#New Leukemia Gene Stops Blood cells rowing Upuniversity of Manchester scientists have identified a gene FOXC1 that,
if switched on, causes more aggressive cancer in a fifth of acute myeloid leukemia (AML) patients, according to a Cancer Research UK study published in the journal Cancer cell.
The FOXC1 gene is switched normally on during embryonic development and is needed to turn cells into specialised tissues,
But this new research found that in certain patients with AML a type of blood cancer that affects white blood cells
This triggers the cancer to be more aggressive, as young cells are able to replicate more than mature cells causing cancer cells to grow faster
Of these, around 20 percent would have had the FOXC1 gene wrongly switched on in their cancer.
Dr. Tim Somervaille, lead author from the Cancer Research UK Manchester Institute at The University of Manchester,
which makes the cancer grow more rapidly. here are certain situations where this gene is necessary,
Nell Barrie, senior science communication manager at Cancer Research UK said: t essential that we continue to research basic biology to further understand how cells become cancerous.
The better we understand the nuts and bolts of each cancer, the sooner we can find new ways to stop it.
This study was funded by Cancer Research UK with additional funding from the charity Bloodwise which recently changed its name from Leukaemia & Lymphoma Research a
#chillesheelof Sickle cell Disease? Researchers from Dana-Farber/Boston Children Cancer and Blood disorders Center have found that changes to a small stretch of DNA may circumvent the genetic defect behind sickle cell disease.
The discovery, outlined in the journal Nature, opens a promising path for developing gene-editing approaches to treat the disease and other hemoglobin disorders.
This stretch of DNA, called an enhancer, controls a molecular switch that determines whether a red blood cell produces the adult form of hemoglobin
which in sickle cell disease is mutated or a fetal form that is unaffected by and counteracts the effects of the mutation.
Other studies have indicated that sickle-cell patients with elevated levels of fetal hemoglobin have a milder form of the disease.
The new study was led by Stuart Orkin of Dana-Farber/Boston Children, who is also David G. Nathan Professor of Pediatrics at Harvard Medical school (HMS);
Daniel Bauer, also of Dana-Farber/Boston Children and an assistant professor of pediatrics at HMS;
and Feng Zhang of the Broad Institute of MIT and Harvard. The research was spurred by the discovery that naturally occurring beneficial variations in the DNA sequence in this enhancer dial down the molecular switch only in red blood cells.
a pediatric hematologist/oncologist at Dana-Farber/Boston Children. ur goal was to break the enhancer,
when the journal Science published their report of the discovery of the enhancer that directs expression of BCL11A only in red blood cells. ee now targeted the modifier of the modifier of a disease-causing gene,
a leader of Dana-Farber/Boston Children who serves as chairman of pediatric oncology at the Dana-Farber Cancer Institute
and associate chief of hematology/oncology at Boston Children Hospital. t a very different approach to treating disease. he data provide proof of principle that targeted edits to BCL11A enhancer in blood stem cells could be an attractive approach
for curing sickle cell disease and related conditions. hese experiments may have revealed the genetic Achillesheel of sickle cell disease,
said Orkin. lterations to these specific portions of the enhancer have the same effect as knocking the whole enhancer out altogether,
suggesting that this could be a promising strategy to translate into the clinic.?Although fixing the sickle mutation itself would seem the most straightforward approach,
the ultimate targets for this kind of therapy, are much more resistant to genetic repair than to genetic disruption, Bauer added. herefore,
to combat disease, for filtering fresh drinking water, and much more. Now, researchers from MIT and the Federal University of Goias in Brazil have developed a new technique that uses ultraviolet (UV LIGHT to extract man-made pollutants from soil and water.
Lead author Nicolas Bertrand, a former professor at MIT Koch Institute for Integrative Cancer Research, told Laboutlook that he
which can potentially result in toxic by-products. Plus, these chemical degradation processes do not work on all types of chemicals. hen unusual/unheard of molecules are found as contaminants (for example, the chemical spill in Elk River, WV, in January 2014),
Drug delivery and beyond The power of nanoparticles is also being harnessed to fight life-threatening lung diseases, such as cystic fibrosis.
and bacterianfortunately prevents targeted therapies from reaching the lungs. Other attempts to penetrate the barrier with nanoparticles were unsuccessful
a biomedical engineer and faculty member at the Center for Nanomedicine at the Wilmer Eye Institute at Johns Hopkins. Researchers funded by the National Institute of Biomedical Imaging and Bioengineering meanwhile,
stopped brain cancer in rats by delivering gene therapy through nanoparticles. The nanoparticles deliver genes for an enzyme that converts a prodrug called ganciclovir into a glioma cell killer.
There is no reliable treatment for glioma which has a 5-year survival rate of 12 percent.
As in cystic fibrosis, a current delivery method of gene therapy relies on using a virus, which can pose significant safety risks.
Challenges remain Bertrand and other lead author Ferdinand Brandl both left MIT to join pharmacy schools in Quebec city, Canada and Regensburg, Germany, respectively.
#Personalized Heart Models for Surgical Planning Researchers at MIT and Boston Children Hospital have developed a system that can take MRI scans of a patient heart and,
physical model that surgeons can use to plan surgery. The models could provide a more intuitive way for surgeons to assess
and prepare for the anatomical idiosyncrasies of individual patients. ur collaborators are convinced that this will make a difference,
This fall, seven cardiac surgeons at Boston Children Hospital will participate in a study intended to evaluate the modelsusefulness.
Golland and her colleagues will describe their new system at the International Conference on Medical Image Computing and Computer Assisted Intervention in October.
Medhi Moghari, a physicist at Boston Children Hospital, developed new procedures that increase the precision of MRI scans tenfold
and Andrew Powell, a cardiologist at the hospital, leads the project clinical work. The work was funded by both Boston Children Hospital and by Harvard Catalyst,
a consortium aimed at rapidly moving scientific innovation into the clinic. MRI data consist of a series of cross sections of a three-dimensional object.
Like a black-and-white photograph, each cross section has regions of dark and light, and the boundaries between those regions may indicate the edges of anatomical structures.
But general-purpose image-segmentation algorithms aren reliable enough to produce the very precise models that surgical planning requires.
The problem with that approach is that many of the cardiac patients at Boston Children Hospital require surgery precisely
Inferences from a generic model could obscure the very features that matter most to the surgeon.
The clinical study in the fall will involve MRIS from 10 patients who have received already treatment at Boston Children Hospital.
Each of seven surgeons will be given data on all 10 patients some probably, more than once. That data will include the raw MRI scans and, on a randomized basis,
the surgeons will draw up surgical plans, which will be compared with documentation of the interventions that were performed on each of the patients.
whether 3-D-printed physical models can actually improve surgical outcomes. bsolutely, a 3-D model would indeed help,
a cardiac surgeon at Boston Children Hospital who is not a co-author on the new paper. e have used this type of model in a few patients,
Doing this really helped with the real surgery in terms of reducing the amount of time spent examining the heart
and performing the repair. think having this will also reduce the incidence of residual lesions imperfections in repair by allowing us to simulate
explained M. Laura Feltri, M d.,senior author on the paper and an HJKRI researcher and professor of biochemistry and neurology in the Jacobs School of medicine and Biomedical sciences at UB. o study myelin,
And studying this interface is critical in certain diseases she added. n Krabbe, for example, the problem is not just that there isn sufficient myelin,
The discovery will help improve the understanding of and development of new treatments for myelin diseases.
Feltri explained. t provides a glimpse into the social life of cells. his work has important implications for diseases of myelin such as Krabbe disease,
and other neurodegenerative diseases, because the communication between glial cells and neurons is vital for neuroprotection,
extending far away from the glial cell. his has profound implications for glial disease like Krabbe, Charcot-Marie Tooth, peripheral neuropathies or Multiple sclerosis,
said Poitelon. imilarly, neurodegenerative diseases like Huntington disease or Lou Gehrig's, that were considered uniquely diseases of neurons in the past,
are considered now diseases of cellular communications between neurons and glial cells. The work was funded by the National institutes of health o
#Down syndrome Research Untangles Therapeutic Possibilities for Alzheimer More than five million Americans are living with Alzheimer disease (AD.
Of them, 400,000 also have Down syndrome. Both groups have similar looking brains with higher levels of the protein beta amyloid.
In fact, patients with Down syndrome develop the abnormal protein at twice the rate. Results of a pilot study, published in the September issue of Frontiers in Behavioral neuroscience, confirms the pathogenic role of beta amyloid in dementia as seen in both AD
and Down syndrome. eople with Down syndrome represent the world largest population of predetermined Alzheimer disease. By studying these individuals,
we can develop insights into how Alzheimer disease naturally progresses and potential drug targets, said principal investigator Michael Rafii, M d.,Ph d.,assistant professor of neurosciences and interim co-director of the Alzheimer Disease Cooperative Study (ADCS) at UC San diego. The 3-year study
, called The down Syndrome Biomarker Initiative (DSBI), involved twelve participants between the ages of 30 and 60 with Down syndrome,
to study their aging process. The study focused on how soon protein plaques developed, where in the brain they were located and the effects of the plaques on cognition.
To quantify how much amyloid was present in the brain, the study included extensive neuroimaging such as volumetric MRI
amyloid PET, FDG PET, and retinal amyloid imaging. his study shows some of the earliest known Alzheimer disease biomarker changes in adults with Down syndrome
and underscores the need for additional studies, said Rafii. his study will set the stage for the first clinical trial of anti-beta amyloid therapy in the preclinical treatment of Alzheimer disease in adults with Down syndrome.
AD is believed to occur from the toxic buildup of beta amyloid. There are many forms of AD that are inherited genetically,
including Down syndrome. People with Down syndrome have an extra copy of the 21st chromosome where the production gene for the beta amyloid protein resides.
The ADCS was founded by the late Leon Thal M d.,a world leader in Alzheimer research, to promote the discovery, development and testing of new drugs for the treatment of AD.
It is part of a larger AD research and treatment effort at UC San diego, which includes the Shiley-Marcos Alzheimer Disease Research center, under the direction of Douglas Galasko, M d,
. and Edward Koo, M d, . and the Memory Disorders Clinic, headed by Rafii. Studies of AD and other neurodegenerative disorders at UC San diego are part of the clinical
and bench strength of the UC System. In the past five years more than 130 UC investigators have conducted 350 research projects in the AD field, receiving roughly $339 million in funding support for both basic research and clinical trials.
Funding support for this research came, in part, from Janssen Research and development, LLC and the National institutes of health t
biotechnology and medical treatments. The study appears September 21 in Nature Materials. he very simple design rules that we have discovered provide a powerful engineering tool for many biomedical
and biotechnology applications, said Ashutosh Chilkoti, chair of the Department of Biomedical engineering at Duke. e can now,
however, drugs could be encapsulated in protein cages that accumulate inside of a tumor and dissolve once heated.
they could break down into additional therapeutic agents. We can now design two things into one.
James Collins, the Termeer Professor of Medical Engineering and Science in MIT Department of Biological engineering and Institute of Medical Engineering and Science (IMES).
To achieve this, the researchers could program the system to produce proteins that alert immune cells to fight the infection,
a professor of biotechnology and bioengineering at The swiss Federal Institute of technology in Zurich, described this experiment as an legant proof of conceptthat could lead to greatly improved treatments for viral infection. entinel designer cells engineered with the DNA sense
This would represent a quantum leap in antiviral therapy, said Fussenegger, who was involved not in the study.
While treating diseases using this system is likely many years away, it could be used much sooner as a research tool,
a finding that may have ramifications for preventing stroke and the early diagnoses of Alzheimer disease.
an associate professor of neurology and a researcher in the Ahmanson-Lovelace Brain Mapping Center at UCLA. ascular compliance is a useful marker for a number of cardiovascular diseases,
such as hypertension and diabetes, Wang said. rowing evidence suggests intracranial vascular pathology also may be associated with the origin and progression of cerebrovascular disorders and neurodegenerative diseases, such as Alzheimer disease,
the aorta. e hope our technique can provide an early marker for a number of socioeconomically important diseases like Alzheimer,
an assistant researcher in the UCLA Department of Neurology. number of studies suggest that vascular dysfunctions,
The development of early bio-or imaging markers for Alzheimer is of great importance for slowing disease progression.
The need for a new approach to treatment of Alzheimer disease is urgent. Alzheimer is the most common age-related dementia
and the number of cases in the United states is expected to increase from the current number of about five to six million to 15 million by 2050.
The costs to family life and on the health care system are enormous. Alzheimer and other dementias are projected to cost the United states $226 billion in 2015 alone,
with that number rising to as high as $1. 1 trillion in 2050. The study was funded by the National institutes of health and the California Department of public health m
and director of the Eli and Edyth Broad Center of Regeneration Medicine and Stem Cell Research at UCSF. ooking at these early stages in development is the best opportunity to understand our brain evolution.
development and disease The discovery of human orgsself-renewing niche and remarkable generative capacity reinforces the idea that these cells may have been responsible for the expansion of the cerebral cortex in our primate ancestors,
Such techniques have the potential to enhance research into the origins of neurodevelopmental and neuropsychiatric disorders such as microcephaly, lissencephaly, autism and schizophrenia,
which are thought to affect cell types not found in the mouse models that are used often to study such diseases.
a common brain cancer whose ability to grow, migrate and hack into the brain blood supply appears to rely on a pattern of gene activity similar to that now identified in these neural stem cells. he cerebral cortex is so different in humans than in mice,
or in diseases of the cerebral cortex, this is a really exciting discovery. The study represents the first salvo of a larger BRAIN INITIATIVE-funded project in Kriegstein lab to understand the thousands of different cell types that occupy the developing human brain t the moment
and the Damon Runyon Cancer Research Foundation e
#Gene Test Finds Which Breast cancer Patients Can Skip Chemo Many women with early-stage breast cancer can skip chemotherapy without hurting their odds of beating the disease-good news from a major study that shows
the value of a gene-activity test to gauge each patient's risk. The test accurately identified a group of women
whose cancers are so likely to respond to hormone-blocking drugs that adding chemo would do little
if any good while exposing them to side effects and other health risks. In the study, women who skipped chemo based on the test had less than a 1 percent chance of cancer recurring far away
such as the liver or lungs, within the next five years.""You can't do better than that,
"said the study leader, Dr. Joseph Sparano of Montefiore Medical center in New york. An independent expert, Dr. Clifford Hudis of New york's Memorial Sloan Kettering Cancer Center, agreed."
The study was sponsored by the National Cancer Institute. Results were published online Monday by the New england Journal of Medicine
and discussed at the European Cancer Congress in Vienna. The study involved the most common type of breast cancer-early stage, without spread to lymph nodes;
hormone-positive, meaning the tumor's growth is fueled by estrogen or progesterone; and not the type that the drug Herceptin targets.
Each year, more than 100,000 women in the United states alone are diagnosed with this. The usual treatment is followed surgery by years of a hormone-blocking drug.
But many women also are urged to have chemo, to help kill any stray cancer cells that may have spread beyond the breast
and could seed a new cancer later. Doctors know that most of these women don't need chemo
but there are no great ways to tell who can safely skip it. A California company, Genomic Health Inc.
and others that indicate a likely response to hormone therapy treatment. Past studies have looked at how women classified as low,
Women in the middle group were assigned randomly to get hormone therapy alone or to add chemo. Results on these groups are not yet ready-the study is continuing.
About 94 percent were free of any invasive cancer, including new cancers at other sites or in the opposite breast."
"These patients who had low risk scores by Oncotype did extraordinarily well at five years,
"Dr. Karen Beckerman, a New york city obstetrician diagnosed with breast cancer in 2011, said she was advised to have feared chemo
A doctor suggested the gene test and she scored very low for recurrence risk.""I was convinced that there was no indication for chemotherapy.
Mary Lou Smith, a breast cancer survivor and advocate who helped design the trial for ECOG, the Eastern Cooperative Oncology Group,
#Pseudo-platelet Drug Delivery System Targets Cancer Researchers are using patients own platelet membranes to coat drugs and use as nanovehicles for anticancer treatments.
not only attack the main tumor site, but are more likely to find and attach themselves to tumor cells circulating in the bloodstream essentially attacking new tumors before they start,
said Quanyin Hu, lead author of the paper and a Ph d. student in the joint biomedical engineering program.
Studies on mice found that using the combination drug delivery system in the form of a pseudo-platelet was significantly more effective against large tumors
and circulating tumor cells than using the drugs in a nanogel delivery system without the platelet membrane. e like to do additional preclinical testing on this technique,
such as those targeting cardiovascular diseases, in which the platelet membrane could help us target relevant sites in the body. i
#An Accessible Approach to Making a Mini-brain If you need a working miniature brain say for drug testing, to test neural tissue transplants,
She wanted to develop a testbed for her lab basic biomedical research. She was interested, for example,
as has been proposed to treat Parkinson disease. Boutin was interested in building working 3-D cell cultures to study how adult neural stem cells develop.
#Identifying Cancer's Food Sensors May Help Halt Tumor Growth Oxford university researchers have identified a protein used by tumors to help them detect food supplies.
A team from Oxford university's Department of Physiology, Anatomy and Genetics led by Dr. Deborah Goberdhan worked with cancer doctor and researcher, Professor Adrian Harris,
and acquire nutrients is critical for a cancer to grow. Dr. Goberdhan's and Prof Harris's groups collaborated to develop an antibody that could be used to highlight PAT4 in human tissue samples.
This was used then to study anonymous tumor samples taken from patients with colorectal cancer, a common form of the disease.
The results were compared to the known outcomes for the patients. Those who had higher levels of PAT4 in their tumors did less well than those with lower levels-being more likely to relapse and die.
The researchers then looked at what happened when PAT4 levels were reduced. They showed that by reducing PAT4 levels,
cancerous tumors grew more slowly. Dr. Goberdhan said:''These findings support each other. Not only do higher levels of PAT4 mean a worse outcome,
'The research, funded by Cancer Research UK, the Wellcome Trust and the Biotechnology and Biological sciences Research Council will be published in the science journal Oncogene on 5 october 2015.
It continues and may eventually provide a way of increasing survival from cancer r
#Scientists Grow Old Brain cells from Patientsskin Cells Researchers from the Salk Institute for Biological Studies have found a way to create aged brain cells from patientsskin samples for the first time.
which plays a role in neurodegenerative diseases, were lower in neurons derived from older patients.
#RNA Editing Technique Treats Severe Form of Muscular dystrophy An RNA editing technique called xon skippinghas shown preliminary success in treating a rare and severe form of muscular dystrophy that currently has no treatment
, based on a new study from Northwestern Medicine and the University of Chicago. Children with the disease lose significant muscle strength early in life.
The discovery stems from the persistence of a father--Scott Frewing --whose two sons were diagnosed with a rare and severe form of muscular dystrophy
and his search for and partnership with the genetic scientist--Dr. Elizabeth Mcnally--who studies the disease.
The rare form of the disease is Limb Girdle Muscular dystrophy Type 2c. Mcnally is director of the Center for Genetic Medicine at Northwestern University Feinberg School of medicine and the former director of the Institute of Cardiovascular Research at UCHICAGO,
which is where she began the research. She also is a physician at Northwestern Medicine.
The new therapy has been licensed to the Kurt+Peter Foundation, which supports Limb Girdle Muscular dystrophy 2c research
and is being developed with the goal of clinical trials and eventual commercial treatments. The boysfamily and friends started the foundation in 2010 to apply promising research to Limb Girdle Muscular dystrophy Type 2c.
The finding was published Oct 12 in the Journal of Clinical Investigation. Originally developed to treat Duchenne Muscular dystrophy
another form of muscle disease, exon skipping coaxes cells to kipover abnormal sections of the genetic code,
so that the body can make a functional protein, which in this case, governs muscle function and development.
In the paper, lead investigator Mcnally summarizes her research in fruit flies and mouse models. Her team,
which included Quan Gao a University of Chicago graduate student and Dr. Eugene Wyatt, a postdoctoral fellow at Northwestern, demonstrated that protein made from exon skipping was functional to stabilize and slow progress of the disease.
Working with human cells obtained from individuals with the disease the team showed that exon skipping can be induced successfully with antisense compounds. e recognize that this is version 1. 0,
Mcnally said. ut if this can stabilize individuals with this disease, even if it gave them 10 more years of walking, that huge.
That would also mean 20 to 30 more years of breathing, and that is hugely beneficial for the patients and for their parents who are caring for them.
Limb Girdle Muscular dystrophy is caused by mutations in any of at least 15 different genes and affects 1 in 14,
Individuals with Limb Girdle Muscular dystrophy Type 2c have detrimental mutations in a key protein, gamma sarcoglycan,
The disease is an inherited disorder that is found in patients around the world and is prevalent in France, northern Africa and parts of South america.
Although children with the disease are able to live normally at young ages, over time their deteriorating muscles prevent them from engaging in a number of typical childhood activities.
Many of the children with the disease are in a wheelchair in their mid-to-late teenage years.
Kurt and Peter, were diagnosed with the disease in 2009 and 2010 respectively. The boysfamily and friends started the Kurt+Peter Foundation in 2010 to apply promising research to Limb Girdle Muscular dystrophy Type 2c.
In 2010, Frewing, president of the Kurt+Peter Foundation, began proactively looking for scientists researching Limb Girdle Muscular dystrophy Type 2c and similar forms of muscular dystrophy,
with hope of supporting research to find a treatment. When Frewing approached Mcnally in 2010,
she was one of the only researchers worldwide working on the disease. Frewing had heard of exon skipping
Mcnally didn think that exon skipping would make the tiny relevant protein in the disease functional.
and development of this potential therapy. here are always new ways to treat a disease,
Mcnally said. his partnership is a perfect example of how precision medicine can help address very rare diseases.
Northwestern University and The Kurt+Peter Foundation will support the development of therapies for Limb Girdle Muscular dystrophy Type 2c.
The Foundation will continue to partner with Mcnally to further test exon skipping in Limb Girdle Muscular dystrophy Type 2c
and develop the therapy. Mcnally and Frewing are looking to clear the hurdles necessary to begin clinical trials.
"This is a terrible disease affecting children worldwide, and we hope to soon be able to provide families with treatment techniques that can lessen the disease severity.
The agreement among the Kurt+Peter Foundation, UCHICAGO and Northwestern is the first license UCHICAGO has executed with a foundation. his arrangement is a great example of how research institutions
and resources to the table and work together to develop new therapeutics for small groups of patients,
Overtext Web Module V3.0 Alpha
Copyright Semantic-Knowledge, 1994-2011