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Archive for January, 2012

Gene Study Sheds Light on Body Clock's Link to Diabetes

MONDAY, Jan. 30 (HealthDay News) -- Researchers studying the link between diabetes and a hormone that affects your so-called "body clock" have identified a genetic mutation in the receptor for the hormone, melatonin, that may to boost the risk of the disease.

The finding could help improve assessment of a person's diabetes risk and could also lead to the development of personalized treatments, according to the study published in the Jan. 29 online edition of the journal Nature Genetics.

The research team from Imperial College London found that people who have rare genetic mutations in the receptor for melatonin have a greatly increased risk for type 2 diabetes.

Melatonin controls the body's sleep-wake cycle. A previous study found that people with common variations in the gene for the melatonin receptor MT2 have a slightly increased risk for type 2 diabetes.

This new study discovered that having any of four rare mutations of the MT2 is associated with a six times increased risk of developing type 2 diabetes.

Melatonin controls the release of insulin, which regulates blood sugar levels. Mutations in the MT2 gene may disrupt the connection between the body clock and insulin release, resulting in abnormal control of blood sugar, the researchers explained.

For their study, the investigators examined the MT2 gene in more than 7,000 people. They identified 40 variants associated with type 2 diabetes, four of which are very rare and make the receptor incapable of responding to melatonin. The effect of these four variants was then confirmed in an additional group of nearly 12,000 people.

"Blood sugar control is one of the many processes regulated by the body's biological clock. This study adds to our understanding of how the gene that carries the blueprint for a key component in the clock can influence people's risk of diabetes," study leader Philippe Froguel, from the School of Public Health, said in an Imperial College London news release.

"We found very rare variants of the MT2 gene that have a much larger effect than more common variants discovered before. Although each mutation is rare, they are common in the sense that everyone has a lot of very rare mutations in their DNA. Cataloging these mutations will enable us to much more accurately assess a person's risk of disease based on their genetics," Froguel added.

While the study found a link between the mutation and diabetes risk, it did not find a cause-and-effect relationship.

More information

The American Diabetes Association offers an overview of diabetes prevention.

Read this article:
Gene Study Sheds Light on Body Clock's Link to Diabetes

Bill Gates: Embrace Genetic Modification or Starve

Bill Gates has a terse response to criticism that the high-tech solutions he advocates for world hunger are too expensive or bad for the environment:  Countries can embrace modern seed technology and genetic modification or their citizens will starve.

When he was in high school in the 1960s, people worried there wouldn’t be enough food to feed the world, Gates recalled in his fourth annual letter, which was published online on January 24 and reported on by the AP in the Huffington Post. But the “green revolution,” which transformed agriculture with high-yield crop varieties and other innovations, warded off famine.

Gates is among those who believe another, similar revolution is needed now. The Bill & Melinda Gates Foundation has spent about $2 billion in the past five years to fight poverty and hunger in Africa and Asia, and much of that money has gone toward improving agricultural productivity.

Gates doesn’t apologize for his endorsement of modern agriculture or sidestep criticism of genetic modification. He told the Associated Press that he finds it ironic that most people who oppose genetic engineering in plant breeding live in rich nations that he believes are responsible for global climate change that will lead to more starvation and malnutrition for the poor.

In his 24-page letter, the Microsoft Corp. chairman lamented that more money isn’t spent on agriculture research and noted that of the $3 billion spent each year on work on the seven most important crops, only 10 percent focuses on problems in poor countries.

“Given the central role that food plays in human welfare and national stability, it is shocking – not to mention short-sighted and potentially dangerous – how little money is spent on agricultural research,” he wrote in his letter, calling for wealthier nations to step up.

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Bill Gates: Embrace Genetic Modification or Starve

Mother Seeks Answers to Daughter’s Genetic Illness – Video

22-01-2012 23:39 Jan. 23 (Bloomberg) -- Dana Nieder, mother of three-year-old Maya Nieder, talks with Bloomberg's John Lauerman about her daughter's undiagnosed genetic disorder and her struggles with medical and insurance bureaucracies for advanced testing. (Source: Bloomberg)

Original post:
Mother Seeks Answers to Daughter's Genetic Illness - Video

Santorum's baby puts spotlight on genetic disorder

In this June 6, 2011 file photo, former Pennsylvania Sen. Rick Santorum holds his daughter Bella before announcing he is entering the Republican presidential race, on the steps of the Somerset County Courthouse in Somerset, Pa. Bella has the genetic disorder Trisomy 18, and was hospitalized over the weekend with pneumonia.

(Credit: AP) (CBS) Bella Santorum, the 3-year-old daughter of Republican presidential candidate Rick Santorum, was hospitalized over the weekend with pneumonia and complications from the genetic disorder, Trisomy 18.

Also known as Edwards syndrome, Trisomy 18 occurs when a person is born with three copies of the 18th chromosome, as opposed to two. That extra chromosome interferes with typical childhood development, causing children to be born with clenched hands, crossed legs, feet with rounded bottoms, a small head and jaw, and intellectual disabilities. The disorder can also cause serious heart and kidney problems. Trisomy 18 occurs in about one out of every 3,000 births. It is three times more common in girls than boys, according to the National Institutes of Health.

Unlike Down syndrome, which is caused by an extra chromosome 21, the issues caused by Trisomy 18 are associated with more life-threatening medical complications and 50 percent of babies with Trisomy 18 who are carried to term are stillborn, according to the Trisomy 18 Foundation.

"When a child is born in this situation, they very rarely make it past the first week, because one or two problems can be overwhelming and it just kind of piles up," Dr. Brian McDonough, clinical professor of family medicine at Temple University who is not involved in Bella's care, told CBS Philly.

McDonough said that even a common cold can be deadly for a child with the disorder. He said that since the Bella is over 3 years old, she's probably undergone a great deal of medical care up until now.

"Going to the hospital certainly is not something that would be unexpected," McDonough said, "but every time a child goes to the hospital with Trisomy-18, you worry a great deal."

CBS News reported that on Sunday Rick Santorum said Bella had a "miraculous turnaround" and remains in the hospital.

The Trisomy 18 Foundation has more on the genetic disorder.

Visit link:
Santorum's baby puts spotlight on genetic disorder

Delphi Genetics: The New DNAVAC Research Project Targets the Removal of Antibiotics in Veterinary DNA-Vaccine …

CHARLEROI, Belgium--(BUSINESS WIRE)-- The Belgian Biotech Company Delphi Genetics SA is proud to announce the launch of a newly-funded project. Together with academic and Biotech key-players, the company will participate in the development of DNA vaccines using the Staby® technology (antibiotic-free) during the next 3 years. The objective of the project funded by the Walloon region (BioWin project, 2.3 M €) is to develop and produce antibiotic-free DNA vaccines targeting some veterinary diseases.

The project also involves Eurogentec SA, another Belgian Biotech company (part of Kaneka) in charge of large scale DNA production and purification, and two universities: the Catholic University of Louvain in charge of the pharmaceutical and toxicity aspects of the project and the University of Liège in charge of the vaccinology and veterinary issues. “All partners complement one another perfectly” said Cédric Szpirer, CEO and Head of R&D of Delphi Genetics SA and explained:

“Today vaccination is an uncontested way of fighting disease. DNA vaccination seems to be a particularly promising method at this time, especially in the case of veterinary diseases. However, antibiotic-resistance genes are conventionally used during the construction of DNA vaccines but the resistance is increasingly less tolerated by regulatory agencies (FDA, USDA and EMA). In the context of this project, we propose to replace the antibiotic-resistance gene by the Staby® technology developed by Delphi Genetics and already used for production of recombinant proteins (higher yields and no antibiotics). In order to show the efficiency of our technology, we will develop new veterinary vaccines, we will validate that the method is usable for high scale DNA production and we will show its innocuousness.”

About Delphi Genetics

Founded at the end of 2001, Delphi Genetics SA develops technologies for genetic engineering and protein expression by using unique expertise in the domain of plasmid stabilisation systems.

Since 2004, Delphi Genetics has been marketing innovative kits for researchers. Some of these kits contain technologies that have since been licensed for industrial applications; in 2009 Delphi Genetics announced a non-exclusive licence agreement with Sanofi-Pasteur, the human vaccine division of Sanofi and a non-exclusive agreement with GSK in 2010. These agreements allow Sanofi-Pasteur and GSK to apply the StabyExpress® technology in the production of recombinant proteins, thus enabling them to produce a high yield without using antibiotics.

For more information, visit our website: http://www.delphigenetics.com

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Delphi Genetics: The New DNAVAC Research Project Targets the Removal of Antibiotics in Veterinary DNA-Vaccine ...

Scientists use silk from the tasar silkworm as a scaffold for heart tissue

Of all the body’s organs, the human heart is probably the one most primed for
performance and efficiency. Decade after decade, it continues
to pump blood around our bodies. However, this performance
optimisation comes at a high price: over the course of
evolution, almost all of the body’s own regeneration mechanisms
in the heart have become deactivated. As a result, a heart
attack is a very serious event for patients; dead cardiac cells
are irretrievably lost. The consequence of this is a permanent
deterioration in the heart’s pumping power and in the patient’s
quality of life.

In their attempt to develop a treatment for the repair of
cardiac tissue, scientists are pursuing the
aim of growing replacement tissue in the laboratory, which
could then be used to produce replacement patches for the
repair of damaged cardiac muscle. The reconstruction of a
three-dimensional structure poses a challenge here. Experiments
have already been carried out with many different materials
that could provide a scaffold substance for the loading of cardiac muscle cells.

“Whether natural or artificial in origin, all of the tested
fibres had serious disadvantages,” says Felix Engel, Research
Group Leader at the Max Planck Institute for Heart and Lung
Research in Bad Nauheim. “They were either too brittle, were
attacked by the immune system or did not enable the heart
muscle cells to adhere correctly to the fibres.” However, the
scientists have now found a possible solution in Kharagpur,
India.

At the university there, coin-sized disks are being produced
from the cocoon of the tasar silkworm (Antheraea mylitta). According to
Chinmoy Patra, an Indian scientist who now works in Engel’s
laboratory, the fibre produced by the tasar silkworm displays
several advantages over the other substances tested. “The
surface has protein structures that facilitate the adhesion of
heart muscle cells. It’s also coarser than other silk fibres.”
This is the reason why the muscle cells grow well on it and can
form a three-dimensional tissue structure. “The communication
between the cells was intact and they beat synchronously over a
period of 20 days, just like real heart muscle,” says Engel.

Despite these promising results, clinical application of the
fibre is not currently on the agenda. “Unlike in our study,
which we carried out using rat cells, the problem of obtaining
sufficient human cardiac cells as starting material has not yet
been solved,” says Engel. It is thought that the patient’s own
stem cells could be used as starting material to avoid
triggering an immune reaction. However, exactly how the
conversion of the stem cells into cardiac muscle cells works
remains a mystery.

More information: Chinmoy Patra, Sarmistha Talukdar,
Tatyana Novoyatleva, Siva R. Velagala, Christian Mühlfeld,
Banani Kundu, Subhas C. Kundu, Felix B. Engel
Silk protein fibroin from Antheraea mylitta for cardiac tissue
engineering, Biomaterials, Advance Online Publication
Januar 10, 2012

Provided by Max-Planck-Gesellschaft (news : web)

Continue reading here:
Scientists use silk from the tasar silkworm as a scaffold for heart tissue

Human brain cells created from skin samples

Melbourne, Jan 30 (ANI): In a startling medical breakthrough,
scientists in Scotland have created brain tissue from skin samples of
patients who are suffering from mental illnesses such as
schizophrenia and depression.

The latest achievement was made by researchers at
Edinburgh's Centre for Regenerative
Medicine.

"A patient's neurones can tell us a great deal about the
psychological conditions that affect them, but you cannot
stick a needle in someone's brain and take out its cells,"
the Daily Telegraph quoted Professor Charles ffrench-Constant, the
center's director, as telling the Guardian.

"However, we have found a way round that. We can take a skin
sample, make stem cells from it and then direct
these stem cells to grow into brain cells. Essentially, we are
turning a person's skin cells into brain," he stated.

The scientists hope that studying these manufactured brain
cells will reveal clues to the conditions of patients with
mental illnesses - a task that had been challenging in the
past.

"It is very difficult to get primary tissue to study until
after a patient has died," said the Royal Edinburgh Hospital's
Professor Andrew McIntosh, who is collaborating with the
center on the project.

"Even then, that tissue is affected by whatever killed them
and by the impact of the medication they had been taking for
their condition, possibly for several decades. So having
access to living brain cells is a significant development for
the development of drugs for these conditions," McIntosh
added.

If successful, the same methods could be used for other
organs, including the liver and heart. (ANI)

See the rest here:
Human brain cells created from skin samples

Scientists use skin samples to create human brain cells

Sixteen years after Dolly the sheep was cloned in Edinburgh,
scientists in Scotland have made another startling medical
breakthrough.

Researchers at Edinburgh's Centre for Regenerative Medicine
have created brain tissue from patients suffering mental
illnesses such as schizophrenia and depression.

"A patient's neurones can tell us a great deal about the
psychological conditions that affect them, but you cannot stick
a needle in someone's brain and take out its cells," the
center's director, Professor Charles ffrench-Constant, told the
Guardian.

"However, we have found a way round that. We can take a skin
sample, make stem cells from it and then direct these stem
cells to grow into brain cells. Essentially, we are turning a
person's skin cells into brain."

The scientists hope that studying these manufactured brain
cells will reveal clues to the conditions of patients with
mental illnesses—a task that had been challenging in the past.

"It is very difficult to get primary tissue to study until
after a patient has died," said the Royal Edinburgh Hospital's
Professor Andrew McIntosh, who is collaborating with the center
on the project.

"Even then, that tissue is affected by whatever killed them and
by the impact of the medication they had been taking for their
condition, possibly for several decades. So having access to
living brain cells is a significant development for the
development of drugs for these conditions," McIntosh said.

If successful, the same methods could be used for other organs,
including the liver and heart.

Click here to read more. 

Read more from the original source:
Scientists use skin samples to create human brain cells

Ohio euthanizes leopard kept after exotics escape

COLUMBUS,
Ohio (AP) — A spotted leopard that was among six
creatures kept at an Ohio zoo after an exotic animal escape was
euthanized after it was hit by a lowering door between two
enclosures and suffered a severe spinal cord injury, officials said
Monday.

The male leopard had been cared for at the Columbus zoo under a
state-issued quarantine order along with two other
leopards, two primates and a bear. Their owner committed
suicide in October after releasing dozens of tigers, bears and
other animals that were subsequently killed by authorities near
Zanesville.

A keeper was moving the leopard between enclosures Sunday
morning for routine feeding and cleaning when the animal
unexpectedly reversed course as a door was being lowered, and
it was struck on the neck, the zoo and the Ohio Department of
Agriculture said. A zoo veterinarian tried to use chest
compressions to restart the unresponsive animal's heart.

The state veterinarian was on-site and decided to euthanize the
cat after further examination revealed its spinal cord had been
irreversibly damaged and it could not breathe on its own,
officials said.

An attorney for the owner's widow, Marian Thompson, said Monday he was
withholding comment until they learn more about what happened.
Thompson has appealed the quarantine order and requested a
hearing on the matter, but no date has been set.

Thompson sought to reclaim the surviving animals in late
October, but the Department of Agriculture ordered they
be kept in quarantine. Ohio law allows the agriculture director
to quarantine animals while investigating reports of
potentially dangerous diseases.

Officials said they were concerned about reports that the
animals lived in unsanitary conditions where they could be
exposed to disease. The order prevents the zoo from releasing
the animals until it's clear they're free of dangerous
diseases, and it sets no deadline for medical testing to
confirm that.

The state said the leopard that was euthanized had a congenital
defect that weakened its spine and might have affected the
severity of its injury. Radiographs before and after death
showed malformed vertebrae in its neck, and the leopard also
had old injuries that didn't properly heal, including broken
back and tail bones, officials said.

A necropsy was performed, but the results were expected to take
weeks.

The Department of Agriculture would dispose of the leopard's
remains for biological safety reasons, spokeswoman Erica
Pitchford said.

More:
Ohio euthanizes leopard kept after exotics escape

21st Century Snake Oil, Part 1 – Video

24-09-2010 12:47 "60 Minutes" hidden cameras expose medical con men who prey on dying victims by using pitches that capitalize on the promise of stem cells to cure almost any disease. Scott Pelley reports

Go here to read the rest:
21st Century Snake Oil, Part 1 - Video

Stem Cell Treatment for Heart Failure – Video

06-10-2011 17:25 A doctor becomes patient and gives his testimony on stem cell treatment he received to overcome heart failure.

Read the rest here:
Stem Cell Treatment for Heart Failure - Video

Gene Therapy: Dr. Zehhr – Video

23-01-2012 19:59 For Bio Honors

See more here:
Gene Therapy: Dr. Zehhr - Video

Eastday-Leukemia boy gets op following cash appeal

AN eight-year-old boy suffering from leukemia has undergone a
bone marrow transplant, after Shanghai Daily readers helped pay
for surgery.

Hundreds of readers who read about Xu Ping'an's plight in
November contributed to a fund that has raised more than
240,000 yuan (US$37,897).

The money is to help Xu Ping'an and his five-month-old brother,
Xu Pingkang, who has congenital heart disease.

The boys' father, Xu Xuebing, told Shanghai Daily yesterday
that his elder son was recovering well after the operation at a
local private hospital.

Doctors told him healthy blood stem cells given to Xu Ping'an
were still alive after 10 days, which is a positive sign.

"I am really grateful to the people who have helped us," said
Xu Xuebing.

He called on the government to help pay for further medical
treatment for his sons.

"I'm hoping the government can lend a hand to help my boys get
through this," said the father.

Xu Ping'an, originally from Jiangxi Province, was diagnosed
with leukemia in 2007. The family moved to Shanghai in the same
year to get better treatment for the boy.

Last year, Xu Xuebing and his wife, Zhang Yuehong, decided to
have a second child, after being told by doctors that a
transplant of their second child's umbilical cord blood stem
cells could save Xu Ping'an.

But when Xu Pingkang was born last September, he was found to
have congenital heart disease.

When the opportunity arose for an operation for the elder boy,
the family decided to use his mother's blood stem cells as the
baby was too weak to provide them for his brother.

Through donations, the family managed to pay for the first
phase of treatment but cannot afford total medical bills,
estimated at 350,000 yuan.

Xu Ping'an is receiving further treatment in the Shanghai
DaoPei Hospital and will remain there for at least a month,
according to his father.

More:
Eastday-Leukemia boy gets op following cash appeal

Eastday-Leukemia boy gets op following cash appeal

AN eight-year-old boy suffering from leukemia has undergone a
bone marrow transplant, after Shanghai Daily readers helped pay
for surgery.

Hundreds of readers who read about Xu Ping'an's plight in
November contributed to a fund that has raised more than
240,000 yuan (US$37,897).

The money is to help Xu Ping'an and his five-month-old brother,
Xu Pingkang, who has congenital heart disease.

The boys' father, Xu Xuebing, told Shanghai Daily yesterday
that his elder son was recovering well after the operation at a
local private hospital.

Doctors told him healthy blood stem cells given to Xu Ping'an
were still alive after 10 days, which is a positive sign.

"I am really grateful to the people who have helped us," said
Xu Xuebing.

He called on the government to help pay for further medical
treatment for his sons.

"I'm hoping the government can lend a hand to help my boys get
through this," said the father.

Xu Ping'an, originally from Jiangxi Province, was diagnosed
with leukemia in 2007. The family moved to Shanghai in the same
year to get better treatment for the boy.

Last year, Xu Xuebing and his wife, Zhang Yuehong, decided to
have a second child, after being told by doctors that a
transplant of their second child's umbilical cord blood stem
cells could save Xu Ping'an.

But when Xu Pingkang was born last September, he was found to
have congenital heart disease.

When the opportunity arose for an operation for the elder boy,
the family decided to use his mother's blood stem cells as the
baby was too weak to provide them for his brother.

Through donations, the family managed to pay for the first
phase of treatment but cannot afford total medical bills,
estimated at 350,000 yuan.

Xu Ping'an is receiving further treatment in the Shanghai
DaoPei Hospital and will remain there for at least a month,
according to his father.

More:
Eastday-Leukemia boy gets op following cash appeal

Skin samples to create human brain cells

EDINBURGH - Sixteen years after Dolly the sheep was cloned
in Edinburgh, scientists in Scotland have made another
startling medical breakthrough.

Researchers at Edinburgh's Centre for Regenerative Medicine
have created brain tissue from patients suffering mental
illnesses such as schizophrenia and depression.

"A patient's neurones can tell us a great deal about the
psychological conditions that affect them, but you cannot
stick a needle in someone's brain and take out its cells,"
the center's director, Professor Charles ffrench-Constant,
told the Guardian.

"However, we have found a way round that. We can take a skin
sample, make stem cells from it and then direct these stem
cells to grow into brain cells. Essentially, we are turning a
person's skin cells into brain."

The scientists hope that studying these manufactured brain
cells will reveal clues to the conditions of patients with
mental illnesses - a task that had been challenging in the
past.

"It is very difficult to get primary tissue to study until
after a patient has died," said the Royal Edinburgh
Hospital's Professor Andrew McIntosh, who is collaborating
with the center on the project.

"Even then, that tissue is affected by whatever killed them
and by the impact of the medication they had been taking for
their condition, possibly for several decades. So having
access to living brain cells is a significant development for
the development of drugs for these conditions," McIntosh
said.

If successful, the same methods could be used for other
organs, including the liver and heart.

Continue reading here:
Skin samples to create human brain cells

Smartphone Tech Meets Personalized Medicine: Everist CardioDefender

ANN ARBOR — Everist Genomics announced Friday that its
executive vice chairman, Alex Charlton, will speak about its
breakthrough CardioDefender Device at the Wearable Technologies
Conference Monday in Munich, Germany.

Smartphone healthcare applications are graduating from novelty
items to mainstream medicine, helping physicians to save lives
and reduce the cost of care.

Everist Genomics, a rapidly growing personalized medicine
company, is successfully integrating smartphone and tablet
computer technology with innovative, medically important
diagnostics and prognostics in the areas of cardiovascular
disease, diabetes and cancer.

Everist Genomics’ CardioDefender is the world’s first
FDA-approved and CE mark-registered smartphone ECG system to
provide physicians and patients with hospital-quality heart
rhythm monitoring outside of the hospital setting.

CardioDefender incorporates several unique capabilities
enabling physicians to diagnose and treat potentially
life-threatening heart arrhythmias that might otherwise be
missed.

CardioDefender is the first system to deliver mobile,
real-time, beat-by-beat, and quantitative heart monitoring and
automated reporting by combining patented analytical smartphone
software with a Wi-Fi device and electrodes.

“The essence of personalized medicine is to diagnose a problem
before there are noticeable symptoms,” Charlton said.
“Physicians who diagnose and treat heart arrhythmias have been
hampered for many years by legacy technology, such as hospital
based ECG systems which confine patients to the high-cost
hospital setting and Holter monitors which do not provide
the comprehensive monitoring needed to detect potentially life
threatening arrhythmias. For the first time, CardioDefender
enables smartphone-based hospital-quality ECG monitoring of
patients 24 hours per day, seven days per week.”

The company’s recently announced commercialization plans of
CardioDefender coincide with reports from various industry
sources projecting significant growth in remote patient
monitoring. According to analyst firm Berg Insight, for
example, around 2.2 million patients worldwide were using home
monitoring service based on equipment with integrated
connectivity at the end of 2011 — cardiac arrhythmia was cited
as one of the most common conditions monitored by these
technologies.

Following FDA approval and European CE Mark registration last
year, CardioDefender has already been deployed at more
than 150 medical facilities in the United States for
post-approval commercial evaluation. Between January and
October of 2011, the number of patient days of heart rhythm
monitoring performed with CardioDefender grew from fewer than
5,000 to more than 18,000 patient days per month. Since the
system was introduced, Everist Genomics has received inquiries
about the product from more than 32 countries, including China,
India and the United States.

Everist Genomics launched its first product last year with the
introduction of OncoDefender-CRC, a prognostic test for
predicting the risk of disease recurrence for early stage
colorectal cancer patients. The company expanded its pipeline
with the creation of a new franchise of diagnostic and
prognostic tests aimed at melding personalized medicine with
mobile health platforms.

In addition to the CardioDefender diagnostic system,
Everist Genomics recently announced development of
AngioDefender, the world’s first tablet computer device capable
of accurately diagnosing atherosclerosis in asymptomatic
patients. The company is developing mobile applications for the
AngioDefender system to extend physician access to vital
patient information and provide clinical support for treatment
planning. The company plans to launch the AngioDefender system
in February 2012.

More at http://www.everistgenomics.com.

Continue reading here:
Smartphone Tech Meets Personalized Medicine: Everist CardioDefender

Rob Walking – 5 months after suffering a C6 Spinal Cord Injury – Video

23-01-2012 00:02 By far the best video I will ever upload!!! On August 13th, 2011, Rob became a quadriplegic after breaking his neck in a diving accident. On January 22, 2012 Rob took his first steps! These are them! Those looking for inspiration will find it here; Rob had been told by a number of doctors that he would never walk again. NEVER GIVE UP, NEVER GIVE IN, TRIUMPH!!

Read the rest here:
Rob Walking - 5 months after suffering a C6 Spinal Cord Injury - Video

Cardiac Stem Cell Transplant – Video

27-01-2012 21:30 TORONTO - Doctors have performed Ontario's first cardiac stem cell transplant using cells from the patient's own bone marrow.

More here:
Cardiac Stem Cell Transplant - Video

Lecture by stem cell researcher tomorrow

Celebrated adult stem cell researcher Shinya Yamanaka will
deliver a lecture, ‘New era of medicine with iPS cells', here
on Monday as part of a three-city lecture series. Prof.
Yamanaka's scientific breakthrough was the creation of
embryonic-like stem cells from adult skin cells.

The lecture by this Japanese physician is the third edition of
The Cell Press-TNQ India Distinguished Lectureship Series. He
will also deliver it in Chennai on February 1 and New Delhi on
February 3. The lecture series is co-sponsored by Cell Press
and TNQ Books and Journals.

Quantum leap

The stated goal of Prof. Yamanaka's laboratory has been to
generate pluripotent stem cells from human somatic cells. The
ability to re-programme adult cells back into an earlier,
undifferentiated state has helped to reshape the ethical debate
over stem cell research by providing an approach to obtain
pluripotent stem cells that need not be harvested from an
embryo.

Prof. Yamanaka, who was awarded the Albert Lasker Prize in 2009
and the Wolf Prize in 2011, is the director of the Centre for
iPS Cell Research and Application and professor at the
Institute for Frontier Medical Sciences at Kyoto University. He
is also a senior investigator at the UCSF-affiliated J. David
Gladstone Institutes and a professor of Anatomy at the
University of California in San Francisco.

Previous lectures

The inaugural speaker of the lecture series was American
biologist David Baltimore, who won the 1975 Nobel. The second
speaker was Australia-born American biological researcher
Elizabeth Blackburn, awarded the 2009 Nobel.

The lecture in Bangalore will commence at 4.30 p.m. at J.N.
Tata Auditorium, National Science Seminar Complex, Indian
Institute of Science, C.V. Raman Road.

Read the original here:
Lecture by stem cell researcher tomorrow

It's in their DNA: 'Speed gene' of greatest ever thoroughbreds traced back to ONE horse 300 years ago

Gene traced back to single 17th century British
mare

Experts analysed data from nearly 600
horses

By Chris Parsons

Last updated at 9:44 AM on 28th January 2012

They are some of the world's greatest ever horse racing
names, but new research has suggested that the likes of
Seabiscuit, Man O'War, Secretariat and Seattle Slew may all
have a distant genetic connection.

Researchers have claimed that all the best thoroughbreds
of racing are all very distantly related after tracing the
'speed gene' they all share to a single ancestor from the 17th
century.

Experts at University College Dublin analysed DNA from
nearly 600 horses and 22 modern breeds, and were able to
predict what the horses had in common genetically.

Scientists analysing horse DNA traced the 'speed gene' back
to a single British mare in the 17th century

Their results showed how the 'speed gene' which saw
racing greats like Man O'War and Seabiscuit power to victory
was passed to the famous horses from a single founder, a
British mare around 300 years ago.

The British ancestor was racing in the mid-17th century
at a time when local British breeds were pre-eminent in racing
horses and before the foundation of the thoroughbred
racehorse.

 

In finding the 'speed gene', a C type myostatin gene
variant, researchers studied genetic data from hundreds of
horses, as well as the skeletal remains of 12 thoroughbred
stallions born between 1764 and 1930.

Their research also included DNA from 330 elite
performing thoroughbreds, 40 donkeys and two zebras.

Legend: U.S. thoroughbred Seattle Slew remains the only horse
to win the Triple Crown while undefeated

Iconic: Man O'War, thought to be one of the greatest
thoroughbreds of all time, won 20 of his 21 races.

Record breaker: U.S. horse Secretariat set records in two
Triple Crown races which still stand to this day

Famous: Seabiscuit became the subject of a book and two films
followings its success

Modern variants recently traced successful thoroughbreds
back to legendary mare Nearctic, who lived between 1954 and
1973.

The variant branched out to Nearctic's son Northern
Dancer, which according to LiveScience was the most bred
stallion of modern times.

Norther Dancer never finished lower than third and won 14
of his 18 races.

But the new research has now traced the success of modern
thoroughbreds back to a single horse over 300 years ago.

Researcher Emmeline Hill, a genomics scientist at
University College Dublin who led the study, said: 'Changes in
racing since the foundation of the Thoroughbred have shaped the
distribution of 'speed gene' types over time and in different
racing regions.

Research: Dr Emmeline Hill, pictured with Irish trainer Jim
Bolger, conducted the study to discover the genetic links
between successful thoroughbreds

'But we have been able to identify that the original
'speed gene' variant entered the Thoroughbred from a single
founder, which was most likely a British mare about 300 years
ago.

'Having first identified the 'speed gene' in 2010, we
decided to see if we could trace the origin of the gene variant
using population genetics coupled with pedigree
analysis.

'We wanted to understand where speed in the Thoroughbred
came from.'

Researchers said all great sprinting horses shared two
genes associated with muscle development.

The genetic combination was not present in regular farm
horses, donkeys or zebras.

 

Follow this link:
It's in their DNA: 'Speed gene' of greatest ever thoroughbreds traced back to ONE horse 300 years ago

Body clock gene 'link' to diabetes

Defective versions of a "body clock" gene greatly increase the
risk of type 2 diabetes, a study has shown.

The discovery provides new evidence of a link between the
body's sleep cycle, governed by the hormone melatonin, and the
disease.

Previous research has found that people who work night shifts
are more at risk of type 2 diabetes and heart disease.
Volunteers who have their sleep disrupted repeatedly for three
days also develop temporary diabetic symptoms.

Melatonin controls the body's cycle of sleeping and waking,
inducing drowsiness and lowering body temperature. For this
reason melatonin supplements are often taken to combat jet-lag.

The new study focused on a gene called MT2 which codes for the
molecular cell receptor that allows melatonin to work. Carrying
any of four rare mutations in the gene increased the risk of
developing type 2 diabetes six times, the research showed.
Faulty MT2 is thought to disrupt the link between the body
clock and insulin release, leading to abnormal control of blood
sugar and diabetes.

The findings are published in the journal Nature Genetics.

Study leader Professor Philippe Froguel, from Imperial College
London, said: "We found very rare variants of the MT2 gene that
have a much larger effect than more common variants discovered
before. Although each mutation is rare, they are common in the
sense that everyone has a lot of very rare mutations in their
DNA. Cataloguing these mutations will enable us to much more
accurately assess a person's risk of disease based on their
genetics."

More than two million people in the UK are known to suffer from
type 2 diabetes, the most common form of the disease, which is
linked to obesity and lifestyle.

The Imperial team and other scientists from the UK and France
looked at the MT2 gene in the DNA of 7,632 people. They found
40 variants associated with type 2 diabetes, including four
that were very rare and rendered the receptor completely
incapable of responding to melatonin. The link with the four
mutations was then confirmed in an even bigger sample of 11,854
people.

The scientists tested the effects of the defective genes in
human cells in the laboratory. They found the mutations had a
major impact on type 2 diabetes risk.

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Body clock gene 'link' to diabetes

Body clock receptor linked to diabetes in new genetic study

Public
release date: 29-Jan-2012
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Contact: Sam Wong
sam.wong@imperial.ac.uk
44-207-594-2198
Imperial College
London

A study published in Nature Genetics today has found new
evidence for a link between the body clock hormone melatonin
and type 2 diabetes. The study found that people who carry rare
genetic mutations in the receptor for melatonin have a much
higher risk of type 2 diabetes.

The findings should help scientists to more accurately assess
personal diabetes risk and could lead to the development of
personalised treatments.

Previous research has found that people who work night shifts
have a higher risk of type 2 diabetes and heart disease.
Studies have also found that if volunteers have their sleep
disrupted repeatedly for three days, they temporarily develop
symptoms of diabetes.

The body's sleep-wake cycle is controlled by the hormone
melatonin, which has effects including drowsiness and lowering
body temperature. In 2008, a genetic study led by Imperial
College London discovered that people with common variations in
the gene for MT2, a receptor for melatonin, have a slightly
higher risk of type 2 diabetes.

The new study reveals that carrying any of four rare mutations
in the MT2 gene increases a person's risk of developing type 2
diabetes six times. The release of insulin, which regulates
blood sugar levels, is known to be regulated by melatonin. The
researchers suggest that mutations in the MT2 gene may disrupt
the link between the body clock and insulin release, leading to
abnormal control of blood sugar.

Professor Philippe Froguel, from the School of Public Health at
Imperial College London, who led the study, said: "Blood sugar
control is one of the many processes regulated by the body's
biological clock. This study adds to our understanding of how
the gene that carries the blueprint for a key component in the
clock can influence people's risk of diabetes.

"We found very rare variants of the MT2 gene that have a much
larger effect than more common variants discovered before.
Although each mutation is rare, they are common in the sense
that everyone has a lot of very rare mutations in their DNA.
Cataloguing these mutations will enable us to much more
accurately assess a person's risk of disease based on their
genetics."

In the study, the Imperial team and their collaborators at
several institutions in the UK and France examined the MT2 gene
in 7,632 people to look for more unusual variants that have a
bigger effect on disease risk. They found 40 variants
associated with type 2 diabetes, four of which were very rare
and rendered the receptor completely incapable of responding to
melatonin. The scientists then confirmed the link with these
four variants in an additional sample of 11,854 people.

Professor Froguel and his team analysed each mutation by
testing what effect they have on the MT2 receptor in human
cells in the lab. The mutations that completely prevented the
receptor from working proved to have a very big effect on
diabetes risk, suggesting that there is a direct link between
MT2 and the disease.

###

The research was funded by the Wellcome Trust, the National
Institute for Health Research and the Medical Research Council
in the UK and the Agence National de la Recherche, the Contrat
de Projets Etat-R?gion Nord-Pas-De-Calais, the Soci?t?
Francophone du Diab?te, the Fondation Recherche M?dicale and
the Centre National de la Recherche Scientifique in France.

For further information please contact:

Sam Wong
Research Media Officer
Imperial College London
Email: sam.wong@imperial.ac.uk
Tel: +44(0)20 7594 2198
Out of hours duty press officer: +44(0)7803 886 248

Notes to editors:

1. Journal reference
A. Bonnefond et al. 'Rare MTNR1B variants impairing melatonin
receptor 1B function contribute to type 2 diabetes' Nature
Genetics, published online 29 January 2012.

2. About Imperial College London

Consistently rated amongst the world's best universities,
Imperial College London is a science-based institution with a
reputation for excellence in teaching and research that
attracts 14,000 students and 6,000 staff of the highest
international quality. Innovative research at the College
explores the interface between science, medicine, engineering
and business, delivering practical solutions that improve
quality of life and the environment - underpinned by a dynamic
enterprise culture.

Since its foundation in 1907, Imperial's contributions to
society have included the discovery of penicillin, the
development of holography and the foundations of fibre optics.
This commitment to the application of research for the benefit
of all continues today, with current focuses including
interdisciplinary collaborations to improve global health,
tackle climate change, develop sustainable sources of energy
and address security challenges.

In 2007, Imperial College London and Imperial College
Healthcare NHS Trust formed the UK's first Academic Health
Science Centre. This unique partnership aims to improve the
quality of life of patients and populations by taking new
discoveries and translating them into new therapies as quickly
as possible.

Website: http://www.imperial.ac.uk
Twitter: http://www.twitter.com/imperialspark
Podcast: http://www.imperial.ac.uk/media/podcasts

3. About the Medical Research Council

For almost 100 years the Medical Research Council has improved
the health of people in the UK and around the world by
supporting the highest quality science. The MRC invests in
world-class scientists. It has produced 29 Nobel Prize winners
and sustains a flourishing environment for internationally
recognised research. The MRC focuses on making an impact and
provides the financial muscle and scientific expertise behind
medical breakthroughs, including one of the first antibiotics
penicillin, the structure of DNA and the lethal link between
smoking and cancer. Today MRC funded scientists tackle research
into the major health challenges of the 21st century. http://www.mrc.ac.uk

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EurekAlert! system.

Read more:
Body clock receptor linked to diabetes in new genetic study

Jobs, genetics won't stop her from climbing

On her last day as a public defender, Marybeth Dingledy didn't
talk about court cases.

She talked about an 18,491-foot volcano in Mexico. She talked
about seeing a climbing partner fall 100 feet during a descent
of Mount Baker, the first of many peaks Dingledy has scaled.

She talked about being dealt bad genetic cards, but taking
charge of her health as much as possible.

Oh, and there's that new job. She talked about that, too.

"I never thought it was my goal," Dingledy said Friday. "But my
dad reminded me at Thanksgiving that I had said, 'One day I'll
be a judge or a teacher.' "

After 16 years as an attorney with the Snohomish County Public
Defender Association, the 42-year-old Dingledy is scheduled to
be sworn in Feb. 7 as the county's newest Superior
Court judge. She was chosen by Gov. Chris Gregoire earlier
this month to fill the seat held by Judge Ronald Castleberry,
who is retiring.

Over coffee Friday, Dingledy said people in Snohomish County's
legal community suggested in recent years that she put her name
in the running for the bench. The Superior Court will soon have
two new faces. Former Snohomish County Prosecutor Janice
Ellis was selected in December to fill the seat held by
Judge Kenneth Cowsert, who also retired.

Dingledy said she was struck by "a whole lot of emotions" when
she was appointed to the bench. "I was incredibly excited and
honored, but also sad to be leaving a great job," she said.

Because of her judicial duties, Dingledy put a personal goal on
hold. This coming summer, she had planned to climb Alaska's
Mount McKinley, also known as Denali. The trip
would have taken her away for three weeks.

That wasn't practical while settling into her judicial role.
Also, Dingledy said, she may be in a campaign this summer and
fall if someone files for election to her seat on the bench.

Still, she plans a two-day climb of Mount Rainier this summer.

A mountain climber since 2006, Dingledy has raised money for
the Fred
Hutchinson Cancer Research Center through the
Climb to Fight Breast Cancer. She climbed Mount Baker in
2006 and Rainier in 2007. In 2008, Dingledy went to Mexico to
climb two inactive volcanoes, the 18,491-foot Pico de Orizaba and the
smaller Iztaccihuatl.

She traveled to Tanzania in 2009 to climb Mount Kilimanjaro. In
2010, a dangerous turn in the weather kept her group from
making it to the top of California's Mount Shasta. Last summer,
Dingledy climbed Mount
Olympus on the Olympic Peninsula.

"I've raised over $60,000" for the Hutchinson center, she said.

Those fundraising days are over. Dingledy said that as a judge,
it isn't appropriate to raise money, even for a cause as noble
as fighting breast cancer. Others are welcome to donate to the
effort that remains close to her heart.

For Dingledy, the battle against breast cancer is personal.

In 2003, she learned she inherited an altered BRCA2 gene. That
means she has a much higher than average chance of getting
breast cancer and ovarian cancer. Her father's mother died of
breast cancer, and two of her father's sisters developed the
disease.

According to the National
Cancer Institute, a gene on chromosome 13 normally helps
suppress cell growth. With a mutated BRCA1 or BRCA2 gene, there
is high risk of breast, ovarian or prostate cancer.

In October, Dingledy did something about it. Doctors had
recommended that her ovaries be removed by age 45. On Oct. 26,
she underwent a hysterectomy, which is removal of the uterus,
and removal of her ovaries.

The surgery, she said, cut her risk of breast cancer in half
and greatly reduced her risk of ovarian cancer. In a 2009
Herald interview, Dingledy said that without surgery she
would have at least an 80 percent lifetime risk of breast
cancer and a 20 percent chance of ovarian cancer.

"On the same day I scheduled the surgery, I signed up to climb
Denali," she said.

She won't get there this summer, but Dingledy is excited to
step up to the Superior Court.

As a public defender, she said, "I've become a really good
listener." She feels ready for the next step. Being a judge,
she said, requires listening, being respectful and
compassionate, figuring out the issues, and "trying to make
sure you are doing justice to everybody."

Denali can wait. Still, Dingledy isn't about to quit climbing,
even as her day job has her wearing a judge's robes.

She often trains by biking 16 miles to work from her Bothell
home, then taking a bus home. "I don't think any of the other
judges take a bike and the bus to work," she said.

Dingledy hasn't yet climbed up onto the bench, but she has
shown courage and fortitude climbing mountains and standing up
to health risks.

"I can't change my genes, but I'm not going to feel sorry for
myself," she said. "There's plenty to do."

Julie Muhlstein: 425-339-3460; muhlstein@heraldnet.com.

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Jobs, genetics won't stop her from climbing

Genetics study reveals how bacteria behind serious childhood disease evolve to evade vaccines

Public
release date: 29-Jan-2012
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Contact: Craig Brierley
c.brierley@wellcome.ac.uk
44-207-611-7329
Wellcome Trust

Genetics has provided surprising insights into why vaccines
used in both the UK and US to combat serious childhood
infections can eventually fail. The study, published today in
Nature Genetics, which investigates how bacteria change
their disguise to evade the vaccines, has implications for how
future vaccines can be made more effective.

Pneumococcus (Streptococcus pneumoniae) causes
potentially life-threatening diseases including pneumonia and
meningitis. Pneumococcal infections are thought to kill around
a million young children worldwide each year, though the
success of vaccination programmes has led to a dramatic fall in
the number of cases in countries such as the UK and US. These
vaccines recognise the bacteria by its polysaccharide, the
material found on the outside of the bacterial cell. There are
over ninety different kinds ? or 'serotypes' ? of the bacteria,
each with a different polysaccharide coating.

In 2000, the US introduced a pneumococcal vaccine which
targeted seven of the ninety serotypes. This '7-valent' vaccine
was extremely effective and had a dramatic effect on reducing
disease amongst the age groups targeted. Remarkably, the
vaccine has also prevented transmission from young children to
adults, resulting in tens of thousands fewer cases of
pneumococcal disease each year. The same vaccine was introduced
in the UK in 2006 and was similarly successful.

In spite of the success of the vaccine programmes, some
pneumococcal strains managed to continue to cause disease by
camouflaging themselves from the vaccine. In research funded by
the Wellcome Trust, scientists at the University of Oxford and
at the Centers for Disease Control and Prevention in Atlanta
studied what happened after the introduction of this vaccine in
the US. They used the latest genomic techniques combined with
epidemiology to understand how different serotypes of the
pneumococcus bacteria evolve to replace those targeted by the
initial vaccine.

The researchers found bacteria that had evaded the vaccine by
swapping the region of the genome responsible for making the
polysaccharide coating with the same region from a different
serotype, not targeted by the vaccine. This effectively
disguised the bacteria, making it invisible to the vaccine.
This exchange of genome regions occurred during a process known
as recombination, whereby one of the bacteria replaces a piece
of its own DNA with a piece from another bacterial type.

Dr Rory Bowden, from the University of Oxford, explains:
"Imagine that each strain of the pneumococcus bacteria is a
class of schoolchildren, all wearing the school uniform. If a
boy steals from his corner shop, a policeman ? in this case the
vaccine ? can easily identify which school he belongs to by
looking at his uniform. But if the boy swaps his sweater with a
friend from another school, the policemen will no longer be
able to recognise him and he can escape. This is how the
pneumococcus bacteria evade detection by the vaccine."

Dr Bowden and colleagues identified a number of recombined
serotypes that had managed to evade the vaccine. One in
particular grew in frequency and spread across the US from east
to west over several years. They also showed that during
recombination, the bacteria also traded a number of other parts
of the genome at the same time, a phenomenon never before
observed in natural populations of pneumococcus. This is of
particular concern as recombination involving multiple
fragments of DNA allows rapid simultaneous exchange of key
regions of the genome within the bug, potentially allowing it
to quickly develop antibiotic resistance.

The original 7-valent vaccine in the US has now been replaced
by a 13-valent vaccine, which targets thirteen different
serotypes, including the particular type which had escaped the
original vaccine. In the UK, the 7-valent vaccine resulted in a
substantial drop in disease overall. This overall effect was a
mixture of a large drop in frequency of the serotypes targeted
by the vaccine with some growth in serotypes not targeted by
the vaccine. The 13-valent vaccine was introduced in the UK in
2010.

Derrick Crook, Professor of Microbiology at the University of
Oxford and Infection Control Doctor at the Oxford University
Hospitals NHS Trust, adds: "Childhood vaccines are very
effective at reducing disease and death at a stage in our lives
when we are susceptible to serious infections. Understanding
what makes a vaccine successful and what can cause it to fail
is important. We should now be able to understand better what
happens when a pneumococcal vaccine is introduced into a new
population. Our work suggests that current strategies for
developing new vaccines are largely effective but may not have
long term effects that are as successful as hoped."

Dr Bernard Beall, a scientist at the Centers for Disease
Control and Prevention commented: "The current vaccine strategy
of targeting predominant pneumococcal serotypes is extremely
effective, however our observations indicate that the organism
will continue to adapt to this strategy with some measurable
success."

The Wellcome Trust, which part-funded this research, views
combating infectious disease and maximising the health benefits
of genetic research as two of its strategic priorities. Dr
Michael Dunn, Head of Molecular and Physiological Sciences at
the Wellcome Trust commented: "New technologies allow us to
rapidly sequence disease-causing organisms and see how they
evolve. Coupled with collaborations with epidemiologists, we
can then track how they spread and monitor the potential impact
this will have on vaccine efficiency. This will provide useful
lessons for vaccine implementation strategies."

###

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Go here to see the original:
Genetics study reveals how bacteria behind serious childhood disease evolve to evade vaccines

Cardiac Stem Cell Transplant – Video

27-01-2012 21:30 TORONTO - Doctors have performed Ontario's first cardiac stem cell transplant using cells from the patient's own bone marrow.

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Cardiac Stem Cell Transplant - Video

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