inc. and NuVasive Inc.

The Cell Therapy industry has a high level of market share concentration. Given that the industry is in the growth stage of its life cycle and it typically takes a number of years to bring a product to market, there is a large number of smaller companies in the industry that are still in the product development stage and awaiting FDA approval. There are currently only about 40 cell therapy products available on the commercial market, according to the Alliance for Regenerative Medicine's annual report. Consequently, market share concentration is expected to decrease over the next five years as new products are introduced to the commercial market. For more information, visit IBISWorlds Cell Therapy in the US industry report page.

Follow IBISWorld on Twitter: https://twitter.com/#!/IBISWorld Friend IBISWorld on Facebook: http://www.facebook.com/pages/IBISWorld/121347533189

IBISWorld industry Report Key Topics

This industry engineers human tissue, also known as cell therapy or regenerative medicine. Tissue engineering is the use of a combination of cells, engineering and materials methods, and suitable biochemical and chemical factors to improve or replace biological functions. Key functions include repairing or replacing tissues (e.g. bone, cartilage, blood vessels and skin).

Industry Performance Executive Summary Key External Drivers Current Performance Industry Outlook Industry Life Cycle Products & Markets Supply Chain Products & Services Major Markets Globalization & Trade Business Locations Competitive Landscape Market Share Concentration Key Success Factors Cost Structure Benchmarks Barriers to Entry Major Companies Operating Conditions Capital Intensity Key Statistics Industry Data Annual Change Key Ratios

About IBISWorld Inc. Recognized as the nations most trusted independent source of industry and market research, IBISWorld offers a comprehensive database of unique information and analysis on every US industry. With an extensive online portfolio, valued for its depth and scope, the company equips clients with the insight necessary to make better business decisions. Headquartered in Los Angeles, IBISWorld serves a range of business, professional service and government organizations through more than 10 locations worldwide. For more information, visit http://www.ibisworld.com or call 1-800-330-3772.

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Slow Healing: Cell Therapy in the US Industry Market Research Report Now Available from IBISWorld

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Melbourne, May 26 (ANI): A new research has suggested that parenting could help protect babies from dangerous genes.

Australian scientists, who have recorded widespread changes in switches controlling gene activity in twins they studied from birth to 18 months old, noted that a healthy diet, loving parents and appropriate stimulation could "switch off" genes that present a risk of physical and mental illness.

It's the first 1000 days that matter most, the scientists stated, according to News.com.au.

In a phenomenon known as epigenetics, these switches are thought to control healthy development, but can be changed by environmental factors such as diet, lifestyle and toxic chemicals.

Surprisingly, the scientists found some twins can become more epigenetically similar over time.

They believe this could be because they might have been in different sacs in the womb and then experience the same home environment.

Their research published in the journal Genome Biology demonstrted gene switches change rapidly after birth.

"The research will help us work out the extent to which early environments can change our genes and how one day we may be able to change them back," said Dr Jeff Craig from the Murdoch Childrens Research Institute in Melbourne.

Dr Craig stated that he and colleague Dr Richard Saffery are "asking fundamental questions about what makes us what we are. Are we products of our genetics or are we a product of our environment."

They believe twins are the best group of people to help work this out because identical twins have the same DNA.

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Loving parents can 'switch off' risky genes

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The researchers used gene expression patterns to try to predict the time of death for each person in the study (inner circles), and then compared it with the actual time of death (outer circles). The two matched closely in healthy people, as shown by the short lines between the two points in the left diagram. But in depressed people, the two were out of sync, as seen with the longer lines at right. (Courtesy University of Michigan)

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But new research shows that the clock may be broken in the brains of people with depression even at the level of the gene activity inside their brain cells.

Its the first direct evidence of altered circadian rhythms in the brain of people with depression, and shows that they operate out of sync with the usual ingrained daily cycle. The findings, in the Proceedings of the National Academy of Sciences, come from scientists from the University of Michigan Medical School and other institutions.

The discovery was made by sifting through massive amounts of data gleaned from donated brains of depressed and non-depressed people. With further research, the findings could lead to more precise diagnosis and treatment for a condition that affects more than 350 million people worldwide.

Whats more, the research also reveals a previously unknown daily rhythm to the activity of many genes across many areas of the brain expanding the sense of how crucial our master clock is.

In a normal brain, the pattern of gene activity at a given time of the day is so distinctive that the authors could use it to accurately estimate the hour of death of the brain donor, suggesting that studying this stopped clock could conceivably be useful in forensics. By contrast, in severely depressed patients, the circadian clock was so disrupted that a patients day pattern of gene activity could look like a night pattern and vice versa.

The work was funded in large part by the Pritzker Neuropsychiatric Disorders Research Fund, and involved researchers from the University of Michigan, University of Californias Irvine and Davis campuses, Weill Cornell Medical College, the Hudson Alpha Institute for Biotechnology, and Stanford University.

The team uses material from donated brains obtained shortly after death, along with extensive clinical information about the individual. Numerous regions of each brain are dissected by hand or even with lasers that can capture more specialized cell types, then analyzed to measure gene activity. The resulting flood of information is picked apart with advanced data-mining tools.

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ANN ARBOR: Brain study shows internal clocks of depressed people are altered at cell level

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By Dr Ellie Cannon

PUBLISHED: 16:00 EST, 25 May 2013 | UPDATED: 16:00 EST, 25 May 2013

Saving surgery: Actress Angelina Jolie had a double mastectomy after discovering the BRCA1 gene

Since Hollywood star Angelina Jolie revealed she had undergone a preventative mastectomy, newspapers have been awash with further reports and case studies of women opting for such radical surgery.

It also emerged last week that a British father underwent similar pre-emptive surgery in his case, having his prostate removed after discovering that he carries a defective gene that boosts his risk of cancer.

This was a landmark case but it also raises many questions for men and about the future of genetic testing.

How does the BRCA gene affect men?

There are two BRCA genes, known as BRCA1 and BRCA2.

We know that in women these confer a risk of breast and ovarian cancer. More recent research has looked at the effects of these genes on men.

What emerged from the most recent studies is that BRCA2 particularly seems to be associated with a much higher chance of developing aggressive prostate cancer.

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Could MEN need surgery to beat Angelina Jolie's cancer gene?

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Scientists from North-East help discover gene linked to hole-in-the-heart babies

6:00pm Sunday 26th May 2013 in News By Barry Nelson, Health Editor

A NEW gene associated with congenital heart disease in babies - known as "a hole in the heart" - has been discovered by researchers, including scientists from the North-East.

British Heart Foundation Professor Bernard Keavney, from Newcastle University and Manchester University, led the research which saw investigators from Newcastle, Nottingham, Oxford and Leicester universities in the UK, together with colleagues in Europe, Australia and Canada pool resources.

The discovery, published in Nature Genetics, will help lead to better understanding of why some patients are born with the disorder.

Congenital heart disease (CHD) is the most common form of congenital malformation, occurring in seven in 1000 babies born and is one of the major causes of childhood death and illness.

Most patients born with CHD now survive to adulthood, so identifying the responsible genes is important as experts attempt to provide genetic counselling for these people.

In about 20 per cent of cases, a predisposing cause can be identified, for example Down's Syndrome, but in the remainder of patients, although genes are recognised to be important, scientists do not know the identity of these genes.

The study, funded by the BHF and the Wellcome Trust, looked at over 2,000 CHD patients and over 5,600 people in good health who acted as a control group.

The researchers found a relationship between a particular region of the human genome and risk of atrial septal defect (ASD) - a "hole" between the heart's blood-collecting chambers, Professor Keavney said this was an important step forward. "ASD is one of the most common forms of congenital heart disease, and it carries a risk of heart failure and stroke. We estimated that around 10 per cent of ASDs may be due to the gene we found."

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Scientists discover new gene linked to hole-in-the-heart babies

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26 May 2013 Last updated at 13:12 ET

A gene associated with a form of congenital heart disease found in newborn babies has been discovered by researchers.

The team, led by Professor Bernard Keavney from Newcastle University, analysed more than 2,000 children born with "a hole in the heart".

Mr Keavney said larger studies would be necessary but it was hoped finding the link would aid treatment.

The British Heart Foundation (BHF) said the results were "important".

Staff from universities in Manchester, Nottingham, Oxford and Leicester were also involved.

Mr Keavney said finding the gene was "an important step forward".

"We found that a common genetic variation near a gene called Msx1 was strongly associated with the risk of a particular type of congenital heart disease called atrial septal defect or hole in the heart," he said.

The research, which was part-funded by the BHF, is being published in the Nature Genetics journal.

Dr Shannon Amoils, senior research advisor for the BHF, said: "Most babies born with a heart defect have a much brighter future now than they would have had in the 1960s when the BHF was founded.

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Researchers find heart disease gene

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March Against Monsanto: Global protest challenges biotech giant
The March Against Monsanto has seen millions in 436 cities in 52 countries challenging biotech corporations and protesting against genetically modified foods...

By: RT

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March Against Monsanto: Global protest challenges biotech giant - Video

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Richmond, Vt.

The Vermont House voted earlier this month to approve H112, a bill that requires the labeling of foods sold in Vermont that have been produced using genetic engineering technology. The 99-42 vote came after weeks of wide-ranging committee testimony by legal experts, scientists, farmers, state and federal officials, and diverse industry and public interest organizations. The committees reviewed legal briefs, scientific studies and federal regulations.

Legislators concluded that because the risks posed by genetically engineered foods to human health and the environment are poorly understood and poorly regulated that the state should require food produced with genetic engineering to be labeled.

Cass Sunstein, a Harvard law professor and Bloomberg View columnist, comes to a different conclusion in an op-ed published in the May 14 Valley News (Dont Mandate Labels for Foods with Gene-Altered Ingredients). Sunstein believes that mandatory labeling is unwise because it would mislead and alarm consumers about the safety of genetically engineered foods and cause economic damage. He accepts the conclusions of those official organizations who say that genetically engineered foods are as safe as any other foods. Unless science can identify a legitimate concern about risks to health or the environment, the argument for compulsory (genetically modified) labels rests on weak foundations, Sunstein writes.

Apparently, he is unaware of the facts and the growing number of international scientific studies that raised such legitimate concerns among Vermont lawmakers.

Just one example: About 90 percent of the corn grown in the U.S. has been genetically engineered to produce its own insecticidal toxin (Bt toxin). These toxins are found in every bite of hundreds of foods on our market shelves that contain ingredients derived from corn. And yet, in field and laboratory studies, Bt toxins have been shown to be allergenic. (The Food and Drug Administration and EPA approved Bt corn in 1996 without adequate health and environmental safety testing.) In 2011, researchers in Quebec found Bt toxins in the blood of 93 percent of pregnant women tested and in 80 percent of fetal cord blood. Given the potential toxicity of these environmental pollutants and the fragility of the fetus, more studies are needed, the researchers concluded.

And just last month, in another peer-reviewed paper, Brazilian researchers reported that the Bt toxin is toxic to bone marrow and blood of laboratory mice, and that taking into account the increased risk of human and animal exposures to significant levels of these toxins, especially through diet ... further studies are required ... before concluding that (Bt toxins) are safe for mammals.

So, is there scientific uncertainty and reason for legitimate concern about the safety of Bt corn and foods that are made from it? You bet. And you dont have to be a scientist to connect the dots. There are many other examples in the scientific literature more of them all the time that raise serious questions about the safety of genetically engineered foods and the adequacy of government regulation of related health and environmental risks.

And it turns out that even some of the official organizations that Sunstein states are firmly convinced of the safety of genetically engineered foods now seem to be not so sure. In June 2012, the American Medical Association, after reviewing recent studies concerning the safety of genetically engineered foods, called for mandatory FDA premarket safety assessments of such foods as a preventive measure to ensure the health of the public. (Most people dont realize that the FDA does not conduct such tests, but instead relies on voluntary reporting of tests and studies conducted or funded by the companies that develop and sell the foods.) The AMA also urged the FDA to remain alert to new data on the health consequences of bioengineered foods.

In a 2004 report on the safety of genetically engineered foods, the National Research Council and Institute of Medicine called for a significant research effort ... to develop new methods and dietary survey tools to detect health changes in the population that could result from genetic modification and, specifically, genetic engineering of food. To date, these new methods have not been adopted, but, as a number of scientists have pointed out, labeling genetically engineered foods would greatly assist epidemiologists in detecting subtle health effects in the population.

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Column: Valid Concerns About Genetically Altered Food Justify Labeling

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David Hallett

The Christchurch March Against Monsanto down Riccarton Road ending with speeches in Sands Cres.

Hundreds of people marched down Riccarton Rd and obstructed traffic to protest against genetically modified crops yesterday.

The protests in Christchurch are part of nationwide marches against American genetic engineering agricultural giant Monsanto.

Fewer and fewer companies control more and more of our food chain and their interests are in making money, not feeding people good food, said Green Party genetic engineering spokesman Steffan Browning, who led the march from the intersection of Riccarton Rd and Deans Ave to Shand Cres.

Monsanto is one of the most dominant companies in the food supply. They are focused on pushing genetic engineering and have a terrible reputation for suing farmers and influencing countries laws.

We need a food system that works in the interests of people, not corporations. The huge support for this global action shows that the people want a better way.

A policeman struggled to keep the protesters on the footpath, while several motorists tooted their support.

I dont like that they are messing with nature, said protester Lisa Tulk, who came into the city from Little River for the protest.

She was also concerned about the possible carcinogenic properties of genetically modified crops that were pesticide resistant.

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Rally against GE crops

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Jonathan Flint: Psychiatric Genetics
It is now known that genetic variants can form the basis of psychiatric disorders, such as depression and anxiety. Professor Jonathan Flint is investigating the genetics behind psychiatric...

By: OxfordNDM

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Jonathan Flint: Psychiatric Genetics - Video

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How Genetics Play a Part in Gum Disease
http://drrotem.com ...A CBS News article indicates that the possibility of hereditary gum disease may be caused by reduced levels of a particular key enzyme known as... http://drrotem.com/blog/ti...

By: Dave Rotem

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How Genetics Play a Part in Gum Disease - Video

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Looks aren #39;t everything. Believe me, I #39;m a model - Cameron Russell
View full lesson: http://ed.ted.com/lessons/looks-aren-t-everything-believe-me-i-m-a-model-cameron-russell Cameron Russell admits she won "a genetic lottery"...

By: TED-Ed

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India, May 26 -- The All India Institute of Medical Sciences (AIIMS) is set to advance stem cell research for Multiple Sclerosis (MS), a disease that attacks the central nervous system.

"A proposal will soon be sent to the Stem Cell Ethics Committee at the hospital to conduct both epidemiological and therapeutic study using conventional drugs and studies related to stem cell therapy for the disease," said Dr Rohit Bhatia, additional professor of neurology at AIIMS.

A proposal for hematopoietic stem cell transplant has already been submitted for ethics clearance and for mesenchymal stem cell therapy. The proposal will be soon sent for clearance and funding.

"We have proposed a therapeutic study for multiple sclerosis which involves removing the cells with stem cells that repopulate the body to treat the abnormality due to expansion of autoreactive cells," said Dr Kameshwar Prasad, Professor of Neurology, AIIMS.

Though it is know that multiple sclerosis is common among people from temperate or colder climes, a study conducted by AIIMS showed that such cases were increasing in India as well.

According to the study, of 101 patients at the hospital between June 2011 to December 2012, it was proved that ratio of female patients to male was 6:4 - 61 female patients and 40 male. It was also proved that 30% of the patients were moderately disabled and about 60% had episodic relapses with the rest of the cases being progressive in nature.

The patients with extreme cases were between the age group 20-40.

Published by HT Syndication with permission from Hindustan Times.

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Advanced Sclerosis research at AIIMS soon

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My Spinal Cord Injury - The full story - Dealing with Adversity - Bradley Hill
A full version of what happened to me and how I dealt with my spinal cord injury and how I rebuilt my life.

By: Bradley Hill

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My Spinal Cord Injury - The full story - Dealing with Adversity - Bradley Hill - Video

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Gene Meyer has led Lawrence Memorial Hospital through one of its most successful periods, when it expanded significantly and was recognized for everything from financial performance to cancer research.

In helping to create a high-quality medical center for people in the area, Meyer was honored with the Lawrence Kiwanis Club's Substantial Citizen Award in a ceremony Thursday at the Lawrence Country Club. Since 1960, the recognition has been bestowed annually upon residents who have made a difference in the community.

Guy Dresser, chairman of the Substantial Citizen Committee, said Meyer has done just that, helping to save lives and improve the health of Lawrencians through his solid leadership. Dresser said the committee chose Meyer "based on his professional achievement and his significant contribution to the community."

Photo by Mike Yoder

Gene Meyer, president and chief executive officer of Lawrence Memorial Hospital, left, and his wife, Carol, right, visit with Julie Hack on Thursday at the Lawrence Country Club. Meyer was presented with the 2013 Kiwanis Substantial Citizen Award at the Lawrence Kiwanis Club luncheon.

Meyer became president and CEO of Lawrence Memorial Hospital in 1997. He has since gone on to serve in several professional and civic organizations, including the Lawrence Chamber of Commerce, Lawrence Noon Rotary Club, Commerce Bank and Kansas Hospital Association.

This isn't Meyer's first award from the community or beyond. In 2011, he was inducted into the Lawrence Business Hall of Fame and got the American Hospital Association's Grassroots Champion Award. Nine years before that, Baker University named him Lawrence Business Person of the Year.

"Giving back to our community is vitally important and we all share in that mission. At LMH, we try to share in that every day," Meyer said. "We need to be a community service, and we are."

Meyer, who is married with four children and two grandkids, has helped LMH receive awards from several state and national health care organizations, including its being named a top-100 hospital in America by Truven Health Analytics. During his reign, the facility has also received marks for safety, employee satisfaction, technological capability and cancer research, as well as heart attack, pneumonia and surgical care. Last year, LMH became one of the smallest hospitals in the country to earn an A1 long-term bond rating from Moody's Investors Service.

"It's not the awards we get on the wall," Meyer acknowledged. "It's how we do when you're there for care."

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CEO Gene Meyer honored for leading Lawrence Memorial Hospital to success

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Washington, May 23 (ANI): A global team of scientists has completed the largest sequencing study of human disease to date, investigating the genetic basis of six autoimmune diseases.

The exact cause of these diseases - autoimmune thyroid disease, coeliac disease, Crohn's disease, psoriasis, multiple sclerosis and type 1 diabetes- is unknown, but is believed to be a complex combination of genetic and environmental factors.

In each disease only aproportion of the heritability is explained by the identifiedgenetic variants. The techniques used to date, have generally identified common (in the population) variants of weak effect.

In this study, using high-throughput sequencing techniques, the team led by researchers from Queen Mary, University of London, sought to identify new variants, including rare and potentially high risk ones, in 25 previously identified risk genes in a sample of nearly 42,000 individuals (24,892 with autoimmune disease and 17,019 controls).

It has been suggested - in the 'rare-variant synthetic genome-wide association hypothesis' - that a small number of rare variants in risk genes are likely to be a major cause of the heritability of these conditions.

However, the study suggests that the genetic risk of these diseasesmore likely involves a complex combination of hundreds of weak-effect variants which are each common in the population.

The authors estimate that rare variants in these risk genes account for only around three per cent of the heritability of these conditions that can be explained by common variants.

"These results suggests that risk for these autoimmune diseases is not due to a few high-risk genetic variations but seems rather due to a random selection from many common genetic variants which each have a weak effect," said David van Heel, Professor of Gastrointestinal Genetics at Barts and The London School of Medicine and Dentistry at Queen Mary and director of the Barts and The London Genome Centre, who led the study.

"For each disease there are probably hundreds such variants and the genetic risk is likely to come from inheriting a large number of these variants from both parents. If this is the case then it may never be possible to accurately predict an individual's genetic risk of these common autoimmune diseases. However, the results do provide important information about the biological basis of these conditions and the pathways involved, which could lead to the identification new drug targets," he noted.

The research utilised high-throughput sequencing techniques performed at the Barts and The London Genome Centre and demonstrated for the first time that the sequencing can call genotypes as accurately as 'gold standard techniques' such as genotyping array platforms.

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Largest genetic sequencing study of human disease completed

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Public release date: 24-May-2013 [ | E-mail | Share ]

Contact: Mount Sinai Press Office newsmedia@mssm.edu 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

Two mutations central to the development of infantile myofibromatosis (IM)a disorder characterized by multiple tumors involving the skin, bone, and soft tissuemay provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai. The findings, published in the American Journal of Human Genetics, may lead to new treatment options for this debilitating disease, for which the only current treatment option is repeated surgical removal of the tumors.

IM is an inheritied disorder that develops in infancy or even in utero and tumors continue to present throughout life. The tumors do not metastasize, but can grow large enough to invade the tissue surrounding them causing physical limitations, disfiguration, bone destruction, intestitinal obstruction, and even death. Currently, the standard of care is to excise the tumors when possible, which can be invasive, painful, and disfiguring, and most patients require multiple surgeries throughout their lives.

Led by John Martignetti, MD, PhD, Associate Professor of Genetics and Genomic Sciences, Oncological Sciences, and Pediatrics and other researchers at the Icahn School of Medicine at Mount Sinai and Hakon Hakonarson, MD, PhD at the Children's Hospital of Philadelphia, the global research team gathered blood samples from 32 people from nine different families affected by the disease and performed whole-exome sequencing, a type of genomic sequencing where all protein coding regions of the genome, called the exome, are analyzed. They identified mutations in two genes: PDGFRB and NOTCH3.

"We are very excited about the findings of this study, which started 10 years ago with the enrollment of the first family," said Dr. Martignetti. "The newest developments in sequencing technology have led to a new breakthrough in understanding this debilitating disease and we can therefore begin identifying drug-based treatments to save lives for some and avoiding the negative quality of life impact of extensive and repeated surgery in others."

PDGFRB and NOTCH3 are two genes that are targeted by existing drugs, including imatinib (GLEEVEC) and sunitinib (Sutent). Next, Dr. Martignetti and his team plans to test whether cells grown in the laboratory from myfibromatosis tumors are susceptible to these drugs. They also hope to learn why mutations in these two genes result in disease.

"If we can learn how these mutated genes get hijacked to cause cellular miscommunication, and also test existing and novel therapies to see if they shrink the tumors, we hope to improve the lives of the individuals battling this disease," said Dr. Martignetti.

###

About The Mount Sinai Medical Center

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Researchers identify first drug targets in childhood genetic tumor disorder

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May 23, 2013 Ethnic background plays a surprisingly large role in how diabetes develops on a cellular level, according to two new studies led by researchers at the Stanford University School of Medicine.

The researchers reanalyzed disease data to demonstrate that the physiological pathways to diabetes vary between Africa and East Asia and that those differences are reflected in part by genetic differences. The studies published online simultaneously May 23 in the journals PLoS Genetics and Diabetes Care.

"We have new insights into the differences in diabetes across the world, just by this new perspective applied to older studies," said Atul Butte, MD, PhD, senior author of the studies and chief of the Division of Systems Medicine and associate professor of pediatrics and of genetics. "There's more still to learn about diabetes than we knew."

The early stages of type-2 diabetes, or adult-onset diabetes, can develop when the pancreas has problems creating sufficient insulin, a hormone critical for regulating blood sugar, or when the body's cells have trouble responding to insulin, a condition called "insulin resistance." Both problems will lead to the same result: too much sugar in a person's blood stream, which is the main criterion for diagnosing diabetes. Diabetics develop both low insulin secretion and insulin resistance as the disease progresses.

In the study published in PLoS Genetics, the researchers started by studying genome information of more than 1,000 people in 51 populations from around the world. These individuals were from indigenous populations, representing the earliest groups of humans at various locations. Lead author and former graduate student in Butte's lab, Erik Corona, PhD, studied more than 100 diseases searching for genetic differences in risk across these native populations, and found a clear geographic pattern in the genetics behind type-2 diabetes. The genetic risk is highest for Africans and drops along the trajectory the first humans took when migrating out of Africa toward East Asia (primarily Japan, China and Korea), where diabetes-linked genes appear to be more protective. Based solely on what is currently known about type-2 diabetes genetics, native Africans would appear to be at higher risk for diabetes, while East Asians would appear to be protected. But East Asians are not necessarily at lower risk of diabetes than Africans. Butte pointed out that "East Asians definitely get diabetes. What we would argue is that diabetes may be a different disease" in East Asian populations.

An interactive tool that displays the results can be found at http://geneworld.stanford.edu/hgdp.html.

The genetics study's findings led Butte's team to wonder if there was clinical evidence of these differences in African and East Asian populations. For the second paper, lead author and staff engineering research associate Keiichi Kodama, MD, PhD, pulled data from more than 70 papers looking at simultaneously measured insulin secretion and insulin resistance in individuals across three different ethnic groups: Africans, Caucasians and East Asians. They found that at baseline, Africans had higher insulin resistance but were able to compensate with higher insulin secretion. East Asians were more likely to have less insulin-secretion ability, but this was compensated by having normal insulin resistance. Caucasians fell between these two groups, though they were more likely to develop problems with insulin secretion.

The researchers showed that because individuals from each ethnic group start at a different baseline position, they each reach diabetes in a different way: Africans through increased insulin resistance, and East Asians through lower insulin-secretion ability. "Africans are already pretty insulin resistant," Butte said. "They need their beta cells to work really hard. If their cells fail, that's how they head toward diabetes." East Asians, in contrast, "don't have a lot of spare capacity to secrete more insulin." The findings were published in Diabetes Care.

Butte notes that a shift in how clinicians think about diabetes could lead to more targeted therapies, much as how thinking about cancer has evolved over the past 10 years, leading to new treatments. "Other fields of medicine have undergone a radical rethinking in disease taxonomy, but this has not happened yet for diabetes, one of the world's public health menaces," he said. "If these are separate diseases at a molecular level, we need to try to understand that."

Other Stanford co-authors include past bioinformatics scientist Rong Chen, PhD; Carlos Bustamante, PhD, professor of genetics and co-director of the new Stanford Center for Computational, Evolutionary and Human Genomics; former graduate students Alexander Morgan, PhD, and Aditya Ramesh, MS; and postdoctoral scholars Chirag Patel, PhD, and Martin Sikora, PhD. Scientists at Lund University in Malmo, Sweden, and Kitasato University in Tokyo were also involved in this work.

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Diabetes' genetic underpinnings can vary based on ethnic background

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