#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);
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,
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
Drug delivery and beyond The power of nanoparticles is also being harnessed to fight life-threatening lung diseases, such as cystic fibrosis.
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.
and performing the repair. think having this will also reduce the incidence of residual lesions imperfections in repair by allowing us to simulate
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.
which includes the Shiley-Marcos Alzheimer Disease Research center, under the direction of Douglas Galasko, M d,
however, drugs could be encapsulated in protein cages that accumulate inside of a tumor and dissolve once heated.
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
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,
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.
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.
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
In the study, women who skipped chemo based on the test had less than a 1 percent chance of cancer recurring far away
"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.
and could seed a new cancer later. Doctors know that most of these women don't need chemo
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,
#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
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.
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.
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
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.
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.
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.
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,
if this can stabilize individuals with this disease, even if it gave them 10 more years of walking, that huge.
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
"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
more expensive devices so-called standard short-read technologies other researchers have shown that theye of high enough quality to infer full-length genomes from scratch, for the E coli bacterium, Influenza virus,
#Researchers Identify a New Culprit Behind Fibrosis An international team of researchers has identified a new molecule involved in skin fibrosis,
a life-threatening disease characterized by the inflammation and hardening of skin tissue. The new study is the first to investigate the role of this molecule in skin fibrosis
and paves the way toward new and improved therapies for the disease. The study reveals a new mechanism for the development of fibrosis in skin tissues
and could potentially be relevant to other organs that develop fibrosis such as the lungs, heart,
liver and kidney, said researchers. The team led by bioengineering professor Shyni Varghese at the University of California, San diego and Colin Jamora,
a biologist at the IFOM-instem Joint Research Laboratory in India, published the findings in the Oct 15 issue of Nature Communications. ee identified a new component that hasn previously been studied as a factor contributing to fibrosis,
said Varghese. his discovery gives us a new understanding of how fibrosis forms and could help us develop therapeutic strategies that are more effective than existing ones. ibrosis is a condition in which tough,
fibrous connective tissues develop in an organ, similar to scar tissues that form after injuries. The disease can affect various tissues
including those of the skin, lungs, heart and liver. Due to the development of tough, fibrous matter, fibrosis causes the affected tissues to stiffen,
swell, and eventually lose their normal functions. The exact mechanism by which fibrosis develops is understood not yet clearly,
and there are no proven cures or treatments for the disease. In this study, researchers discovered that a molecule called fibulin-5 played a role in the development of skin fibrosis in mice.
Fibulin-5 is responsible for the formation of elastin, a protein that enables skin to bounce back to its original shape after being stretched.
Elastin is a small component of connective tissues in the body and little is known about its contribution to fibrosis.
Since a large component of connective tissue is made of collagen, most research on the underlying cause of fibrosis has focused so far on the overproduction of collagen.
However, the role of less abundant proteins like elastin has been ignored largely, until now. linical trials to test the effectiveness of potential therapies for many known fibrotic diseases have so far been disappointing.
Our study points to a new way to target this debilitating disease, said Jamora. By focusing on elastin, the team discovered that the development of fibrosis in skin tissues was linked to a particular molecule:
fibulin-5. Researchers studied mice that were engineered genetically to develop skin fibrosis and found substantially higher levels of fibulin-5 in their skin tissues than in normal mice.
High levels of fibulin-5 were also found in the skin tissues of human patients with skin fibrosis.
Researchers explained that elevated levels of fibulin-5 caused elastin to form in abnormally large amounts,
and that higher elastin levels likely contributed to increased skin tissue inflammation and stiffening. Researchers also demonstrated that removing fibulin-5 from the genetically engineered mice before they developed skin fibrosis helped prevent all the symptoms of skin fibrosis including skin tissue inflammation
and stiffening from occurring. anipulating the fibulin-5 levels could be a therapeutic strategy to treat skin fibrosis,
said Varghese. ith further studies, we are looking to provide hope for a disease condition that contributes to approximately 30 percent of all deaths worldwide,
said Jamora. As a next step, researchers are exploring methods to inhibit the increase of fibulin-5
and determine whether fibulin-5 plays a role in fibrosis development in other organs besides the skin.
One of their goals is to translate this proof of concept study on mice to clinical trials in the future.
The work was supported by grants from the National Institute of Arthritis and Musculoskeletal and Skin diseases under the National institutes of health (NIH/NIAMS
Scleroderma Foundation, and core funds from instem and IFOM r
#Discovery Could Lead to Better Recovery After Stroke UCLA researchers have identified a molecule that, after a stroke,
which is the leading cause of serious long-term disability in adults. The five-year study, performed in an animal model,
and to RNA in the brain cells of people with other diseases. They found that GDF10 regulates a unique collection of molecules that improves recovery after stroke.
Stroke kills nearly 130,000 Americans each year one of every 20 deaths in the U s. according to the Centers for Disease Control.
#Radiotherapeutic Bandage Could Treat Skin cancer Research behind a new radiotherapeutic bandage that could potentially treat squamous cell carcinoma (SCC) cancer was presented Wednesday, at the American Association of Pharmaceutical Scientists (AAPS) Annual Meeting and Expo in Orlando.
After 15 days of monitoring tumor size, three out of 10 mice that wore the radioactive bandage had their tumors completely eliminated.
The seven other mice in that group had significantly smaller tumor volumes, compared to control groups,
which can require large and specialized equipment. hese bandages can be tailored individually for easy application on tumor lesions of all shapes and sizes,
This procedure could eventually also be extended to men who have lost their penises from penile cancer or as a last-resort treatment for severe erectile dysfunction due to medication side effects.
#Britain Becomes First Nation to Offer Meningitis B Vaccine After Tense Novartis AG Stand-Off The United kingdom will officially become the first country in the world to offer a vaccine for meningitis B after to infants covered under its national health system,
Meningitis causes severe neck pain after a bacterial infection of the lining surrounding the brain
Treating just one severe case of the disease can cost regulators more than $4. 5 million
and that means we can now go ahead this year with rolling out the meningitis B vaccine,
s Alectinib Shrank Tumors in Nearly Half of Patients With Specific Lung cancer Mutation Genentech Investigational Medicine Alectinib Shrank Tumors in Nearly Half of People With Specific Type of Lung cancer--Alectinib showed response rates of up to
its oral investigational anaplastic lymphoma kinase (ALK) inhibitor, shrank tumors (overall response rate; ORR: 50.0 percent and 47.8 percent, respectively) in people with advanced ALK-positive non-small cell lung cancer (NSCLC) whose disease had progressed following treatment with crizotinib.
In addition, alectinib was shown to shrink tumors in people whose cancer had spread to the central nervous system (CNS)( CNS ORR:
57.1 percent and 68.8 percent, respectively. People whose tumors shrank in response to alectinib continued to respond for a median of 11.2 and 7. 5 months, respectively (duration of response;
DOR). ) Alectinib demonstrated a safety profile consistent with that observed in previous studies. The most common adverse events (Grade 3 or higher occurring in at least 2 percent of people) were an increase in muscle enzymes (increased blood levels of creatine phosphokinase), increased liver enzymes
and shortness of breath (dyspnea. e plan to submit these data to the FDA this year to support alectinib as a potential new option for people
whose advanced ALK-positive lung cancer progressed on crizotinib. ancer spreads to the brain in about half of people with ALK-positive lung cancer,
and these studies suggest that alectinib can shrink tumors in people with this difficult-to-treat disease,
and the NP28761 study will be presented by Dr. Leena Gandhi, assistant professor of medicine, Dana-Farber Cancer Institute, Boston (Abstract#8019, Monday, June 1, 8: 00-11:30 A m. CDT).
whose disease progressed on crizotinib. Breakthrough Therapy Designation is designed to expedite the development and review of medicines intended to treat serious diseases
and to help ensure patients have access to them through FDA approval as soon as possible. ALEX, a global randomized Phase III study, is ongoing,
whose tumors were characterized as ALK-positive by an investigational companion immunohistochemistry (IHC) test being developed by Roche.
whose disease progressed on crizotinib. The study showed by assessment of an independent review committee an ORR in 50.0 percent of people treated with alectinib,
An investigator assessment also showed tumors shrank in 47.8 percent of people who received alectinib.
CNS tumors shrank in response to alectinib in 57.1 percent of people whose disease had spread to the brain or other parts of the CNS.
In addition, the people whose tumors shrank in response to alectinib continued to respond for a median of 11.2 months (DOR
immature data. The median progression-free survival (PFS) for people who received alectinib was 8. 9 months.
or higher adverse event was shortness of breath (dyspnea; 4 percent. About the NP28761 Study NP28761 is a Phase I/II North american, single-arm, open-label,
whose disease progressed on crizotinib. The study showed by assessment of an independent review committee an ORR in 47.8 percent of people treated with alectinib,
An investigator assessment showed tumors shrank in 46.0 percent of people who received alectinib. CNS tumors shrank in response to alectinib in 68.8 percent of people
whose disease had spread to the brain or other parts of the CNS. In addition the people whose tumors shrank in response to alectinib continued to respond for a median of 7. 5 months (DOR, immature data.
The immature median PFS was 6. 3 months (95 percent confidence interval CI 5. 5ot estimable.
Alectinib demonstrated a safety profile consistent with that observed in previous studies. The most common (occurring in at least 2 percent of people) Grade 3
5 percent) and shortness of breath (dyspnea; 3 percent. About Alectinib Alectinib (RG7853/AF-802/RO5424802/CH5424802) is an investigational oral medicine created at Chugai Kamakura Research Laboratories
whose tumors are identified as ALK-positive. ALK-positive NSCLC is often found in younger people who have a light
It is almost always found in people with a specific type of NSCLC called adenocarcinoma.
About Lung cancer According to the American Cancer Society, it is estimated that more than 221,000 Americans will be diagnosed with lung cancer in 2015,
when the disease is advanced in the stages. About Genentech in Lung cancer Lung cancer is a major area of focus and investment for Genentech,
medicines and tests that can help people with this deadly disease. Our goal is to provide an effective treatment option for every person diagnosed with lung cancer.
or to boost the immune system to combat the disease. About Genentech Founded more than 35 years ago
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