What is a genetic disease?

A genetic disease is any disease that is caused by an abnormality in an individual's genome. The abnormality can range from minuscule to major -- from a discrete mutation in a single base in the DNA of a single gene to a gross chromosome abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes. Some genetic disorders are inherited from the parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations occur either randomly or due to some environmental exposure.

There are a number of different types of genetic inheritance, including the following four modes:

Single gene inheritance, also called Mendelian or monogenetic inheritance. This type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single gene. There are more than 6,000 known single-gene disorders, which occur in about 1 out of every 200 births. These disorders are known as monogenetic disorders (disorders of a single age).

Some examples of monogenetic disorders include:

Single-gene disorders are inherited in recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.

Genetic Disease - Symptoms Question: What were the symptoms of a genetic disease in you or a relative?

Genetic Disease - Screening Question: Have you been screened for a genetic disease? Please share your story.

Genetic Disease - Personal Experience Question: Is there a genetic disease in your family? Please share your experience.

Medical Author:

Read the original:
Genetic Disease Causes, Types, and Conditions Information ...

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

12-Dec-2013

Contact: Jim Ritter jritter@lumc.edu 708-216-2445 Loyola University Health System

MAYWOOD, IL. A newly improved internet research tool is helping cancer researchers and physicians make sense out of a deluge of genetic data from nearly 100,000 patients and more than 50,000 mice.

The tool, called the Gene Expression Barcode 3.0, is proving to be a vital resource in the new era of personalized medicine, in which cancer treatments are tailored to the genetic makeup of an individual patient's tumor.

Significant new improvements in the Gene Expression Barcode 3.0 are reported in the January issue of the journal Nucleic Acids Research, published online ahead of print.

Senior author is Michael J. Zilliox of Loyola University Chicago Stritch School of Medicine. Zilliox is co-inventor of the Gene Expression Barcode.

"The tool has two main advantages," Zilliox said. "It's fast and it's free."

The Gene Expression Barcode is available at a website http://barcode.luhs.org/ designed and hosted by Loyola University Chicago Stritch School of Medicine. The website is receiving 1,600 unique visitors per month.

Knowing how a patient's cancer genes are expressed can help a physician devise an individualized treatment. In a tumor cell, for example, certain genes are turned on (expressed) while other genes are turned off (unexpressed). Also, different types of cancer cells have different patterns of gene expression. Genes are expressed through RNA, a nucleic acid that acts as a messenger to carry out instructions from DNA for making proteins.

Continued here:
Helping cancer researchers make sense of the deluge of genetic data

Recommendation and review posted by Bethany Smith

PUBLIC RELEASE DATE:

10-Dec-2013

Contact: Donna Dubuc Donna.M.Dubuc@Dartmouth.edu 603-653-3615 The Geisel School of Medicine at Dartmouth

(Lebanon, NH, 12/9/13)There may be a better way to analyze the genetic causes of cutaneous melanoma (CM) according to a study published in Human Genetics conducted by researchers Yale and Dartmouth. A statistical analysis using the natural and orthogonal interaction (NOIA) model showed increased power over existing approaches for detecting genetic effects and interactions when applied to the genome-wide melanoma dataset.

The gene-gene interactions underlying CM had not been fully explored. The usual functional model uses substitution of alleles for estimating genetic effects but the estimators are confounded. The NOIA model estimates population effects of alleles and the resulting estimators are orthogonal and no longer confounded. In simulation studies, the NOIA model had higher power for finding interactions and main effects than the usual model.

"We confirmed the previously identified significant associated genes HERC2, MC1R, and CDKN2A using a NOIA one-locus statistical model," said Christopher I. Amos, PhD, associate director for Population Sciences, Norris Cotton Cancer Center, Geisel School of Medicine at Dartmouth, a corresponding author of the study. "When compared to the usual one-locus model we found that the HERC2 signal was detected more clearly by the NOIA model" The NOIA model also identified an additional potential interaction between the rs1129038 of HERC2 gene and a region at chromosome 5. The SNPs that interact with HERC2 to increase melanoma risk are located in the IL31RA gene, which is involved in STAT3 signaling and upregulated in activated monocytes.

The first author Feifei Xiao, a postdoctoral associate of Yale University, concluded that the power of the NOIA model was better for detecting genetic effects when interactions are tested. When main and interaction effects between two loci were modeled, the usual functional model was less powerful.

CM is highly aggressive and accounts for the majority of deaths from skin cancer. Prior genome-wide association studies have identified multiple genetic factors for the illness, including MC1R, HERC2, and CDKN2A. This study provides new insights for understanding the influence of gene-gene interactions on melanoma risk.

The NOIA framework was developed for modeling gene-gene interactions in the analysis of quantitative traits, to allow for reduced genetic models, dichotomous traits, and gene-environment interactions. The NOIA statistical model can be used for additive, dominant, and recessive genetic models as well as for a binary environmental exposures. It is an easily implemented approach that improves estimation of genetic effects that include interactions.

###

Visit link:
Scientists identify more powerful approach to analyze melanoma's genetic causes

Recommendation and review posted by Bethany Smith

Dec. 11, 2013 There may be a better way to analyze the genetic causes of cutaneous melanoma (CM) according to a study published in Human Genetics conducted by researchers Yale and Dartmouth. A statistical analysis using the natural and orthogonal interaction (NOIA) model showed increased power over existing approaches for detecting genetic effects and interactions when applied to the genome-wide melanoma dataset.

The gene-gene interactions underlying CM had not been fully explored. The usual functional model uses substitution of alleles for estimating genetic effects but the estimators are confounded. The NOIA model estimates population effects of alleles and the resulting estimators are orthogonal and no longer confounded. In simulation studies, the NOIA model had higher power for finding interactions and main effects than the usual model.

"We confirmed the previously identified significant associated genes HERC2, MC1R, and CDKN2A using a NOIA one-locus statistical model," said Christopher I. Amos, PhD, associate director for Population Sciences, Norris Cotton Cancer Center, Geisel School of Medicine at Dartmouth, a corresponding author of the study. "When compared to the usual one-locus model we found that the HERC2 signal was detected more clearly by the NOIA model" The NOIA model also identified an additional potential interaction between the rs1129038 of HERC2 gene and a region at chromosome 5. The SNPs that interact with HERC2 to increase melanoma risk are located in the IL31RA gene, which is involved in STAT3 signaling and upregulated in activated monocytes.

The first author Feifei Xiao, a postdoctoral associate of Yale University, concluded that the power of the NOIA model was better for detecting genetic effects when interactions are tested. When main and interaction effects between two loci were modeled, the usual functional model was less powerful.

CM is highly aggressive and accounts for the majority of deaths from skin cancer. Prior genome-wide association studies have identified multiple genetic factors for the illness, including MC1R, HERC2, and CDKN2A. This study provides new insights for understanding the influence of gene-gene interactions on melanoma risk.

The NOIA framework was developed for modeling gene-gene interactions in the analysis of quantitative traits, to allow for reduced genetic models, dichotomous traits, and gene-environment interactions. The NOIA statistical model can be used for additive, dominant, and recessive genetic models as well as for a binary environmental exposures. It is an easily implemented approach that improves estimation of genetic effects that include interactions.

Read this article:
More powerful approach to analyze melanoma's genetic causes

Recommendation and review posted by Bethany Smith

Contact Information

Available for logged-in reporters only

Newswise MAYWOOD, IL. A newly improved internet research tool is helping cancer researchers and physicians make sense out of a deluge of genetic data from nearly 100,000 patients and more than 50,000 mice.

The tool, called the Gene Expression Barcode 3.0, is proving to be a vital resource in the new era of personalized medicine, in which cancer treatments are tailored to the genetic makeup of an individual patients tumor.

Significant new improvements in the Gene Expression Barcode 3.0 are reported in the January issue of the journal Nucleic Acids Research, published online ahead of print. Senior author is Michael J. Zilliox of Loyola University Chicago Stritch School of Medicine. Zilliox is co-inventor of the Gene Expression Barcode.

The tool has two main advantages, Zilliox said. Its fast and its free. The Gene Expression Barcode is available at a website http://barcode.luhs.org/ designed and hosted by Loyola University Chicago Stritch School of Medicine. The website is receiving 1,600 unique visitors per month.

Knowing how a patients cancer genes are expressed can help a physician devise an individualized treatment. In a tumor cell, for example, certain genes are turned on (expressed) while other genes are turned off (unexpressed). Also, different types of cancer cells have different patterns of gene expression. Genes are expressed through RNA, a nucleic acid that acts as a messenger to carry out instructions from DNA for making proteins.

Research institutions have made public genetic data from nearly 100,000 patients, most of whom had cancer, and more than 50,000 laboratory mice. In raw form, however, these data are too unwieldy to be of much practical use for most researchers. The Gene Expression Barcode applies advanced statistical techniques to make this mass of data much more user-friendly to researchers.

The barcode algorithm is designed to estimate which genes are expressed and which are unexpressed. Like a supermarket barcode, the Gene Expression Barcode is binary, meaning it consists of ones and zeros -- the expressed genes are ones and the unexpressed genes are zeroes.

Zilliox co-invented the Gene Expression Barcode, along with Rafael Irizarry, PhD. (At the time, Zilliox and Irizarry were at Johns Hopkins University.) Zilliox joined Loyola in 2012, and Irizarry now is at the Dana Farber Cancer Institute. Zilliox and Irizarry first reported the Gene Expression Barcode in 2007. In 2011, they reported an improved 2.0 version. The Barcode already has been cited in more than 120 scientific papers, and the new 3.0 version will make it even easier and faster for researchers to use, Zilliox said.

Read the original here:
Helping Cancer Researchers Make Sense of a Deluge of Genetic Data

Recommendation and review posted by Bethany Smith

Dec. 12, 2013 Scientists have discovered a second code hiding within DNA. This second code contains information that changes how scientists read the instructions contained in DNA and interpret mutations to make sense of health and disease.

A research team led by Dr. John Stamatoyannopoulos, University of Washington associate professor of genome sciences and of medicine, made the discovery. The findings are reported in the Dec. 13 issue of Science. The work is part of the Encyclopedia of DNA Elements Project, also known as ENCODE. The National Human Genome Research Institute funded the multi-year, international effort. ENCODE aims to discover where and how the directions for biological functions are stored in the human genome.

Since the genetic code was deciphered in the 1960s, scientists have assumed that it was used exclusively to write information about proteins. UW scientists were stunned to discover that genomes use the genetic code to write two separate languages. One describes how proteins are made, and the other instructs the cell on how genes are controlled. One language is written on top of the other, which is why the second language remained hidden for so long.

"For over 40 years we have assumed that DNA changes affecting the genetic code solely impact how proteins are made," said Stamatoyannopoulos. "Now we know that this basic assumption about reading the human genome missed half of the picture. These new findings highlight that DNA is an incredibly powerful information storage device, which nature has fully exploited in unexpected ways."

The genetic code uses a 64-letter alphabet called codons. The UW team discovered that some codons, which they called duons, can have two meanings, one related to protein sequence, and one related to gene control. These two meanings seem to have evolved in concert with each other. The gene control instructions appear to help stabilize certain beneficial features of proteins and how they are made.

The discovery of duons has major implications for how scientists and physicians interpret a patient's genome and will open new doors to the diagnosis and treatment of disease.

"The fact that the genetic code can simultaneously write two kinds of information means that many DNA changes that appear to alter protein sequences may actually cause disease by disrupting gene control programs or even both mechanisms simultaneously," said Stamatoyannopoulos.

View original post here:
Scientists discover double meaning in genetic code

Recommendation and review posted by Bethany Smith

Genetics and genomics laboratory - Royal Brompton Hospital
The cardiovascular genetics and genomics laboratory is based in Sydney Wing, Royal Brompton Hospital. The laboratory, led by Professor Stuart Cook, is a join...

By: RBandH

Follow this link:
Genetics and genomics laboratory - Royal Brompton Hospital - Video

Recommendation and review posted by Bethany Smith

Genetics Vocabulary
Genetics Vocabulary.

By: Lauren Snyder

Follow this link:
Genetics Vocabulary - Video

Recommendation and review posted by Bethany Smith

Dec. 10, 2013 Researchers at the UNC School of Medicine and the Medical College of Wisconsin found that a new kind of gene therapy led to a dramatic decline in bleeding events in dogs with naturally occurring hemophilia A, a serious and costly bleeding condition that affects about 50,000 people in the United States and millions more around the world.

Before the gene treatment, the animals experienced about five serious bleeding events a year. After receiving the novel gene therapy, though, they experienced substantially fewer bleeding events over three years, as reported in the journal Nature Communications.

"The promise and the hope for gene therapy is that people with hemophilia would be given a single therapeutic injection and then would express the protein they are missing for an extended period of time, ideally for years or even their entire lifetimes," said Tim Nichols, director of the Francis Owen Blood Research Laboratory at UNC and co-author of the paper. The hope is that after successful gene therapy, people with hemophilia would experience far fewer bleeding events because their blood would clot better.

People with hemophilia A lack the coagulation factor VIII in their blood plasma -- the liquid in which red, white, and platelet cells are suspended.

"Bleeding events in hemophilia are severe, and without prompt factor VIII replacement, the disease can be crippling or fatal," said Nichols, a professor of medicine and pathology. "The random and spontaneous nature of the bleeding is a major challenge for people with hemophilia and their families."

In underdeveloped countries, people with hemophilia and many undiagnosed people typically die from bleeding in their late teens or early 20s. In developed countries, patients usually live fairly normal lives, as long as they receive preventive injections of recombinant protein therapy a few times a week. The disease requires life-long management that is not without health risks. The annual cost of medications alone is about $200,000 a year.

However, about 35 percent of people with hemophilia A develop an antibody response that blocks the factor VIII therapy. They require continuous infusions of various protein factors and they face a higher mortality rate. Also, the cost of treatment can easily rise to $2 million or more a year per patient.

Nichols and David Wilcox from the Medical College of Wisconsin figured out a potential way around the antibody response in dogs with naturally occurring hemophilia A.

Using a plasmapheresis machine and a blood-enrichment technique, the research team isolated specific platelet precursor cells from three dogs that have hemophilia A. The team then engineered those platelet precursor cells to incorporate a gene therapy vector that expresses factor VIII. The researchers put those engineered platelet precursors back into the dogs. As the cells proliferated and produced new platelets, more and more were found to express factor VIII.

Then, nature took over. Platelets naturally discharge their contents at sites of vascular injury and bleeding. In this experiment, the contents included factor VIII.

Read this article:
New gene therapy proves promising as hemophilia treatment

Recommendation and review posted by Bethany Smith

In one of the biggest advances against leukemia and other blood cancers in many years, doctors are reporting unprecedented success by using gene therapy to transform patients' blood cells into soldiers that seek and destroy cancer.

A few patients with one type of leukemia were given this one-time, experimental therapy several years ago and some remain cancer-free today. Now, at least six research groups have treated more than 120 patients with many types of blood and bone marrow cancers, with stunning results.

"It's really exciting," said Dr. Janis Abkowitz, blood diseases chief at the University of Washington in Seattle and president of the American Society of Hematology. "You can take a cell that belongs to a patient and engineer it to be an attack cell."

In one study, all five adults and 19 of 22 children with acute lymphocytic leukemia, or ALL, had a complete remission, meaning no cancer could be found after treatment, although a few have relapsed since then.

These were gravely ill patients out of options. Some had tried multiple bone marrow transplants and up to 10 types of chemotherapy or other treatments.

Cancer was so advanced in 8-year-old Emily Whitehead of Philipsburg, Pa., that doctors said her major organs would fail within days. She was the first child given the gene therapy and shows no sign of cancer today, nearly two years later.

Results on other patients with myeloma, lymphoma and chronic lymphocytic leukemia, or CLL, will be reported at the hematology group's conference that starts Saturday in New Orleans.

Doctors say this has the potential to become the first gene therapy approved in the United States and the first for cancer worldwide. Only one gene therapy is approved in Europe, for a rare metabolic disease.

The treatment involves filtering patients' blood to remove millions of white blood cells called T-cells, altering them in the lab to contain a gene that targets cancer, and returning them to the patient in infusions over three days.

"What we are giving essentially is a living drug" permanently altered cells that multiply in the body into an army to fight the cancer, said Dr. David Porter, a University of Pennsylvania scientist who led one study.

See the rest here:
Doctors say gene therapy helping fight cancer

Recommendation and review posted by Bethany Smith

Heather Smith carries a recessive gene for a rare sex-linked primary immune deficiency disease that kills most boys before they are 1 year old, and she passed it on to her two sons.

Her oldest, Brandon, behaved like a normal, healthy baby until he was about six months old and couldn't fight off his first cold. He had trouble eating, he developed a rash on his face and thrush in his mouth, and his fingernails turned blue.

'Bubble Boy' legislation to create home treatment program

Brandon died within three weeks of being hospitalized in 1993 of severe combined immunodeficiency, or SCID-X1, commonly known as "bubble boy disease." It was so named for David Vetter, a Texas child with SCID-X1, who died in 1984 after living for 12 years in a germ-free plastic bubble.

Courtesy Heather Smith

Brandon Dahley died at the age of seven months from SCID-X1 or "bubble boy" disease.

"I had seen the movie ["The Boy in the Plastic Bubble"] with John Travolta, but I never dreamed I would someday lose my first-born child to this devastating disease," said Smith, founder of SCID-Angels for Life, which successfully pushed for mandatory screening of all newborns for the disease in her home state of Florida.

"[A bone transplant] wasn't even an option presented to us for consideration," she said. "Instead, we were told that we had to say goodbye to our only child and turn off the machines."

After genetic testing, Smith's son Taylor was born in 1995, and because of early detection, he received the first-ever in-utero bone marrow cell transplant, previously only done on sheep. Today, at 18, he is "thriving," according to his mother and leads a normal life. He's now preparing to go to college.

Taylor receives infusions of gamma globulin, a blood product that helps his immune system fight off infection.

Read more here:
'Bubble Boy' Disease, Nearly Always Fatal, Could Have Cure

Recommendation and review posted by Bethany Smith

Originally published December 7, 2013 at 3:18 PM | Page modified December 7, 2013 at 8:18 PM

In one of the biggest advances against leukemia and other blood cancers in many years, doctors are reporting unprecedented success by using gene therapy to transform patients blood cells into soldiers that seek and destroy cancer.

A few patients with one type of leukemia were given this one-time, experimental therapy several years ago, and some remain cancer-free. At least six research groups have treated more than 120 patients with many types of blood and bone-marrow cancers, with stunning results.

Its really exciting, said Dr. Janis Abkowitz, blood-diseases chief at the University of Washington in Seattle and president of the American Society of Hematology. You can take a cell that belongs to a patient and engineer it to be an attack cell.

In one study, all five adults and 19 of 22 children with acute lymphocytic leukemia, or ALL, had complete remission, meaning no cancer could be found after treatment, although a few have relapsed since then.

These were gravely ill patients out of options. Some had tried multiple bone-marrow transplants and as many as 10 types of chemotherapy or other treatments.

Cancer was so advanced in Emily Whitehead, 8, of Philipsburg, Pa., that doctors said her major organs would fail within days. She was the first child given the gene therapy and shows no sign of cancer nearly two years later.

Results on other patients with myeloma, lymphoma and chronic lymphocytic leukemia, or CLL, will be reported at the hematology groups conference that started Saturday in New Orleans.

Doctors say this has the potential to become the first gene therapy approved in the United States and the first for cancer worldwide. Only one gene therapy is approved in Europe, for a rare metabolic disease.

The treatment involves filtering patients blood to remove millions of white blood cells called T-cells, altering them in the lab to contain a gene that targets cancer, and returning them to the patient in infusions over three days.

See the rest here:
Gene therapy makes advances in blood-cancer treatment

Recommendation and review posted by Bethany Smith

How Progress in Human Genome Research Will Impact Personalized Medicine
Personalized medicine has the potential to transform cancer care through earlier diagnosis, more effective prevention and treatment of all types of cancer, a...

By: NYU Langone Medical Center

See the original post here:
How Progress in Human Genome Research Will Impact Personalized Medicine - Video

Recommendation and review posted by sam

Paul Craig speaking about her experience of Spinal Cord Injury at Aspire dinner
Paula Craig, speaker at Aspire Sports Quiz Dinner Manchester 2013.

By: Aspire Charity

Read the original here:
Paul Craig speaking about her experience of Spinal Cord Injury at Aspire dinner - Video

Recommendation and review posted by sam

Regenerative medicine and Stem cells Partnering Terms and Agreements
Regenerative medicine and Stem cells Partnering Terms and Agreements Report @ http://www.reportsnreports.com/reports/219403-regenerative-medicine-and-stem-ce...

By: Paul Nelson

Read more from the original source:
Regenerative medicine and Stem cells Partnering Terms and Agreements - Video

Recommendation and review posted by sam

Worcester, MA (PRWEB) December 10, 2013

Tanja Dominko, DVM, PhD, associate professor of biology and biotechnology at Worcester Polytechnic Institute (WPI), is the 2013 Slovenian Ambassador of Science, a national award given to one Slovenian native each year in recognition of outstanding achievements and global scientific impact. The award also honors Dominko's international engagement in developing programs that bring together WPI students and faculty members with Slovenian colleagues to address important biomedical challenges.

Slovenian President Borut Pahor presided at the awards ceremony on Nov. 22, 2013, in the city of Maribor, where Dominko joined nine other scientists and engineers who received national awards for a range of accomplishments. At the event, President Pahor spoke of the vital need to support scientific research and education on a global basis to help improve the human conditiona message that Dominko says resonates deeply with her personal and professional goals to discover and translate new knowledge of human physiology to help cure disease.

"When I learned that I was selected, it was a special moment," she said. "Knowing that after working in the United States for 23 years, that the people of my homeland recognized the value of what we have been doing here gave me a sweet feeling inside. What is most important, though, is the work we are continuing to do, both here at WPI and at the University of Nova Gorica in Slovenia, to help make regenerative cell therapies a reality for all people, regardless of where they live or their ability to pay for treatment."

In a written statement congratulating Dominko for her award, Dr. Boo Cerar, Slovenian Ambassador to the United States, said, "I wish to express my sincere compliments for your outstanding work in the area of stem cell research, regenerative medicine, and tissue engineering, moreover for your valuable role in promoting education and awareness about the fields, both in Slovenia and in the United States."

Dominko is globally recognized for her research in stem cell biology and regenerative medicine. Her work has spanned embryonic transfer, cloning through somatic cell nuclear transfer, and the basic science of early embryogenesis. She is currently at the forefront of the science of cellular reprograming, exploring how mature human skin cells can be coaxed to become more like stem cells able to recapitulate damaged tissues throughout the body.

"This is wonderful recognition for an important body of work and for Tanjas ongoing commitment to advance science and education," said Karen Kashmanian Oates, Peterson Family Dean of Arts and Sciences at WPI. "Through her efforts, Tanja not only honors her homeland, but brings honor to WPI and the faculty and students who work with her. Tanjas engagement of science across borders has created informal, yet essential, networks of science diplomacy. We look forward to the exciting work that will come from these collaborations."

After earning an MS in large animal reproduction and obstetrics and a doctor of veterinary medicine degree from the University of Ljubljana in Slovenia, Dominko came to the United States in 1990 to enroll in a graduate program at the University of Wisconsin-Madison. There she earned a PhD in endocrinology and reproductive physiology, working in the lab next door to Professor Jamie Thomson, who made history by isolating the first embryonic stem cells, initially from primates and then from humans.

"I have always been interested in reproductive physiology, and when I was at Madison two important things happened that shaped my career," Dominko says. "First, there were the discoveries by Jamie Thomson. Then, two of my friends, Ian Wilmut and the late Keith Campbell in the UK, successfully cloned the sheep Dolly. So I guess it was a case of being in the right place at the right time, to be connected with these people, and then to be able to move my work into the area of stem cell biology, cloning, and ultimately regenerative cellular therapies."

After a postdoctoral fellowship at Madison, and another in the lab of Gerald Schatten, PhD, at the Oregon Health Sciences University in Portland, Dominko was recruited to Worcester for a senior research position at Advanced Cell Technology Inc. She came to WPI in 2006 as an assistant research professor and CEO of a start-up company she founded called CellThera, which moved into WPIs Bioengineering Institute. In 2008 Dominko was appointed associate professor of biology and biotechnology at WPI; she received tenure in 2012.

Continued here:
Worcester Polytechnic Institute’s Tanja Dominko Named Slovenian Ambassador of Science for 2013

Recommendation and review posted by simmons

Contact Information

Available for logged-in reporters only

Newswise Stem cell researchers from UCLAs Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research have published the first study to identify the origin cells and track the early development of human articular cartilage, providing what could be a new cell source and biological roadmap for therapies to repair cartilage defects and osteoarthritis. These revolutionary therapies could reach clinical trials within three years.

Led by Dr. Denis Evseenko, assistant professor of orthopedic surgery and head of UCLAs Laboratory of Connective Tissue Regeneration, the study was published online ahead of print in Stem Cell Reports on December 12, 2013.

Articular cartilage is a highly specialized tissue formed from cells called chondrocytes that protect the bones of joints from forces associated with load bearing and impact, and allows nearly frictionless motion between the articular surfaces. Cartilage injury and lack of cartilage regeneration often lead to osteoarthritis involving degradation of joints, including cartilage and bone. Osteoarthritis currently affects more than 20 million people in the United States alone, making joint surface restoration a major priority in modern medicine.

Different cell types have been studied with respect to their ability to generate articular cartilage. However, none of the current cell-based repair strategies including expanded articular chondrocytes or mesenchymal stromal cells from adult bone marrow, adipose tissue, sinovium or amniotic fluid have generated long-lasting articular cartilage tissue in the laboratory.

By bridging developmental biology and tissue engineering, Evseenkos discoveries represent a critical missing link providing scientists with checkpoints to tell if the cartilage cells (called chondrocytes) are developing correctly.

We began with three questions about cartilage development, Evseenko said, we wanted to know the key molecular mechanisms, the key cell populations, and the developmental stages in humans. We carefully studied how the chondrocytes developed, watching not only their genes, but other biological markers that will allow us to apply the system for the improvement of current stem cell-based therapeutic approaches.

This research was also the first attempt to generate all the key landmarks that allow generation of clinically relevant cell types for cartilage regeneration with the highest animal-free standards. This means that the process did not rely on any animal components, thus therapeutic products such as stem-cell serums can be produced that are safe for humans.

Evseenko added that in a living organism more than one cell type is responsible for the complete regeneration of tissue, so in addition to the studies involving generation of articular cartilage from human stem cells, he and his team are now trying different protocols using different combinations of adult progenitor cells present in the joint to regenerate cartilage until the best one is found for therapeutic use.

The rest is here:
UCLA Scientists First to Track Joint Cartilage Development in Humans

Recommendation and review posted by simmons

AAP New research suggests a little bit of sunshine can help ease symptoms of multiple sclerosis.

Vitamin D may combat multiple sclerosis (MS) by blocking the migration of destructive immune cells to the brain, new research suggests.

The findings may help explain anecdotal reports of the "sunshine vitamin" preventing or easing symptoms, say scientists.

MS is known to be more prevalent in parts of the world furthest from the equator, where there is less sunshine to trigger production of vitamin D in the skin.

The disease is caused by the body's own immune defences damaging myelin, a fatty insulating sheath that surrounds nerve fibres and is vital to the proper transmission of nerve signals.

Destruction of myelin leads to symptoms ranging from numbness to blurred vision and paralysis.

"With this research, we learnt vitamin D might be working not by altering the function of damaging immune cells but by preventing their journey into the brain," said lead scientist Dr Anne Gocke, from Johns Hopkins University School of Medicine in the US.

"If we are right, and we can exploit Mother Nature's natural protective mechanism, an approach like this could be as effective as, and safer than, existing drugs that treat MS."

In a person with MS, immune system cells called T-cells are primed to travel out from the lymph nodes and seek and destroy myelin in the central nervous system.

Dr Gocke's team of researchers simultaneously gave mice the rodent form of MS and a high dose of vitamin D. They found that disease symptoms were suppressed in the animals.

Follow this link:
Vitamin D may help fight MS: study

Recommendation and review posted by simmons

Personalized Medicine Diagnostics (Tumor Markers, Molecular Blood Typing and Other Testing) Market
http://www.renub.com/report/personalized-medicine-diagnostics-flow-cytometry-sepsis-immunos-routine-coagulation-psychiatric-disorders-tumor-markers-molecular...

By: Renub Res

Read this article:
Personalized Medicine Diagnostics (Tumor Markers, Molecular Blood Typing and Other Testing) Market - Video

Recommendation and review posted by sam

Chiropractic Care Improves Spinal Cord Injury Rehabilitation
http://fosterchiropractic.com/ Dr. Laura Foster For back pain, neck pain, pregnancy and nutrition at Foster Chiropractic, your family chiropractor located at...

By: About Real Health

The rest is here:
Chiropractic Care Improves Spinal Cord Injury Rehabilitation - Video

Recommendation and review posted by sam

Embracing Regenerative Medicine within the #FutureOfHealthCare
From the 2013 World Stem Cell Summit, Dr. Andre Terzic, director of the Mayo Clinic Center for Regenerative Medicine talks about how Mayo Clinic has embraced...

By: Mayo Clinic

See the article here:
Embracing Regenerative Medicine within the #FutureOfHealthCare - Video

Recommendation and review posted by sam

The Science of Regenerative Medicine
How far are we away from growing whole organs in the lab? In this video, HealthMaker Anthony Atala, MD, director of the Wake Forest Institute for Regenerativ...

By: eray oral

More here:
The Science of Regenerative Medicine - Video

Recommendation and review posted by sam

Stemology Skincare, the world's first and only skincare line to use plant and human adult stem cell technology, launches. http://www.stemologyskincare.com. (PRNewsFoto/DermaTech Research Laboratories)

LOS ANGELES, Dec. 11, 2013 /PRNewswire/ --DermaTech Research Laboratories announced the launch of Stemology, the world's first and only skincare line to incorporate the superior features of both humanadultstem cellsand plant stem cells, along with a stem cell communicator that greatly enhances the benefit of stem cell "signaling" growth factors. This "best of" approach maximizes Stemology's ability to help prevent and improve the number one cause of skin aging - the declining production of epidermal collagen and elastin cells, resulting in dull, thin and wrinkled skin.

(Photo: http://photos.prnewswire.com/prnh/20131211/LA31290)

Featuring the proprietary formulation complex StemCore-3, Stemology promises superior anti-aging efficacy and has been clinically proven to significantly improve all 12 signs of facial aging including fine lines and wrinkles, skin elasticity, firmness, brightness, skin tone, pore refinement, skin thickness, collagen and free radical damage.

"With over 10 years in the biotechnology field, the creation of StemCore-3 and the Stemology brand is my greatest achievement," says Hal Simeroth, Ph.D., Co-Founder of DermaTech, and lead formulator for Stemology. "There is no other anti-aging adult stem cell product on the market with these strict ethical standards that is clinically proven with statistical significance to rejuvenate and restore skin like Stemology."

Stemology is committed to the ethical collection and use of stem cells, and only uses adult human stem cell technology gathered from certified, volunteer human bone marrow donors. Stemology never uses human or animal embryonic stem cells, and no human or animal is harmed during stem cell harvesting. Stemology products are all natural, and intelligently organic wherever possible and free of phthalates, parabens, GMO's and petrochemicals.

The Stemology line contains:

Stemology is available at salon and spa locations, medical offices and online at stemologyskincare.com.

Contact: Jessica Wohlwend 310.383.8364

SOURCE DermaTech Research Laboratories

See the article here:
First And Only Skincare To Use Plant And Human Adult Stem Cell ...

Recommendation and review posted by Bethany Smith

November 22, 2013

Brett Smith for redOrbit.com Your Universe Online

Scientists from the University of Granada in Spain have announced the development of artificial skin, grown from umbilical cord stem cells. The development could be a massive step forward for the treatment of burn victims or other patients who have suffered severe skin damage.

According to a report, published in the journal Stem Cells Translational Medicine, the research team wrote that they were able to use stem cells derived from the umbilical cord, also known as Wharton stem cells, to generate oral-mucosa or epithelia, two types of tissues needed to treat skin injuries.

The researchers said their novel technique is an improvement on conventional methods that can take weeks to generate artificial skin. To grow the artificial tissue, the study team used a biomaterial made of fibrin and agarose that they had previously designed and developed.

Creating this new type of skin using stem cells, which can be stored in tissue banks, means that it can be used instantly when injuries are caused, and which would bring the application of artificial skin forward many weeks, said study author Antonio Campos, professor of Histology at the University of Granada.

The development builds on previous work by the same team, which was heralded at the World Congress on Tissue Engineering held a few months ago in Seoul, South Korea. The celebrated work pointed to the potential for Wharton stem cells to be turned into epithelia cells.

Last month, a team of Italian scientists announced they had developed a similar method but in reverse. According to their paper in the journal Nature Communications, the team took skin cells from a mouse and reverse programmed them back into stem cells. These stem cells were then used to reduce damages to the nervous system of lab mice.

Our discovery opens new therapeutic possibilities for multiple sclerosis patients because it might target the damage to myelin and nerves itself, said study author Gianvito Martino, from the San Raffaele Scientific Institute in Milan, Italy.

This is an important step for stem cell therapeutics, said Dr. Timothy Coetzee, a lead researcher at the National MS Society who was not directly involved in the research. The hope is that skin or other cells from individuals with MS could one day be used as a source for reparative stem cells, which could then be transplanted back into the patient without the complications of graft rejection.

See the original post:
Artificial Skin Grown In Lab Using Stem Cells - Science News ...

Recommendation and review posted by Bethany Smith

Gene therapy breakthrough in cancer treatment
An experimental gene therapy is showing high rates of success with cancer patients who have failed to respond to traditional treatments. Jim Axelrod reports.

By: CBS Evening News

Read the original:
Gene therapy breakthrough in cancer treatment - Video

Recommendation and review posted by Bethany Smith