Archive for November, 2014

Sue Walters only chance of survival from leukaemiawas a stem cell transplant No one in her family matched her tissue type Doctors searched the worldwide donor register They found Nicola Gerber, a student from Mechern, near the French border

By Chloe Lambert for the Daily Mail

Published: 20:21 EST, 17 November 2014 | Updated: 04:28 EST, 18 November 2014

578 shares

17

View comments

When Sue Walters was diagnosed with leukaemia, she hoped that the best of medical science would be used to cure it.

What she could never have anticipated was that her life would be saved by an 18-year-old boy from a remote German village.

Sues only chance of survival was a stem cell transplant previously known as a bone marrow transplant.

What Nicola has done is amazing it really is a gift of life. If I hadnt had the transplant, it was unlikely Id have lived beyond three months,' said Sue Walters of her donor Nicola Gerber

Read this article:
Donor: The German teenager who saved my life

By: Adam Feuerstein | 11/18/14 - 10:16 AM EST

Inject a cocktail of undifferentiated stem cellsinto a patient who has suffered a heart attack, and days or even weekslater, the stem cells transform into cardiac cells and rebuild the damaged heart muscle. Months later, the patient has a "new" healthy heart.It's a great story. But so far, the proof remains elusive though not for a lack of trying.

The latest company to fulfill this ambitious scenario is NeoStem (NBS) which presented disappointing (but not surprising) results from a small study of its proprietary cardiac stem-cell therapy NBS10 at the American Heart Association annual meeting Monday. NeoStem tried to put some positive spin on the bad news but shares are down 25% to $5.10.

NBS10, formerly known as AMR-001, is an autologous stem-cell therapy derived from a patient's own bone marrow. When injected back into patients following a heart attack, the stem cells are supposed torestore blood flow, rebuild damaged cardiac muscle and improve function.

Except in NeoStem's study, NBS10 fell short on two primary endpoints designed to assess the therapy's efficacy. The study used non-invasive imaging to assess blood flow through the heart, six months after a single infusion of NBS10 or a placebo. There was no difference between NBS and placebo, NeoStem said.

The study's other co-primary efficacy endpoint was a measurement of adverse cardiac "MACE" events --defined as cardiovascular death, a repeatheart attack, heart failure hospitalization and coronary revascularization. To date, 17% of patientstreated with NBS10 have suffered a MACE event compared to 19% of patients in the placebo arm -- a difference which was not statistically significant.

NeoStem said NBS10 therapy was safe relative to placebo and that no patients treated with the stem cells have died compared to three deaths in the placebo patients. But with only one year of follow up on a small number of patients, any claims about a mortality benefit are clinically meaningless.

Read more here:
NeoStem's Stem Cell Therapy Fails Mid-Stage Heart Attack Study

PUBLIC RELEASE DATE:

17-Nov-2014

Contact: Sally Stewart sally.stewart@cshs.org 310-248-6566 Cedars-Sinai Medical Center @cedarssinai

LOS ANGELES (NOV. 17, 2014) - Researchers at the Cedars-Sinai Heart Institute have found that injections of cardiac stem cells might help reverse heart damage caused by Duchenne muscular dystrophy, potentially resulting in a longer life expectancy for patients with the chronic muscle-wasting disease.

The study results were presented today at a Breaking Basic Science presentation during the American Heart Association Scientific Sessions in Chicago. After laboratory mice with Duchenne muscular dystrophy were infused with cardiac stem cells, the mice showed steady, marked improvement in heart function and increased exercise capacity.

Duchenne muscular dystrophy, which affects 1 in 3,600 boys, is a neuromuscular disease caused by a shortage of a protein called dystrophin, leading to progressive muscle weakness. Most Duchenne patients lose their ability to walk by age 12. Average life expectancy is about 25. The cause of death often is heart failure because the dystrophin deficiency leads to cardiomyopathy, a weakness of the heart muscle that makes the heart less able to pump blood and maintain a regular rhythm.

"Most research into treatments for Duchenne muscular dystrophy patients has focused on the skeletal muscle aspects of the disease, but more often than not, the cause of death has been the heart failure that affects Duchenne patients," said Eduardo Marbn, MD, PhD, director of the Cedars-Sinai Heart Institute and study leader. "Currently, there is no treatment to address the loss of functional heart muscle in these patients."

During the past five years, the Cedars-Sinai Heart Institute has become a world leader in studying the use of stem cells to regenerate heart muscle in patients who have had heart attacks. In 2009, Marbn and his team completed the world's first procedure in which a patient's own heart tissue was used to grow specialized heart stem cells. The specialized cells were then injected back into the patient's heart in an effort to repair and regrow healthy muscle in a heart that had been injured by a heart attack. Results, published in The Lancet in 2012, showed that one year after receiving the experimental stem cell treatment, heart attack patients demonstrated a significant reduction in the size of the scar left on the heart muscle.

Earlier this year, Heart Institute researchers began a new study, called ALLSTAR, in which heart attack patients are being infused with allogeneic stem cells, which are derived from donor-quality hearts.

Recently, the Heart Institute opened the nation's first Regenerative Medicine Clinic, designed to match heart and vascular disease patients with appropriate stem cell clinical trials being conducted at Cedars-Sinai and other institutions.

Read the rest here:
Cardiac stem cell therapy may heal heart damage caused by Duchenne muscular dystrophy

Using next generation gene sequencing techniques, cancer researchers at UT Southwestern Medical Center have identified more than 3,000 new mutations involved in certain kidney cancers, findings that help explain the diversity of cancer behaviors.

"These studies, which were performed in collaboration with Genentech Inc., identify novel therapeutic targets and suggest that predisposition to kidney cancer across species may be explained, at least in part, by the location of tumor suppressor genes with respect to one another in the genome," said Dr. James Brugarolas, Associate Professor of Internal Medicine and Developmental Biology, who leads UT Southwestern's Kidney Cancer Program at the Harold C. Simmons Cancer Center.

The scientists' findings are outlined in separate reports in the Proceedings of the National Academy of Sciences and Nature Genetics.

More than 250,000 individuals worldwide are diagnosed with kidney cancer every year, with lifetime risk of kidney cancer in the US estimated at 1.6 percent. Most kidney tumors are renal cell carcinomas, which when metastatic remain largely incurable.

Researchers with UT Southwestern's Kidney Cancer Program had previously identified a critical gene called BAP1 that is intimately tied to kidney cancer formation. Their latest research shows how BAP1 interacts with a second gene, VHL, to transform a normal kidney cell into a cancer cell, which in part appears to be based on the two gene's close proximity in humans, said Dr. Brugarolas, a Virginia Murchison Linthicum Endowed Scholar in Medical Research.

The newest findings suggest that the transformation begins with a mutation in one of the two copies of VHL, which is the most frequently mutated gene in the most common form of kidney cancer, clear cell type, which accounts for about 75 percent of kidney cancers. The VHL mutation is followed by a loss of the corresponding chromosome arm containing the second copy of VHL, as well as several other genes including PBRM1 and BAP1. This step eliminates the remaining copy of VHL and along with it, one of the two copies of PBRM1 and BAP1, two important genes that protect the kidney from cancer development. The subsequent mutation of the remaining copy of BAP1 leads to aggressive tumors, whereas mutation of the remaining copy of PBRM1 induces less aggressive tumors, said Dr. Payal Kapur, a key investigator of both studies who is an Associate Professor of Pathology and Urology, and the Pathology co-Leader of the Kidney Cancer Program.

This model also explains why humans born with a mutation in VHL have a high likelihood of developing kidney cancer during their life time. In these individuals, all kidney cells are already deficient for one VHL copy and a single deletion eliminates the second copy, along with a copy of BAP1 and PBRM1. In contrast, in other animals, these three genes are located on different chromosomes and thus more mutational events are required for their inactivation than in humans. Consistent with this notion, when UT Southwestern researchers mutated VHL and BAP1 together, kidney cancer resulted in animals.

In a second collaborative study with Genentech Inc., published in Nature Genetics, investigators implicated several genes for the first time in non-clear cell kidney cancer, a less common type that accounts for about 25 percent of kidney cancers. Researchers identified a gene signature that can help differentiate subtypes of non-clear cell tumors to better define their behavior. Specifically, the researchers characterized alterations from 167 human primary non-clear cell renal cell carcinomas, identifying 16 significantly mutated genes in non-clear cell kidney cancer that may pave the way for the development of novel therapies. The research team also identified a five-gene set that enabled molecular classifications of tumor subtypes, along with a potential therapeutic role for BIRC7 inhibitors for future study.

Story Source:

The above story is based on materials provided by UT Southwestern Medical Center. Note: Materials may be edited for content and length.

See more here:
Gene Mutations and Process for How Kidney Tumors Develop identified

An international research consortium has discovered a new gene underlying progressive myoclonus epilepsy, one of the most devastating forms of epilepsy. The study showed that a single mutation in a potassium ion channel gene underlies a substantial proportion of unsolved cases. It is estimated that the mutation is carried by hundreds of patients worldwide. The study utilized modern DNA sequencing technologies, which have revolutionized genetic research of rare, severe diseases.

A study led by researchers at University of Helsinki, Finland and Universities of Melbourne and South Australia has identified a new gene for a progressive form of epilepsy. The findings of this international collaborative effort have been published today, 17 November 2014, in Nature Genetics.

Progressive myoclonus epilepsies (PME) are rare, inherited, and usually childhood-onset neurodegenerative diseases whose core symptoms are epileptic seizures and debilitating involuntary muscle twitching (myoclonus). The goal of the international collaborative study was to identify underlying genetic causes in 84 PME patients using DNA sequencing targeting the protein coding elements of the human genome.

Overall, a genetic diagnosis was reached for almost one third of these hitherto unsolved patients. Findings of the study shed light on molecular genetic basis of progressive epilepsy, which aids in diagnostics and potential therapeutic interventions of the disease. The study also shows that modern DNA technologies are powerful in dissecting the underlying genetic causes of severe diseases.

The most important and surprising finding of the study was that a single mutation in a potassium channel encoding gene KCNC1 explains a significant proportion of unsolved PME cases. The mutation was found in a total of 13 patients and was not inherited from parents -- instead it has emerged in a germ cell of one of the parents or in the fertilized egg. Each individual has dozens of these new, "de novo", mutations but they are rarely disease causing. The researchers estimate that this mutation occurs in approximately 1 out of every 5.7 million conceptions, indicating that at least hundreds of patients could have this mutation globally.

"A fascinating aspect of this finding is that this single mutation can be found in several patients all over the world. The mutation site is an example of a 'mutation hotspot' of the genome -- a DNA nucleotide which is more prone for alterations," says Professor Anna-Elina Lehesjoki, the corresponding principal investigator of the study in University of Helsinki and Folkhlsan Research Center, Finland.

The new mutation identified in the study disrupts the function of a potassium channel, KV3.1, which has a central role in signal transmission in the brain. The likely consequence of the mutation is that inhibitory signals in certain parts of patient brain are reduced, which makes patients susceptible to epileptic seizures and myoclonus starting in childhood. In addition, the mutation causes degeneration of the cerebellum and subtle cognitive decline in some of the patients.

"The fact that the mutation occurs in a well-characterized ion channel gives hope to development of targeted therapy. There are anti-epileptic drugs in the market that target other similar ion channels and follow-up research aims to discover a way to rescue the function of the channel in PME patients," says Professor Lehesjoki.

The researchers of the project emphasize the importance of international collaboration for the study. "This study shows the power of combining sample collections and knowledge from different countries," says Professor Samuel Berkovic, University of Melbourne, who coordinated the patient sample collection spanning over 20 years and involving multiple epilepsy centers worldwide.

The central research institutes participating in the study were University of Helsinki, Institute for Molecular Medicine Finland FIMM and Folkhlsan Research Center (Finland), Universities of Melbourne and South Australia (Australia), Wellcome Trust Sanger Institute (UK), University of Tbingen (Germany) and several universities in Italy.

Go here to see the original:
A new genetic cause for a progressive form of epilepsy identified

Genetic Engineering - Restriction Enzymes - Part 3 - Anytime Education
http://www.anytimeeducation.com for more awesome free biology lessons. http://www.twitter.com/James_Dundon http://www.facebook.com/anytimeeducation Restriction enzymes, also known as ...

By: James Dundon

Follow this link:
Genetic Engineering - Restriction Enzymes - Part 3 - Anytime Education - Video

Wheat diseases caused by a host of viruses that might include wheat streak mosaic, triticum mosaic, soil-borne mosaic and barley yellow dwarf could cost producers 5 to 10 percent or more in yield reductions per crop, but a major advance in developing broad disease-resistant wheat is on the horizon.

John Fellers, molecular biologist for the U.S. Department of Agriculture's Agricultural Research Service, and Harold Trick, plant geneticist for Kansas State University, have led an effort to develop a patent-pending genetic engineering technology that builds resistance to certain viruses in the wheat plant itself. And although genetically engineered wheat is not an option in the market today, their research is building this resistance in non-genetically engineered wheat lines as well.

"(Wheat viruses) are a serious problem," Trick said. "Wheat streak mosaic virus is one of the most devastating viruses we have. It's prevalent this year. In addition to that, we have several other diseases, triticum mosaic virus and soil-borne mosaic virus, that are serious diseases."

Knowing how costly these diseases can be for producers, Fellers has worked on finding solutions for resistance throughout his career. As a doctoral student at the University of Kentucky, he used a technology in his research called pathogen-derived resistance, or RNA-mediated resistance -- a process that requires putting a piece of a virus into a plant to make it resistant to that particular virus. Most of the viruses that infect wheat are RNA viruses, he said.

"The plant has its own biological defense system," Fellers said. "We were just triggering that with this technology."

Now Fellers, with the help of Trick, his wheat transformation facility and K-State graduate students, have developed transgenic wheat lines that contain small pieces of wheat streak mosaic virus and triticum mosaic virus RNA.

"It's kind of like forming a hairpin of RNA," Fellers said. "What happens is the plant recognizes this RNA isn't right, so it clips a piece of it and chops it up, but then it keeps a copy for itself. Then we have a resistance element."

Fellers compared the process to the old days of viewing most wanted posters on the post office wall. The piece of foreign RNA from the virus, which is a parasite, is one of those most wanted posters. Because the virus is a parasite, it has to seize or hijack part of the plant system to make proteins that it needs to replicate.

When the virus comes into the plant, the plant holds up that poster from the post office wall, recognizes the virus, and doesn't allow the virus to replicate and go through its lifecycle.

A broad resistance goal

Original post:
Helping wheat defend itself against damaging viruses

worldhealth.net

SOUTH BEND, Ind.--- In 1990 the Human Genome Project started.

It was a massive scientific undertaking that aimed to identify and map out the body's complete set of DNA.

This research has paved the way for new genetic discoveries, and one of those has allowed scientists to study how to fix bad chromosomes.

Case Western Reserve University scientist, Anthony Wynshaw-Boris, is studying how to repair damaged chromosomes.

Our bodies contain 23 pairs of chromosomes, 46 in total, but if chromosomes are damaged, they can cause birth defects, disabilities, growth problems and even death.

Wynshaw-Boris is taking skin cells and reprogramming them to work like embryonic stem cells, which can grow into different cell types.

"We are taking an adults, or a child's, skin cells, said Wynshaw-Boris. We are not causing any loss of an embryo, and you're taking those skin cells to make a stem cell."

Scientists studied patients with a specific defective chromosome that was shaped like a ring. They took the patients' skin cells and reprogrammed them into embryonic-like cells in the lab.

They found this process caused the damaged "ring" chromosomes to be replaced by normal chromosomes.

View post:
New DNA discovery could lead to chromosome therapies in the future

November 18, 2014

Provided by Michael McCarthy, University of Washington Health Sciences/UW Medicine

Genetic analysis unveils airway and lung responses to pandemic flu and cystic fibrosis

In what is likely to be a major step forward in the study of influenza, cystic fibrosis and other human diseases, an international research effort has sequenced the ferret genome. The sequence was then used to analyze how the flu and cystic fibrosis affect respiratory tissues at the cellular level.

The National Institute of Allergy and Infectious Diseases, of the National Institutes of Health, funded the project, which was coordinated by Michael Katze and Xinxia Peng at the University of Washington in Seattle and Federica Di Palma and Jessica Alfoldi at the Broad Institute of MIT and Harvard.

The sequencing of the ferret genome is a big deal, said Michael Katze, UW professor of microbiology, who led the research effort. Every time you sequence a genome, it allows you to answer a wide range of questions you couldnt before. Having the genome changes a field forever.

Ferrets have long been considered the best animal model for studying a number of human diseases, particularly influenza, because the strains that infect humans also infect ferrets, These infections spread from ferret to ferret much as they do from human to human.

In the study, scientists at Di Palma and Alfoldi of the Broad Institute first sequenced and annotated the genome of a domestic sable ferret (Mustela putorius furo). They then collaborated with the Katze group on the subsequent analysis. A technique called transcriptome analysis identifies all the RNA that is being produced, or transcribed, from areas of the genome that are activated at any moment. This makes it possible to see how the ferret cells are responding when challenged by influenza and cystic fibrosis.

By creating a high quality genome and transcriptome resource for the ferret, we have demonstrated how studies in non-conventional model organisms can facilitate essential bioscience research underpinning health, said Di Palma, director of Science in Vertebrate & Health Genomics at The Genome Analysis Centre.

> Continue reading for more information

Read more:
Ferret Genome Sequenced, Holds Clues To Respiratory Diseases

Sickle Cell Anemia Gene Therapy

By: Candace Kesselring

See original here:
Sickle Cell Anemia Gene Therapy - Video

PUBLIC RELEASE DATE:

17-Nov-2014

Contact: Nik Papageorgiou n.papageorgiou@epfl.ch 41-216-932-105 Ecole Polytechnique Fdrale de Lausanne @EPFL_en

Chronic myeloid leukemia develops when a gene mutates and causes an enzyme to become hyperactive, causing blood-forming stem cells in the bone marrow to grow rapidly into abnormal cells. The enzyme, Abl-kinase, is a member of the "kinase" family of enzymes, which serve as an "on" or "off" switch for many functions in our cells. In chronic myeloid leukemia, the hyperactive Abl-kinase is targeted with drugs that bind to a specific part of the enzyme and block it, aiming to ultimately kill the fast-growing cancer cell. However, treatments are often limited by the fact that the cancer cells can adapt to resist drugs. EPFL scientists have identified an alternative part of Abl-kinase on which drugs can bind and act with a reduced risk of drug resistance. Their work is published in Nature Communications.

Abl-kinase and leukemia

Abl-kinase can turn "on" molecules that are involved in many cell functions including cell growth. In chronic myeloid leukemia, the chromosome that contains the gene for Abl-kinase swaps a section with another chromosome, causing what is known as the "Philadelphia chromosome". When this mutation takes place in the blood stem cells in the bone marrow, Abl-kinase fuses with another protein, turning into a deregulated, hyperactive enzyme. This causes large numbers of blood-forming stem cells to grow into an abnormal type of white blood cell, which gives rise to chronic myeloid leukemia.

To treat this type of leukemia we use drugs that specifically bind and block a part of Abl-kinase called the "active site". As the name suggests, this is the part of the enzyme that binds molecules to turn them on. Therefore, blocking the active site with a drug stops the hyperactivity of Abl-kinase caused by the Philadelphia mutation and slow down or even abolishes the production of abnormal cancerous blood cells. The problem is that targeting the active site of Abl-kinase often causes the cancer cells to adapt and develop drug resistance, making them harder to kill.

An indirect path against resistance

A team of researchers led by Oliver Hantschel at EPFL (ISREC) has now discovered a new way to indirectly inhibit the activity of Abl-kinase. The scientists systematically made small, strategic mutations to Abl-kinase that caused its 3D structure to change. Then they tested each mutant version of the enzyme to see if its function would change.

Hantschel's team built on previous studies showing that Abl-kinase is indirectly controlled by another part of itself called the "SH2 region", which is located close to the active site. Normally, the SH2 region regulates the active site by opening and closing it. But under the Philadelphia mutation, that regulation is lost. What the scientists discovered was that when the Philadelphia mutation takes effect, the SH2 region actually "clamps" open the active site of Abl-kinase and forces it to go into overdrive.

Read the original here:
A new approach to fighting chronic myeloid leukemia

NOTRE DAME - You could be a life saver!

On Friday, November 21, 2014, the Saint Mary's College student club SMC Stands Up To Cancer will hold a bone marrow registration drive on campus.

It'll take place from 11am to 3pm in Reignbeaux Lounge in Le Mans Hall. For a campus map click here.

To participate, you must be between the ages of 18 and 44. It's completely painless to sign up, requiring just a swab of the inside of your cheek to get a sample of cells.

Your genetic information will be added to the Be the Match marrow database, which searches for possible matches for blood cancer patients. Suitable donors can provide bone marrow or peripheral blood stem cells to patients, saving lives.

This will be the second annual bone marrow drive held on Saint Mary's campus. Typically, one person in 540 is a match for a patient with a blood cancer. But a match surfaced out of the 50 registered on campus at the last drive. Allison Lukomski '16, a communicative sciences and disorders major, was a match for a female cancer patient. Lukomski donated peripheral blood stem cells over fall break through a non-surgical procedure.

The bone marrow registration event comes on the heels of the Pink Party Zumbathon, hosted by SMC Stands Up to Cancer, which raised money for cancer research through the national organization Stand Up To Cancer.

Read more from the original source:
Bone marrow registration drive to be held at Saint Mary's College

A large-scale trial conducted in India has shown that stem cell therapy does not work in stroke patientsREUTERS

A study conducted on 120 patients in India has shown that stem cell treatment is not effective in treating paralysis resulting from a stroke.

The research which is thefirst large-scale study conducted in Indiacompared outcomes in those treated with stem cells to others and found no difference, reports Down to Earth.

While 60 patients with some form of disability of limbs caused by a stroke were given conventional treatment, an equal number received bone marrow stem cells in addition. All had experienced a stroke 3-4 weeks before the trial.

"We found that at the end of the first month, patients with stem cells showed more improvement compared to the control group. But at the end of the third month and one year, there was no difference," said Kameshwar Prasad, head, Department of Neurology, All India Institute of Medical Sciences (AIIMS), who led the study.

On an average 280 million bone marrow cells were injected, of which blood forming stem cells were around 2.9 million per patient.

The average age of patients in the study was around 50.

The study, published in the current issue of American journal Stroke, was conducted at AIIMS in New Delhi and four other hospitals covering four cities.

The study comes when many others have been suggesting that stem cells could help treat paralysis in stroke patients. The earlier study was done on a small number of patients as compared to the AIIMs study.

More research needs to be done, before stem cells are used in therapy as in India, many private clinics are openly offering stem cell treatment for various diseases.

Continue reading here:
Stem Cells Treatment Not Useful In Stroke Patients Finds Indian Study

New York, New York (PRWEB) November 17, 2014

Beyond Batten Disease Foundation (BBDF) and the New York Stem Cell Foundation (NYSCF) have been selected as a national innovator by the Milken Institute and will present their breakthrough findings about juvenile Batten disease at the 6th annual Partnering for Cures, November 16-18 in New York City. The presentation will highlight the collaborative efforts of NYSCF, BBDF and Batten Disease Support and Research Association.

Craig and Charlotte Benson established Beyond Batten Disease Foundation in August 2008 after their then five-year-old daughter, Christiane, was diagnosed with juvenile Batten disease. Together with hundreds of families affected by Batten disease, and many more supporters who share their hope and resolve, they are working tirelessly to create a brighter future for Christiane, and all children with Batten disease.

Watch the Benson Family story:

https://beyondbatten.org/family-stories/the-benson-family-story/

Beyond Batten Disease and the New York Stem Cell Foundation hope to ramp up funding and partnerships to develop stem cell resources to investigate and explore new treatments and ultimately find a cure for juvenile Batten disease, a fatal illness-affecting children as they convene at the FasterCures, conference. The Washington, D.C.-based center of the Milken Institute will bring together nearly 1,000 medical research leaders, investors and decision-makers to forge the collaborations needed to speed and improve outcomes-driven R&D. NYSCF scientists have created the first iPS cells from a neurological disease and the first ever stem cell disease model from any disease. This discovery was named Time Magazine #1 breakthrough in 2008 because it was the first time anyone has made stem cells from a person with a disease and used them to produce the type of cell that degenerated in that patient. Again, in 2012 Time Magazine recognized the Beyond Batten Disease Foundations creation of a rate genetic disease test as a top ten medical breakthrough.

We know the genetic mutations associated with juvenile Batten disease. This partnership will result in stem cell models of juvenile Batten, giving researchers an unprecedented look at how the disease develops, speeding research towards a cure, said Susan L. Solomon, NYSCF Chief Executive Officer.

Working with NYSCF to generate functional neuronal subtypes from patients and families is a stellar example of one of our key strategies in the fight against juvenile Batten disease: creating resource technology with the potential to transform juvenile Batten disease research and accelerate our timeline to a cure, said Danielle M. Kerkovich, PhD, BBDF Principal Scientist.

Juvenile Batten disease begins in early childhood between the ages of five and ten. Initial symptoms typically begin with progressive vision loss, followed by personality changes, behavioral problems, and slowed learning. These symptoms are followed by a progressive loss of motor functions, eventually resulting in wheelchair use and premature death. Seizures and psychiatric symptoms can develop at any point in the disease.

Juvenile Batten disease is one disorder in a group of rare, fatal, inherited disorders known as Batten disease. Over 40 different errors (mutations) in the CLN3 segment of DNA (gene) have been attributed to juvenile Batten disease. The pathological hallmark of juvenile Batten is a buildup of lipopigment in the bodys tissues. It is not known why lipopigment accumulates or why brain and eventually, heart cells are selectively damaged. It is, however, clear that we need disease-specific tools that reflect human disease in order to figure this out and to build therapy.

See the article here:
Beyond Batten Disease Foundation and the New York Stem Cell Foundation Chosen as a National Innovator by the Milken ...

Stem Cell Therapy for Labrador Retriever with Ruptured Tendon
Marc Smith DVM of Natchez Trace Veterinary Services and Pet-Tao Pet Foods explains how he utilizes VetraGenics Stem Cell Therapy to regenerate tissue and heal the tendon.

By: Marc Smith

Visit link:
Stem Cell Therapy for Labrador Retriever with Ruptured Tendon - Video

Contact Information

Available for logged-in reporters only

Newswise DALLAS November 17, 2014 Using next generation gene sequencing techniques, cancer researchers at UT Southwestern Medical Center have identified more than 3,000 new mutations involved in certain kidney cancers, findings that help explain the diversity of cancer behaviors.

These studies, which were performed in collaboration with Genentech Inc., identify novel therapeutic targets and suggest that predisposition to kidney cancer across species may be explained, at least in part, by the location of tumor suppressor genes with respect to one another in the genome, said Dr. James Brugarolas, Associate Professor of Internal Medicine and Developmental Biology, who leads UT Southwesterns Kidney Cancer Program at the Harold C. Simmons Cancer Center.

The scientists findings are outlined in separate reports in the Proceedings of the National Academy of Sciences and Nature Genetics.

More than 250,000 individuals worldwide are diagnosed with kidney cancer every year, with lifetime risk of kidney cancer in the US estimated at 1.6 percent. Most kidney tumors are renal cell carcinomas, which when metastatic remain largely incurable.

Researchers with UT Southwesterns Kidney Cancer Program had previously identified a critical gene called BAP1 that is intimately tied to kidney cancer formation. Their latest research shows how BAP1 interacts with a second gene, VHL, to transform a normal kidney cell into a cancer cell, which in part appears to be based on the two genes close proximity in humans, said Dr. Brugarolas, a Virginia Murchison Linthicum Endowed Scholar in Medical Research.

The newest findings suggest that the transformation begins with a mutation in one of the two copies of VHL, which is the most frequently mutated gene in the most common form of kidney cancer, clear cell type, which accounts for about 75 percent of kidney cancers. The VHL mutation is followed by a loss of the corresponding chromosome arm containing the second copy of VHL, as well as several other genes including PBRM1 and BAP1. This step eliminates the remaining copy of VHL and along with it, one of the two copies of PBRM1 and BAP1, two important genes that protect the kidney from cancer development. The subsequent mutation of the remaining copy of BAP1 leads to aggressive tumors, whereas mutation of the remaining copy of PBRM1 induces less aggressive tumors, said Dr. Payal Kapur, a key investigator of both studies who is an Associate Professor of Pathology and Urology, and the Pathology co-Leader of the Kidney Cancer Program.

This model also explains why humans born with a mutation in VHL have a high likelihood of developing kidney cancer during their life time. In these individuals, all kidney cells are already deficient for one VHL copy and a single deletion eliminates the second copy, along with a copy of BAP1 and PBRM1. In contrast, in other animals, these three genes are located on different chromosomes and thus more mutational events are required for their inactivation than in humans. Consistent with this notion, when UT Southwestern researchers mutated VHL and BAP1 together, kidney cancer resulted in animals.

In a second collaborative study with Genentech Inc., published in Nature Genetics, investigators implicated several genes for the first time in non-clear cell kidney cancer, a less common type that accounts for about 25 percent of kidney cancers. Researchers identified a gene signature that can help differentiate subtypes of non-clear cell tumors to better define their behavior. Specifically, the researchers characterized alterations from 167 human primary non-clear cell renal cell carcinomas, identifying 16 significantly mutated genes in non-clear cell kidney cancer that may pave the way for the development of novel therapies. The research team also identified a five-gene set that enabled molecular classifications of tumor subtypes, along with a potential therapeutic role for BIRC7 inhibitors for future study.

Read the original here:
Researchers Identify Gene Mutations and Process for How Kidney Tumors Develop

PUBLIC RELEASE DATE:

17-Nov-2014

Contact: Ron Gilmore rlgilmore1@mdanderson.org 713-745-1898 University of Texas M. D. Anderson Cancer Center @mdandersonnews

Scientists have found that altering members of the p53 gene family, known as tumor suppressor genes, causes rapid regression of tumors that are deficient in or totally missing p53. Study results suggest existing diabetes drugs, which impact the same gene-protein pathway, might be effective for cancer treatment.

The University of Texas MD Anderson Cancer Center investigation showed that, in vivo, the genes p63 and p73 can be manipulated to upregulate or increase levels of IAPP, a protein important for the body's ability to metabolize glucose. IAPP is found in some diabetes drugs already on the market.

The research findings were published in today's issue of Nature.

The study, led by Elsa R. Flores, Ph.D., associate professor of molecular and cellular oncology, centered on p63 and p73 because of the genes' ability to cause tumor regression or spur its growth due to their unique genetic makeup.

"P53 is altered in most human cancers and p53 reactivation suppresses tumors in vivo in mice. This strategy has proven difficult to implement therapeutically. We examined an alternative approach by manipulating the p53 family members, p63 and p73," said Flores.

Flores described two "warring" versions of p63 and p73 that are at odds when it comes to tumor suppression. One version, known as transactivation domain-bearing, is structurally and functionally similar to p53 in their ability to suppress tumors. The other version, which lacks this transactivation domain, actually prevents p53 from stopping tumor growth. Transactivation domains are specific regions within a protein known as a transcription factor that effect further downstream cellular responses.

"The p53 family interacts extensively in cellular processes that promote tumor suppression," said Flores. "Thus, a clear understanding of this interplay in cancer is needed to treat tumors with p53 alterations."

Continued here:
Metabolic 'reprogramming' by the p53 gene family leads to tumor regression

Contact Information

Available for logged-in reporters only

Note: This poster presentation, #310.07.J7, at the American Society for Neuroscience meeting, is titled Calorie restriction suppresses age-dependent gene expression and induces neuroprotective transcriptional signatures in the hippocampal CA1 region and will be on display from 8 a.m. to 12 noon EST, Monday, Nov. 17, in Exhibit Halls A-C at the Washington Convention Center in Washington, D.C.

Newswise The adage 'you are what you eat' has been around for years. Now, important new research provides another reason to be careful with your calories.

Neuroscientists at NYU Langone Medical Center have shown that calorie-reduced diets stop the normal rise and fall in activity levels of close to 900 different genes linked to aging and memory formation in the brain.

In a presentation prepared for the Society for Neuroscience annual meeting in Washington, D.C., on Nov. 17, researchers say their experimental results, conducted in female mice, suggest how diets with fewer calories derived from carbohydrates likely deter some aspects of aging and chronic diseases in mammals, including humans.

Our study shows how calorie restriction practically arrests gene expression levels involved in the aging phenotype how some genes determine the behavior of mice, people, and other mammals as they get old, says senior study investigator and NYU Langone neuroscientist, Stephen D. Ginsberg, PhD. Ginsberg cautions that the study does not mean calorie restriction is the fountain of youth, but that it does add evidence for the role of diet in delaying the effects of aging and age-related disease.

While restrictive dietary regimens have been well-known for decades to prolong the lives of rodents and other mammals, their effects in humans have not been well understood. Benefits of these diets have been touted to include reduced risk of human heart disease, hypertension, and stroke, Ginsberg notes, but the widespread genetic impact on the memory and learning regions of aging brains has not before been shown. Previous studies, he notes, have only assessed the dietary impact on one or two genes at a time, but his analysis encompassed more than 10,000 genes.

Ginsberg, an associate professor at NYU Langone and its affiliated Nathan S. Kline Institute for Psychiatric Research, says the research widens the door to further study into calorie restriction and anti-aging genetics.

For the study, female mice, which like people are more prone to dementia than males, were fed food pellets that had 30 percent fewer calories than those fed to other mice. Tissue analyses of the hippocampal region, an area of the brain affected earliest in Alzheimers disease, were performed on mice in middle and late adulthood to assess any difference in gene expression over time.

Here is the original post:
Calorie-Restricting Diets Slow Aging, Study Finds

PUBLIC RELEASE DATE:

17-Nov-2014

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

New Rochelle, NY, November 17, 2014--In the future, as space exploration takes astronauts on longer missions and more female astronauts participate, "The Impact of Sex and Gender on Adaptation to Space" will become increasingly critical to astronaut safety and mission success, as explored in a special collection of articles published in Journal of Women's Health, a peer-reviewed publication from Mary Ann Liebert, Inc., publishers. The articles are available Open Access on the Journal of Women's Health website at http://online.liebertpub.com/toc/jwh/23/11.

In the Executive Summary, Drs. Saralyn Mark, Graham Scott, Dorit Donoviel, Lauren Leveton, John Charles, and Bette Siegel and Ms. Erin Mahoney from National Aeronautics and Space Administration (NASA), National Space Biomedical Research Institute (NSBRI), and Valador, Inc. provide an overview of six individual articles in the November issue of the Journal derived from the findings of workgroups formed to report on the current research related to sex- and gender-based differences in how humans adapt to spaceflight. Each workgroup and article focuses on a specific type of adaptation: cardiovascular, immunological, sensorimotor, musculoskeletal, reproductive, and behavioral.

In her Commentary, Dr. Mark remarks that in addition to ongoing missions for the purpose of space exploration and research, "NASA has promoted the development of the commercial space sector for the transport of payloads and eventually humans." The impact of sex and gender should influence "the development of equipment, machine-human interfaces, and countermeasures including the use of personalized medicine and genomics or -'astro-omics.'"

"Understanding sex and gender differences in physiological and psychological adaptation to space is increasingly important as the number of female astronauts increases," says Susan G. Kornstein, MD, Editor-in-Chief of Journal of Women's Health, Executive Director of the Virginia Commonwealth University Institute for Women's Health, Richmond, VA, and President of the Academy of Women's Health.

###

About the Journal

Journal of Women's Health, published monthly, is a core multidisciplinary journal dedicated to the diseases and conditions that hold greater risk for or are more prevalent among women, as well as diseases that present differently in women. The Journal covers the latest advances and clinical applications of new diagnostic procedures and therapeutic protocols for the prevention and management of women's healthcare issues. Complete tables of content and a sample issue may be viewed on the Journal of Women's Health website at http://www.liebertpub.com/jwh. Journal of Women's Health is the official journal of the Academy of Women's Health and the Society for Women's Health Research.

Read more from the original source:
New NASA and NSBRI report on sex and gender differences in adaptation to space flight

Neil Young is swearing off Starbucks lattes.

NEW YORK (CNNMoney)

Last week, the singer said on his website, that he was kicking his daily Starbucks latte habit because he claimed the coffee company had teamed up with Monsanto to sue Vermont for a new law on genetically engineered foods. Young called out to his fans to join a petition by the organization SumOfUs.

Now both companies are denying that they are part of the lawsuit.

Starbucks (SBUX) flatly denied, via Twitter, that the company has anything to do with the lawsuit. Vermont's new labeling law requires that companies identify whether its food products contain genetically modified organisms.

"Starbucks is not a part of any lawsuit pertaining to GMO labeling nor have we provided funding for any campaign," said Starbucks. "And Starbucks is not aligned with Monsanto to stop food labeling or block Vermont State law. The petition claiming that Starbucks is part of this litigation is completely false and we have asked the petitioners to correct their description of our position."

Related: Starbucks CEO tells Congress 'stop the polarization'

Monsanto (MON) spokeswoman Charla Marie Lord also said, "We are not in the lawsuit at all."

Both companies aren't named in the lawsuit, but they are both members of the Grocery Manufacturers Association, a lobbying group that filed the suit.

The group's spokesman Brian Kennedy confirmed that Starbucks is an "affiliate member" without any involvement in the group's lawsuit.

See the original post here:
Starbucks: Neil Young is wrong about boycott

Neil Young is swearing off Starbucks lattes.

NEW YORK (CNNMoney)

Last week, the singer said on his website, that he was kicking his daily Starbucks latte habit because he claimed the coffee company had teamed up with Monsanto to sue Vermont for a new law on genetically engineered foods. Young called out to his fans to join a petition by the organization SumOfUs.

Now both companies are denying that they are part of the lawsuit.

Starbucks (SBUX) flatly denied, via Twitter, that the company has anything to do with the lawsuit. Vermont's new labeling law requires that companies identify whether its food products contain genetically modified organisms.

"Starbucks is not a part of any lawsuit pertaining to GMO labeling nor have we provided funding for any campaign," said Starbucks. "And Starbucks is not aligned with Monsanto to stop food labeling or block Vermont State law. The petition claiming that Starbucks is part of this litigation is completely false and we have asked the petitioners to correct their description of our position."

Related: Starbucks CEO tells Congress 'stop the polarization'

Monsanto (MON) spokeswoman Charla Marie Lord also said, "We are not in the lawsuit at all."

Both companies aren't named in the lawsuit, but they are both members of the Grocery Manufacturers Association, a lobbying group that filed the suit.

The group's spokesman Brian Kennedy confirmed that Starbucks is an "affiliate member" without any involvement in the group's lawsuit.

Here is the original post:
Starbucks: Neil Young is wrong on boycott

PUBLIC RELEASE DATE:

17-Nov-2014

Contact: Megan Fellman fellman@northwestern.edu 847-491-3115 Northwestern University @northwesternu

Metastasis is bad news for cancer patients. Northwestern University scientists now have demonstrated a simple but powerful tool that can detect live cancer cells in the bloodstream, potentially long before the cells could settle somewhere in the body and form a dangerous tumor.

The NanoFlare technology is the first genetic-based approach that is able to detect live circulating tumor cells out of the complex matrix that is human blood -- no easy feat. In a breast cancer study, the NanoFlares easily entered cells and lit up the cell if a biomarker target was present, even if only a trace amount. The NanoFlares are tiny spherical nucleic acids with gold nanoparticle cores outfitted with single-stranded DNA "flares."

"This technology has the potential to profoundly change the way breast cancer in particular and cancers in general are both studied and treated," said Chad A. Mirkin, a nanomedicine expert and a corresponding author of the study.

Mirkin's colleagues C. Shad Thaxton, M.D., and Chonghui Cheng, M.D., both of Northwestern University Feinberg School of Medicine, are also corresponding authors.

The research team, in a paper to be published the week of Nov. 17 by the Proceedings of the National Academy of Sciences (PNAS), reports two key innovations:

"Cancers are very genetically diverse, and it's important to know what cancer subtype a patient has," Mirkin said. "Now you can think about collecting a patient's cells and studying how those cells respond to different therapies. The way a patient responds to treatment depends on the genetic makeup of the cancer."

Mirkin is the George B. Rathmann Professor of Chemistry in the Weinberg College of Arts and Sciences and professor of medicine, chemical and biological engineering, biomedical engineering and materials science and engineering.

Read more here:
First genetic-based tool to detect circulating cancer cells in blood

By LINDSEY TANNER AP Medical Writer

CHICAGO (AP) - A large study of gay brothers adds to evidence that genes influence men's chances of being homosexual, but the results aren't strong enough to prove it.

Some scientists believe several genes might affect sexual orientation. Researchers who led the new study of nearly 800 gay brothers say their results bolster previous evidence pointing to genes on the X chromosome.

They also found evidence of influence from a gene or genes on a different chromosome. But the study doesn't identify which of hundreds of genes located in either place might be involved.

Smaller studies seeking genetic links to homosexuality have had mixed results.

The new evidence "is not proof but it's a pretty good indication" that genes on the two chromosomes have some influence over sexual orientation, said Dr. Alan Sanders, the lead author. He studies behavioral genetics at NorthShore University HealthSystem Research Institute in Evanston, Illinois.

Experts not involved in the study were more skeptical.

Neil Risch, a genetics expert at the University of California, San Francisco, said the data are statistically too weak to demonstrate any genetic link. Risch was involved in a smaller study that found no link between male homosexuality and chromosome X.

Dr. Robert Green, a medical geneticist at Harvard Medical School, called the new study "intriguing but not in any way conclusive."

The work was published Monday by the journal Psychological Medicine. The National Institutes of Health paid for the research.

Read more:
Study suggests genetic link for male homosexuality

Lindsey Tanner, The Associated Press Published Monday, November 17, 2014 9:27AM EST Last Updated Monday, November 17, 2014 10:42AM EST

CHICAGO -- A large study of gay brothers adds to evidence that genes influence men's chances of being homosexual, but the results aren't strong enough to prove it.

Some scientists believe several genes might affect sexual orientation. Researchers who led the new study of nearly 800 gay brothers say their results bolster previous evidence pointing to genes on the X chromosome.

They also found evidence of influence from a gene or genes on a different chromosome. But the study doesn't identify which of hundreds of genes located in either place might be involved.

Smaller studies seeking genetic links to homosexuality have had mixed results.

The new evidence "is not proof but it's a pretty good indication" that genes on the two chromosomes have some influence over sexual orientation, said Dr. Alan Sanders, the lead author. He studies behavioural genetics at NorthShore University HealthSystem Research Institute in Evanston, Illinois.

Experts not involved in the study were more skeptical.

Neil Risch, a genetics expert at the University of California, San Francisco, said the data are statistically too weak to demonstrate any genetic link. Risch was involved in a smaller study that found no link between male homosexuality and chromosome X.

Dr. Robert Green, a medical geneticist at Harvard Medical School, called the new study "intriguing but not in any way conclusive."

The work was published Monday by the journal Psychological Medicine. The National Institutes of Health paid for the research.

See the original post:
Study suggests genetic link for homosexuality; experts skeptical

What Is The Definition Of Transposition, genetics
Visit our website for text version of this Definition and app download. http://www.medicaldictionaryapps.com Subjects: medical terminology, medical dictionary, medical dictionary free download,...

By: Medical Dictionary Online

Link:
What Is The Definition Of Transposition, genetics - Video