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Archive for May, 2014

Gene Therapy (Using Biolistic gene gun for gene delivery) – Video


Gene Therapy (Using Biolistic gene gun for gene delivery)

By: Kang Weiling

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Gene Therapy (Using Biolistic gene gun for gene delivery) - Video

Gene Therapy Biology Project for Swavely – Video


Gene Therapy Biology Project for Swavely
A project for my biology class.

By: TeddyBearPower7

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Gene Therapy Biology Project for Swavely - Video

Gene therapy for RTT syndrome benefits and drawbacks – Video


Gene therapy for RTT syndrome benefits and drawbacks

By: osama ashmawy

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Gene therapy for RTT syndrome benefits and drawbacks - Video

Slowly progressing from a c4 spinal cord injury – Video


Slowly progressing from a c4 spinal cord injury
Never giving up is most important.

By: Poonie Jones

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Slowly progressing from a c4 spinal cord injury - Video

3 Causes of Spinal Cord Injuries – Video


3 Causes of Spinal Cord Injuries
Injuries that affect the spinal cord are among the most difficult for families to deal with. These injuries affect the nerves that relay messages between the brain and the body, disrupting...

By: Hughes Coleman

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3 Causes of Spinal Cord Injuries - Video

Bone Marrow Stem Cells – Dr. Steenblock- Regenerative Medicine

Bone Marrow Stem Cells

Dr. Steenblock performing a bone marrow stem cell treatment

The latest discovery in the world of natural medical therapies is STEM CELLS!

You have within you a powerful set of tools to repair your body and keep you healthy. The future of medicine is NOT better drugs but better use and application of your bodys own stem cells. As of now stem cell-rich tissue can be extracted from your hip with virtually no discomfort and used to help restore your body. This opens up an exciting new horizon in terms of preventing and treating disease and tackling the symptoms of aging if not aging itself. Already, patients are returning to Dr. Steenblock for additional bone marrow treatments because they are seeing that their gray or white hair is turning back to its original color. Their skin not infrequently looks younger too and they report having more energy and less arthritic aches and pains!

Over the past six years, Dr. Steenblock and his medical team have done over 2,000 bone marrow procedures with much success. Contrary to the conventional painful methods used, he and his colleagues have developed an almost painless approach to extract bone marrow and the hidden trove of stem cells contained within. Using the patients own bone marrow rather than someone elses has totally eliminated the risk of graft versus host disease and the need for toxic chemotherapy to suppress the immune system. Since Dr. Steenblock is merely transferring stem cells from a persons bones into their blood stream there is never an allergic or rejection type of reaction since these are the patients own cells. The results have at times been phenomenal especially for those under 40 and for those who are really physically fit and walk or run a lot every day. The stronger an individuals bones are the better the bone marrow stem cells are. Even children that are paralyzed and who do not put weight on their legs are generally not going to have good results unless add another facet is added to their treatment. For those people who do not walk much, are not physically fit and who are older than 40, Dr. Steenblock generally recommends that they undergo five successive daily injections of a natural bone marrow mobilizer called Neupogen (Filgrastim) beginning 19 days before they come to his office for their bone marrow treatment(s). The ideal treatment for anyone with a complicated health issue is to first have certain tests done to determine if they have any problems that could interfere with the treatments success. These tests include standard blood tests for anemia, hormones, metabolism, infections, autoimmunity, inflammation and special tests for heavy metal poisons and intestinal infections and infestations. If problems are discovered with these tests then the underlying problem should be corrected before beginning the process of using the Neupogen and the scheduling of the bone marrow treatment(s). The word marrows is pleural intentionally because a person in general has a better result if more stem cells are given. By having two bone marrow procedures on successive days an individual will double the number of stem cells they receive. For example, if a 60 year old sedentary person comes in and does only one bone marrow treatment Dr. Steenblock will generally extract about 400 milliliters of stem cell-rich bone marrow (buffy coat after centrifugation) which is put directly back into the blood stream by intravenous means. The number of active, healthy stem cells in this simple procedure may only be 100 million and these in general will not be as healthy or as active as they will be if the patient first has any known or potential impediments to their post-infusion activity eliminated and they are given the 5 daily injections of Neupogen. When a person comes to the clinic 14 days after their last Neupogen injection, that same 400 ml of bone marrow will have somewhere between 500 and 1000 million stem cells and then if they repeat the process the next day they will get another 500-1000 million stem cells. By this combination of eradicating infections, correcting other problems discovered using our testing, and then using Neupogen followed by two bone marrow treatments patients will be receiving well over a billion stem cells.

Benefits of Bone Marrow Stem Cells

What is the secret behind the successes Dr. Steenblock has seen with the bone marrow treatments? While bone marrow transplants have been done for the past 50 years for cancer patients and those with blood disorders, the whole bone marrow procedure done by Dr. Steenblock is different because it is so SIMPLE! He uses a persons own bone marrow and instead of isolating one type of stem cell, he takes and uses the whole raw bone marrow which contains a rich variety of stem and progenitor cells. In fact, bone marrow is rich in two different types of stem cells: One type turns into blood cells, blood vessels, and cells of the immune system and are called hematopoietic stem cells (heme meaning blood-related). The other type of stem cell is the support (stromal or mesenchymal) stem cell that produces bone, fat, tendons, skin, muscles and connective tissue. Recent research shows that these hematopoietic and the support stem cells are also able to divide into all types of brain cells, including glial cells (white matter) and neurons (gray matter). The bone marrow also contains retinal progenitor cells and several patients have actually commented on how their vision improved as a side benefit of their bone marrow procedure. These two type of stem cells work better together in a ratio of one hematopoietic to 4 to 8 support (stromal or mesenchymal) stem cells which is the ratio found normally in most peoples bone marrow.

In regard to its anti-aging effects, the bone marrow contains primitive progenitor cells that are associated with the early development of the fetus. These primitive cells reside dormant deep inside each of our bones and sport a virginal profile from early development in that these stem cells are generally resting and not active. This inactivity protects them from chemicals or stresses that induce mutations such as occurs in those bone marrow stem cells that are located in the more superficial areas of the bone which are constantly making red and white blood cells. When these primitive, more pure cells are released into a persons system, there can be a revitalization of the body that physiologically sets the clock back in-a-way since these stem cells get into all parts of the body and produce more growth factors than would otherwise be possible. It is this increase in growth factors that induces the regenerative processes. For those that can afford it Dr. Steenblock uses growth factors oriented toward improving the organs that are diseased. For example, if a patients chief problem is their lungs then he may suggest some lung growth factors to be taken right along with the Neupogen and then continued for 6 weeks to help push the stem cells into becoming more like lung tissue cells.

Bottom line: Bone marrow stem cells have the potential to repair damaged tissues and organs. Whether a person wants an anti-aging treatment or needs the procedure to repair damage in joints, liver, kidneys, heart or brain, bone marrow transplants is an efficient and sure way to flood their body with stem cells.

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Bone Marrow Stem Cells - Dr. Steenblock- Regenerative Medicine

Could Stem Cells Be Used To Treat Cartilage Damage?

CBS Pittsburgh (con't)

Affordable Care Act Updates: CBSPittsburgh.com/ACA

Health News & Information: CBSPittsburgh.com/Health

PITTSBURGH (KDKA) How about re-growing your own cartilage and tissue with your own stem cells?

More and more doctors are offering this to patients with damaged joints.

Bob Teagarden was used to running up to 40 miles a week, but he was in pain.

I had a tightness in the middle of my foot, he said.

He thought he had a stress fracture. But, he actually needed surgery for worn away cartilage in his ankle.

I was mad. I was mad and frustrated because I thought I was going to run a fast half-marathon, he said. At that point, I thought I was pretty much done running. I thought that was the end of my running career.

His doctor proposed taking stem cells from bone marrow in his hip, and putting them into the hole, or defect, in the cartilage. The idea is to grow new tissue there. One of the biggest challenges is keeping those cells in place so that tissue has a chance to grow.

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Could Stem Cells Be Used To Treat Cartilage Damage?

Stem Cells to The Rescue: Repairing The Hearts

FRESNO, Calif. (KFSN) --

"Grace is what's carried me through this," Minch told Ivanhoe.

Ten years ago, at just 49, the choir singer and her husband were told she would need a quadruple bypass.

"Now we are at the point where my heart is severely damaged and nothing is really helping," Minch said.

Doctors said a heart transplant was her only option, but she'll soon find out if she'll be accepted into a new trial that could use her own stem cells to help repair the once thought irreversible damage, "or even create new blood vessels within areas of the heart that have been damaged," Jon George, MD, Interventional Cardiologist, Temple University School of Medicine, told Ivanhoe.

First, stem cells are taken from a patient's bone marrow. Then using a special catheter and 3D mapping tool, the cells are injected directly into the damaged tissue.

"We have results from animal data that show blood vessels regrow in the patients that actually get stem cell therapy," Dr. George said.

It's a possible answer to Debbie's prayers.

Temple University Hospital is currently pre-screening patients for the trial. For more information, call 215-707-5340.

------

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Stem Cells to The Rescue: Repairing The Hearts

GE Healthcare Launches Xuri IL-2 Growth Factor For The Reliable Activation And Expansion Of T-lymphocytes

Xuri IL-2 is a dedicated cell therapy ancillary product for the ex vivo cultivation of T-lymphocytes. Xuri IL-2s defined level of biological activity removes the need for revalidation of each lot and strongly improves reproducibility, thereby minimizing process development time and improving scale out capacity.

Xuri IL-2 features low endotoxin levels (<0.025 EU/g), is produced under a GMP license certified and regularly audited, quality controlled under ISO9001:2008 and in accordance with the International Conference on Harmonization (ICH) guideline. Xuri IL-2 is supplied with comprehensive instructions for straightforward expansion in static culture and with the Xuri Cell Expansion Systems W5 and W25.

Also now available is IL-2 for preclinical use, a cost efficient alternative for the cultivation of T-lymphocytes in proof-of-principle and basic research experiments. The close equivalence between IL-2 and Xuri IL-2 simplifies the transition from research to process development for cell therapy manufacturing with minimized optimization time while supporting regulatory compliance.

Xuri products are supplied with a comprehensive documentation support package that follows USP <1043> requirements applicable to a supplier of ancillary material for cell, gene and tissue-engineered products to enable a full assessment and documentation of the production processes. This contributes significantly to facilitating risk assessment and validation in cell therapy manufacturing.

For more information, visit https://promo.gelifesciences.com/GL/XURI/expansion.html.

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GE Healthcare Launches Xuri IL-2 Growth Factor For The Reliable Activation And Expansion Of T-lymphocytes

Health Ranger calls for increased science education in America to combat scientific illiteracy – Video


Health Ranger calls for increased science education in America to combat scientific illiteracy
Scientific illiteracy has run rampant across America, with many scientists, doctors and journalists unable to carry on intelligent conversations about toxic heavy metals or the difference between...

By: TheHealthRanger

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Health Ranger calls for increased science education in America to combat scientific illiteracy - Video

Qatar- First date palm genetic map made

(MENAFN - The Peninsula) Researchers at Weill Cornell Medical College in Qatar (WCMC-Q) have published the first genetic map of the date palm, paving the way for Qatar to become a leader in date palm genetics and biotechnology.

The map shows the order in which the date palm's chromosomes are placed and which chromosome is responsible for reproduction.

In theory, the information could one day allow growers to manipulate the development of seeds, creating more female fruit-bearing plants than male plants,which do not produce dates. It also places Qatar at the head of research into the date palm, an important food source for much of the Middle East. The map has been produced by the genomics group under the direction of Dr Joel Malek, Assistant Professor of Genetic Medicine, in collaboration with Dr Karsten Suhre, Professor of Physiology and Biophysics, and with help from colleagues at the Ministry of Environment's Biotechnology Centre and its Department of Agricultural Affairs.

The programme 'Establishing World Leadership in Date Palm Research in Qatar' (NPRP-EP X-014-4-001) was funded by Qatar National Research Fund's NPRP Exceptional Proposal programme that provided 4.5m for the research.

Dr Malek said, "This is us laying the foundation for establishing world leadership in date palm research. To be a world leader, you have to have infrastructure and I consider this a genetic infrastructure that will allow us to be the leaders when it comes date palm biotechnology."

Three years ago, he and his team produced a draft version of the date palm genome which paved the way for the more accurate map. To create the map, Dr Malek and Dr Suhre worked with the centre and the Department of Agricultural Affairs. The ministry provided 150 seeds from a female tree and they were then propagated by Ameena Al Malki at the centre. Once they were large enough, leaves and DNA were taken from the seedlings. A new process 'genotyping-by-sequencing' was applied which sequenced portions of the genomes of all seedlings. It allowed the researchers to look at the parent tree and ascertain how it passed her DNA to her offspring.

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Qatar- First date palm genetic map made

Accident & Personal Injury Testimonial – Martyn Prowel Solicitors – Video


Accident Personal Injury Testimonial - Martyn Prowel Solicitors
http://www.martynprowel.co.uk/ We have several years expertise in representing clients in all kinds of personal injury claims where people have been injured through no fault of their own....

By: Martyn Prowel Solicitors

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Accident & Personal Injury Testimonial - Martyn Prowel Solicitors - Video

Steve Ramsbottom and the SCI BC Peer Program – Video


Steve Ramsbottom and the SCI BC Peer Program
On March 29, 2014 Steve Ramsbottom presented and spoke about the benefits of physical activity for your overall well-being at our annual SCI Forum. This even...

By: Spinal Cord Injury BC

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Steve Ramsbottom and the SCI BC Peer Program - Video

Individualized Medicine: Holly’s Story – Video


Individualized Medicine: Holly #39;s Story
The Center for Regenerative Medicine finds answers for patients like Holly based on new ways to use your genome and provide the best treatment available. Lea...

By: Mayo Clinic

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Individualized Medicine: Holly's Story - Video

Study shows breastfeeding, birth control may reduce ovarian cancer risk in women with BRCA mutations

PUBLIC RELEASE DATE:

14-May-2014

Contact: Katie Delach katie.delach@uphs.upenn.edu 215-349-5964 University of Pennsylvania School of Medicine

PHILADELPHIA Breastfeeding, tubal ligation also known as having one's "tubes tied" and oral contraceptives may lower the risk of ovarian cancer for some women with BRCA gene mutations, according to a comprehensive analysis from a team at the University of Pennsylvania's Basser Research Center for BRCA and the Abramson Cancer Center. The findings, a meta-analysis of 44 existing peer-reviewed studies, are published in the Journal of the National Cancer Institute.

The researchers, from Penn's Perelman School of Medicine, found that breastfeeding and tubal ligation are associated with reduced rates of ovarian cancer in BRCA1 mutation carriers, and the use of oral contraceptives is associated with a reduced risk of ovarian cancer in patients with BRCA1 or BRCA 2 mutations. The analysis also helped better define factors that may increase risk among this population: Smoking, for instance, may raise the risk of breast cancer for patients with a BRCA2 mutation. Though the team cautions that more data are required before definitive conclusions about these variables can be made, the findings help to shed light on non-surgical risk reduction options for women who may not be ready to undergo prophylactic removal of their ovaries to cut their cancer risk.

"Our analysis reveals that heredity is not destiny, and that working with their physicians and counselors, women with BRCA mutations can take proactive steps that may reduce their risk of being diagnosed with ovarian cancer," says lead author Timothy R. Rebbeck, PhD, professor of Epidemiology and Cancer Epidemiology and Risk Reduction Program Leader at Penn Medicine's Abramson Cancer Center. "The results of the analysis show that there is already sufficient information indicating how some variables might affect the risk of cancer for these patients."

BRCA1 and BRCA2 are human genes that produce tumor-suppressing proteins. A woman's risk of developing breast or ovarian cancer is notably increased if she inherits a harmful mutation in either the BRCA1 gene or the BRCA2 gene from either parent. Fifty-five to 65 percent of women who inherit a harmful BRCA1 mutation, and about 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70, compared to approximately 12 percent of women in the general population. Thirty-nine percent of women who inherit a harmful BRCA1 mutation and up to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70, compared to only 1.4 percent of women in the general population. Both BRCA mutations have also been associated with increased risks of several other types of cancer.

Though the study's findings point to a helpful role for birth control pills in cutting ovarian cancer risk, the relationship between oral contraceptives and breast cancer risk was ambiguous. The authors say women and their health care providers should weigh the potential benefits of oral contraceptives (reduction in ovarian cancer risk, avoidance of unintended pregnancy, and regulation of menstrual cycles, for instance) against the potential risks (such as blood clots or the possible increased risk of breast cancer). There was also insufficient evidence to draw conclusions about the relationships between breastfeeding and tubal ligation, respectively, and breast cancer. Future research aims to examine these issues as well as how other variables, such as alcohol consumption, affect the risk of breast and ovarian cancer for BRCA mutation carriers. Since BRCA testing is relatively new, researchers have struggled to conduct large studies to examine these trends due to limited availability of large numbers of prospectively identified BRCA1/2 mutation carriers.

"Patients deserve better cancer-risk reduction options than surgically removing their healthy breasts and ovaries," said Susan Domchek, MD, executive director of the Basser Research Center for BRCA and co-author on the new paper. "It's imperative that we continue examining and building upon past research in this area so that we can provide BRCA mutation carriers with options at every age, and at every stage of their lives."

###

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Study shows breastfeeding, birth control may reduce ovarian cancer risk in women with BRCA mutations

"Heredity is Not Destiny": Breastfeeding, Birth Control Pills May Reduce Ovarian Cancer Risk Among Women with BRCA …

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Newswise PHILADELPHIA Breastfeeding, tubal ligation also known as having ones tubes tied and oral contraceptives may lower the risk of ovarian cancer for some women with BRCA gene mutations, according to a comprehensive analysis from a team at the University of Pennsylvania's Basser Research Center for BRCA and the Abramson Cancer Center. The findings, a meta-analysis of 44 existing peer-reviewed studies, are published in the Journal of the National Cancer Institute.

The researchers, from Penn's Perelman School of Medicine, found that breastfeeding and tubal ligation are associated with reduced rates of ovarian cancer in BRCA1 mutation carriers, and the use of oral contraceptives is associated with a reduced risk of ovarian cancer in patients with BRCA1 or BRCA 2 mutations. The analysis also helped better define factors that may increase risk among this population: Smoking, for instance, may raise the risk of breast cancer for patients with a BRCA2 mutation. Though the team cautions that more data are required before definitive conclusions about these variables can be made, the findings help to shed light on non-surgical risk reduction options for women who may not be ready to undergo prophylactic removal of their ovaries to cut their cancer risk.

Our analysis reveals that heredity is not destiny, and that working with their physicians and counselors, women with BRCA mutations can take proactive steps that may reduce their risk of being diagnosed with ovarian cancer, says lead author Timothy R. Rebbeck, PhD, professor of Epidemiology and Cancer Epidemiology and Risk Reduction Program Leader at Penn Medicine's Abramson Cancer Center. The results of the analysis show that there is already sufficient information indicating how some variables might affect the risk of cancer for these patients."

BRCA1 and BRCA2 are human genes that produce tumor-suppressing proteins. A woman's risk of developing breast or ovarian cancer is notably increased if she inherits a harmful mutation in either the BRCA1 gene or the BRCA2 gene from either parent. Fifty-five to 65 percent of women who inherit a harmful BRCA1 mutation, and about 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70, compared to approximately 12 percent of women in the general population. Thirty-nine percent of women who inherit a harmful BRCA1 mutation and up to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70, compared to only 1.4 percent of women in the general population. Both BRCA mutations have also been associated with increased risks of several other types of cancer.

Though the study's findings point to a helpful role for birth control pills in cutting ovarian cancer risk, the relationship between oral contraceptives and breast cancer risk was ambiguous. The authors say women and their health care providers should weigh the potential benefits of oral contraceptives (reduction in ovarian cancer risk, avoidance of unintended pregnancy, and regulation of menstrual cycles, for instance) against the potential risks (such as blood clots or the possible increased risk of breast cancer). There was also insufficient evidence to draw conclusions about the relationships between breastfeeding and tubal ligation, respectively, and breast cancer. Future research aims to examine these issues as well as how other variables, such as alcohol consumption, affect the risk of breast and ovarian cancer for BRCA mutation carriers. Since BRCA testing is relatively new, researchers have struggled to conduct large studies to examine these trends due to limited availability of large numbers of prospectively identified BRCA1/2 mutation carriers.

Patients deserve better cancer-risk reduction options than surgically removing their healthy breasts and ovaries, said Susan Domchek, MD, executive director of the Basser Research Center for BRCA and co-author on the new paper. Its imperative that we continue examining and building upon past research in this area so that we can provide BRCA mutation carriers with options at every age, and at every stage of their lives.

Penn's Tara M. Friebel, MPH, is also an author of the paper.

Funding for the study was supported by the National Institutes of Health (R01-CA102776 and P50-CA083638) and the Basser Research Center for BRCA, the nation's first and only comprehensive center focused on prevention and treatment of BRCA-related cancers. In 2012, University of Pennsylvania alumni Mindy and Jon Gray gave a $25 million gift to establish the Basser Center in honor of Mindys sister, Faith Basser, who passed away at the age of 44 of ovarian cancer. Recently, the Grays committed an additional $5 million gift to support BRCA-related pancreatic cancer research as well as launch an external grants program to help advance science around the globe focused on BRCA-related research.

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"Heredity is Not Destiny": Breastfeeding, Birth Control Pills May Reduce Ovarian Cancer Risk Among Women with BRCA ...

Genetic Medicine | Department of Pediatrics | University …

Leadership

Michael Bamshad, MD Professor Division Chief

The Division of Genetic Medicine is committed to providing an outstanding level of patient care, education and research. The faculty have diverse interests and are drawn from several disciplines including clinical genetics, molecular genetics, biochemical genetics, human embryology/teratology and neurology.

A large clinical program of medical genetics operates from Seattle Childrens Hospital staffed by faculty from the Division. These clinical activities concentrate on pediatric genetics but also encompass adult and fetal consultations. At Seattle Children's full IP consultations are available and general genetics clinics occur regularly. Consultative services are also provided to the University of Washington Medical Center and Swedish Hospital. In addition, a variety of interdisciplinary clinical services are provided at Childrens including cardiovascular genetics, skeletal dysplasia, neurofibromatosis, craniofacial genetics, gender disorders, neurogenetics and biochemical genetics as well as others. A very large regional genetics service sponsored by state Departments of Health are provided to multiple outreach clinical sites in both Alaska and Washington.

Our research holds the promise for both continued development of improved molecular diagnostic tools and successful treatment of inherited diseases. Research in the Division is highly patient-driven. It often begins with a physician identifying a particular patients problems and subsequently taking that problem into a laboratory setting for further analysis. The Division has a strong research focus with established research programs in medical genetics information systems, neurogenetic disorders, fetal alcohol syndrome, neuromuscular diseases, human teratology, population genetics/evolution and gene therapy.

The Division offers comprehensive training for medical students, residents, and postdoctoral fellows in any of the areas of our clinical and research programs relevant to medical genetics. Medical Genetics Training Website

Margaret L.P. Adam, MD Associate Professor mpa5@u.washington.edu

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Genetic Medicine | Department of Pediatrics | University ...

Large panel genetic testing produces more questions than answers in breast cancer

PUBLIC RELEASE DATE:

14-May-2014

Contact: Steve Graff stephen.graff@uphs.upenn.edu 215-301-5221 University of Pennsylvania School of Medicine

PHILADELPHIAWhile large genetic testing panels promise to uncover clues about patients' DNA, a team of researchers from Penn Medicine's Abramson Cancer Center (ACC)has found that those powerful tests tend to produce more questions than they answer. In a study of 278 women with early onset breast cancer who did not have the BRCA genes, the researchers found that only 2.5 percent of the patients had inherited mutations that were actually clinically actionable. Experts don't yet know how to interpret most of the mutations discovered by the testknown as massively parallel gene sequencing.

Results of the study, led by author Kara Maxwell, MD, PhD, a fellow in the division of Hematology-Oncology in the Perelman School of Medicine at the University of Pennsylvania, will be presented during the annual meeting of the American Society of Clinical Oncology (ASCO) in Chicago in early June (Abstract #1510).

Large genetic testing panels sometimes reveal mutations in genes that are associated with an increased risk in developing cancer. BRCA 1 and BRCA 2 genes are prime examples, where women can opt for mastectomies and ovary removal surgerywhich research shows slashes their risk of developing those cancers). However, there is not yet guidance for clinicians on how to care for patients who exhibit other types of mutations, such as CHEK2 and ATM. These are known as variants of unknown significance (VUS).

"We're in a time where the testing technology has outpaced what we know from a clinical standpoint. There's going to be a lot of unknown variants that we're going to have to deal with as more patients undergo large genetic testing panels," said Maxwell. "It's crucial that we figure out the right way to counsel women on these issues, because it can really provoke a lot of anxiety for a patient when you tell them, 'We found a change in your DNA and we don't know what it means.'"

The team, which includes Susan Domchek, MD, the Basser Professor in Oncology and director of the Basser Research Center for BRCA in Penn's ACC, and Katherine Nathanson, MD, an associate professor in the division of Translational Medicine and Chief Oncogenomics Physician for the ACC, studied 278 patients who had been diagnosed with breast cancer under the age of 40, were not carriers of the BRCA1 or BRCA2 mutations, and had no family history of ovarian cancer.

The researchers performed massively parallel gene sequencing to detect 22 known or proposed breast cancer susceptibility genes in each woman. Though the testing did reveal multiple variants of genes that are known to confer increased risk of breast cancer in patients who develop the disease young, only 2.5 percent of patients tested were found to have mutations that are actionable under current treatment guidelines, including TP53, CDKN2A, MSH2, and MUTYH.

In all, the sequencing revealed reportable variants in over 30 percent of the patients.

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Large panel genetic testing produces more questions than answers in breast cancer

Genetic Test Shows Who's Who in Cheese Bacteria (and Fungus)

Before you enjoy your next slice of gouda or wedge of brie, you might take a moment to think of all the organisms that have nibbled it before you. Cheeses get the flavors you love from the bacteria and fungi that live on and inside them. And thanks to genetic testing, those microscopic workers are toiling in anonymity no longer.

Some cheese microorganisms have effects you can easily see. Bacteria leave behind bubbles of carbon dioxide in Swiss. Mold sends blue veins through Stilton. But except for fresh varieties like ricotta or goat cheese, every cheese you taste has been ripened by microbes. Some are starter bacteria added to the milk at the beginning of the process; others are smeared on the outside of the cheese after its formed, or allowed to land and grow there naturally from the environment. As these microbes break down the cheeses fats and proteins, the molecules they leave behind create its flavor.

Most studies focusing on cheese surface bacteria [have] focused on soft cheese, says Stephan Schmitz-Esser, a researcher at the Institute for Milk Hygiene at the University of Veterinary Medicine in Vienna, Austria. He and his coauthors decided to investigate a hard cheese instead: Vorarlberger Bergkse, which well call VB. This artisanal Austrian cheese starts with raw cows milk (from Alpine pastures, Schmitz-Esser notes) and a certain set of added bacterial cultures.* The cheese ripens for 3 to 18 months while its outside is washed or brushed periodically with salt. Finally its sold in wheels weighing nearly 70 pounds.

Schmitz-Esser visited three Austrian cheese facilities, with a total of seven cheese-ripening cellars. From each cellar, he gathered scrapings from the rinds of 25 to 30 cheese wheels and pooled them into one sample.Then the researchers sequenced the RNA within each sample to look for recognizable bacterial and fungal genes.

On the genus level, Schmitz-Esser says, most of the microorganisms they found (such asBrevibacterium, Brachybacterium, and Corynebacterium)are similar to those seen in other cheeses. But within these broad types of bacteria, the species living on VB make up a unique community, different from other cheeses. Several of the bacteria that turned up may even be new species, the authors write.

(Four out of the seven samples also included small amounts of DNA from a bug: namely, the miteAcarus immobilis. Certain cheeses are traditionally ripened by mites, the authors point outbut lets not dwell on that any longer.)

Each of the three cheese-making facilities had a different microbial signature. When cheeses were broken down by ageyounger batches, which had been ripening for less than six months, versus older onesthere was also a significant difference between their microbial communities. Our results suggest that facilities may have an influence on cheese microbes, Schmitz-Esser says. But the most distinct changes were found with respect to ripening time.

Surprisingly, the most abundant species on VB cheese wereHalomonas bacteria. In the past, these bacteria were thought to show that a dairy facility just wasnt clean. But the salt-loving microbes, which come from the ocean, may reach cheeses via brine treatments. We think that [Halomonas]may have an important role in cheese ripening, Schmitz-Esser says. But for now, the evidence is only circumstantial. We currently dont know anything about the function of Halomonas.

In the long term, Schmitz-Esser hopes studies like this one can lead to even better cheese. Clearly the microbial communities are key to flavor production, he says.Figuring out how different microbes contribute to cheese ripeninghow their actions create those signature flavorscould help cheese producers create exactly what they want. For now, though, the first step is to identify who is there.

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Genetic Test Shows Who's Who in Cheese Bacteria (and Fungus)

Dyann Wirth (2013) Malaria: "Genetics and Global Health" – Video


Dyann Wirth (2013) Malaria: "Genetics and Global Health"
Professor Dyann Wirth (Harvard School of Public Health) gave this seminar on Genetics and Global Health in Barcelona on 8 May 2013. The talk was the second of the Global Health Lectures series,...

By: MESA Alliance

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Dyann Wirth (2013) Malaria: "Genetics and Global Health" - Video

What is Genetics? (with pictures) – wiseGEEK

anon113973 Post 5

this is good and all, but you will never be able to figure everything out. We are just not God, my thoughts on trying to perfect every little thing the human mind tries to figure out? Just leave that 1 percent alone.

@ Georgesplane- A few years past the turn of the millennium, scientists from the U.S Department of Energy, the National Human Genome Research Institute, and the International Human genome Sequencing Consortium completed the mapping of the human genome. The Human Genome is the map of human genetics; a complete list of the 3 billion base pairs that make up human DNA.

The mapping and sequencing of the genome is 99% complete, but scientists are still working on determining what every gene does (the other 1% cannot be mapped until new technologies are invented). As scientists learn more about the purpose of the different base pairs and genes, they will be able to develop better drugs, create better diagnostic tools, and better manage genetic diseases.

Just like anything else, though, the understanding of genetics can open the window for potential harm. With the advancement of bioengineering, comes the potential for bioengineered threats. This is why the bulletin of Atomic Scientists have added biosecurity to the list of threats monitored in the overview of the doomsday clock.

What is the Human Genome? Is this part of the study of genetics? If so, has the government or researchers finished mapping the Human Genome? Additionally, what is the significance of the Human Genome? Is it going to allow us to change our genetics, orwhat exactly is the genome going to be used for?

The study of human haplogroup population genetics focuses on tracing haplogroups of Y-chromosome (paternal) and mitochondrial (maternal) DNA. This study shows a very high amount of commonalities in haplogroups among people groups of surprising geographic distance. This field, although still advancing from its early stages, indicates a common ancestor for all human beings (Mitochondrial Eve) from whom all mitochondrial DNA is derived.

In the past, geneticists have made the fatal error of assigning value to certain traits over others and assuming an inequity in the quality of life based on which genes a person has inherited. Such misconceptions led to Eugenics and the belief in Racial Superiority. It is helpful to recognize the fact that, although genes differ, they allow us humans to complement each other very well, with a recognition that greater diversity is both effective and beautiful.

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What is Genetics? (with pictures) - wiseGEEK

Rutgers' Human Genetics Institute Wins $19 Million Federal Contract

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Newswise NEW BRUNSWICK, N.J. The National Institute on Drug Abuse (NIDA) has awarded a five-year contract worth up to $19 million to RUCDR Infinite Biologics, a unit of Rutgers Human Genetics Institute of New Jersey. The worlds largest university-based biorepository, RUCDR Infinite Biologics is located on Rutgers Busch Campus in Piscataway.

Under the new contract, RUCDR will expand and enhance the services it provides through its NIDA Center for Genetic Studies, which it has supported for the past 15 years. The Center provides genomic services to NIDA-funded researchers.

Because the Rutgers operation has been continuously acquiring new equipment and systems, and refining the techniques its staff employs, the genomic testing and analysis for NIDA studies will be significantly more sophisticated than in previous years, according to Jay Tischfield, CEO and founder of RUCDR Infinite Biologics and the Duncan and Nancy Macmillan Distinguished Professor of Genetics at Rutgers.

Under this new contract with NIDA, we will be utilizing innovative technologies to support research, such as microarray typing and high-throughput sequencing for genomic and epigenomic analyses, Tischfield said. We also will support NIDA projects that employ induced pluripotent stem cells to facilitate the molecular and cellular study of brain development and addiction processes.

The NIDA Center for Genetic Studies is a scientific resource for informing the human molecular genetics of drug addiction. The center stores clinical and diagnostic data, pedigree information and biomaterials (including DNA, plasma, cryopreserved lymphocytes and/or cell lines) from human subjects participating in studies that form the NIDA Genetics Consortium.

The contract includes receiving data along with blood samples or other biospecimens from funded grants and/or contracts supporting research on the genetics of addiction and addiction vulnerability; processing these data and materials to create databases, serum, DNA, RNA and cell lines; distributing all data and materials in the NIDA Human Genetics Initiative to qualified investigators; and maintaining storage of data and biomaterials.

RUCDR has a similar agreement with the National Institute of Mental Health to support the NIMH Center for Collaborative Genomics Research on Mental Disorders, which provides services to NIMH-funded scientists studying mental disorders. A $44.5 million, five-year cooperative agreement renewal was awarded in 2013.

About RUCDR Infinite Biologics RUCDR Infinite Biologics offers a complete and integrated selection of biological sample processing, analysis and biorepository services to government agencies, academic institutions, foundations and biotechnology and pharmaceutical companies within the global scientific community. RUCDR Infinite Biologics provides DNA, RNA and cell lines with clinical data to hundreds of research laboratories for studies on mental health and developmental disorders, drug and alcohol abuse, diabetes and digestive, liver and kidney diseases. RUCDR completed an $11.8 million expansion and renovation of its facilities last year. Read more at http://www.rucdr.org.

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Rutgers' Human Genetics Institute Wins $19 Million Federal Contract

Cancer Stem Cells Under the Microscope at Albert Einstein College of Medicine Symposium

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Newswise May 13, 2014 (BRONX, NY) Healthy stem cells work to restore or repair the bodys tissues, but cancer stem cells have a more nefarious mission: to spawn malignant tumors. Cancer stem cells were discovered a decade ago, but their origins and identity remain largely unknown.

Today, the Ruth L. and David S. Gottesman Institute for Stem Cell and Regenerative Medicine Research at Albert Einstein College of Medicine of Yeshiva University hosted its second Stem Cell Symposium, focusing on cancer stem cells. Leading scientists from the U.S., Canada and Belgium discussed the latest advances in the field and highlighted the challenges of translating this knowledge into targeted cancer treatments.

These exceptional scientists are pioneers in the field and have made enormous contributions to our understanding of the biology of stem cells and cancer, said Paul Frenette, M.D., director and chair of Einsteins Stem Cell Institute and professor of medicine and of cell biology. Hopefully this symposium will spark productive dialogues and collaborations among the researchers who attend.

The presenters were:

Cancer Stem Cells and Malignant Progression, Robert A. Weinberg, Ph.D., Daniel K. Daniel K. Ludwig Professor for Cancer Research Director, Ludwig Center of the Massachusetts Institute of Technology; Member, Whitehead Institute for Biomedical Research Towards Unification of Cancer Stem Cell and Clonal Evolution Models of Intratumoral Heterogeneity, John Dick, Ph.D., Canada Research Chair in Stem Cell Biology and senior scientist, Princess Margaret Cancer Center, University Health Network; professor of molecular genetics, University of Toronto Normal and Neoplastic Stem Cells, Irving L. Weissman, M.D., Director, Institute for Stem Cell Biology and Regenerative Medicine and Director, Stanford Ludwig Center for Cancer Stem Cell Research and Medicine; Professor of Pathology and Developmental Biology, Stanford University School of Medicine Cell Fate Decisions During Tumor Formation, Leonard I. Zon, M.D., Grousbeck Professor of Pediatric Medicine, Director, Stem Cell Research Program, Howard Hughes Medical Institute/Boston Children's Hospital, Harvard Medical School Skin Stem Cells in Silence, Action and Cancer, Elaine Fuchs, Ph.D., Rebecca C. Lancefield Professor, Laboratory of Mammalian Cell Biology and Development, Howard Hughes Medical Institute/The Rockefeller University Mechanism Regulating Stemness in Skin Cancer, Cdric Blanpain, M.D., Ph.D., professor of stem cell and developmental biology, WELBIO, Interdisciplinary Research Institute, Universit Libre de Bruxelles Mouse Models of Malignant GBM: Cancer Stem Cells and Beyond, Luis F. Parada, Ph.D., professor and chairman, Diana K and Richard C. Strauss Distinguished Chair in Developmental Biology; Director, Kent Waldrep Foundation Center for Basic Neuroscience Research; Southwestern Ball Distinguished Chair in Nerve Regeneration Research, University of Texas Southwestern Medical Center

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About Albert Einstein College of Medicine of Yeshiva University

Albert Einstein College of Medicine of Yeshiva University is one of the nations premier centers for research, medical education and clinical investigation. During the 2013-2014 academic year, Einstein is home to 734 M.D., 236 Ph.D. students, 106 students in the combined M.D./Ph.D. program, and 353 postdoctoral research fellows. The College of Medicine has more than 2,000 full-time faculty members located on the main campus and at its clinical affiliates. In 2013, Einstein received more than $155 million in awards from the National Institutes of Health (NIH). This includes the funding of major research centers at Einstein in diabetes, cancer, liver disease, and AIDS. Other areas where the College of Medicine is concentrating its efforts include developmental brain research, neuroscience, cardiac disease, and initiatives to reduce and eliminate ethnic and racial health disparities. Its partnership with Montefiore Medical Center the University Hospital and academic medical center for Einstein, advances clinical and translational research to accelerate the pace at which new discoveries become the treatments and therapies that benefit patients. Through its extensive affiliation network involving Montefiore, Jacobi Medical CenterEinsteins founding hospital, and five other hospital systems in the Bronx, Manhattan, Long Island and Brooklyn, Einstein runs one of the largest residency and fellowship training programs in the medical and dental professions in the United States. For more information, please visit http://www.einstein.yu.edu, read our blog, follow us on Twitter, like us on Facebook, and view us on YouTube.

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Cancer Stem Cells Under the Microscope at Albert Einstein College of Medicine Symposium

Stem cell technology points to early indicators of schizophrenia

Using new stem cell technology, scientists at the Salk Institute have shown that neurons generated from the skin cells of people with schizophrenia behave strangely in early developmental stages, providing a hint as to ways to detect and potentially treat the disease early.

The findings of the study, published online in April's Molecular Psychiatry, support the theory that the neurological dysfunction that eventually causes schizophrenia may begin in the brains of babies still in the womb.

"This study aims to investigate the earliest detectable changes in the brain that lead to schizophrenia," says Fred H. Gage, Salk professor of genetics. "We were surprised at how early in the developmental process that defects in neural function could be detected."

Currently, over 1.1 percent of the world's population has schizophrenia, with an estimated three million cases in the United States alone. The economic cost is high: in 2002, Americans spent nearly $63 billion on treatment and managing disability. The emotional cost is higher still: 10 percent of those with schizophrenia are driven to commit suicide by the burden of coping with the disease.

Although schizophrenia is a devastating disease, scientists still know very little about its underlying causes, and it is still unknown which cells in the brain are affected and how. Previously, scientists had only been able to study schizophrenia by examining the brains of patients after death, but age, stress, medication or drug abuse had often altered or damaged the brains of these patients, making it difficult to pinpoint the disease's origins.

The Salk scientists were able to avoid this hurdle by using stem cell technologies. They took skin cells from patients, coaxed the cells to revert back to an earlier stem cell form and then prompted them to grow into very early-stage neurons (dubbed neural progenitor cells or NPCs). These NPCs are similar to the cells in the brain of a developing fetus.

The researchers generated NPCs from the skin cells of four patients with schizophrenia and six people without the disease. They tested the cells in two types of assays: in one test, they looked at how far the cells moved and interacted with particular surfaces; in the other test, they looked at stress in the cells by imaging mitochondria, which are tiny organelles that generate energy for the cells.

On both tests, the Salk team found that NPCs from people with schizophrenia differed in significant ways from those taken from unaffected people.

In particular, cells predisposed to schizophrenia showed unusual activity in two major classes of proteins: those involved in adhesion and connectivity, and those involved in oxidative stress. Neural cells from patients with schizophrenia tended to have aberrant migration (which may result in the poor connectivity seen later in the brain) and increased levels of oxidative stress (which can lead to cell death).

These findings are consistent with a prevailing theory that events occurring during pregnancy can contribute to schizophrenia, even though the disease doesn't manifest until early adulthood. Past studies suggest that mothers who experience infection, malnutrition or extreme stress during pregnancy are at a higher risk of having children with schizophrenia. The reason for this is unknown, but both genetic and environmental factors likely play a role.

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Stem cell technology points to early indicators of schizophrenia

Stem Cells Make Heart Disease-on-a-Chip

Harvard scientists have merged stem cell and organ-on-a-chip technologies to grow, for the first time, functioning human heart tissue carrying an inherited cardiovascular disease. The research appears to be a big step forward for personalized medicine because it is working proof that a chunk of tissue containing a patient's specific genetic disorder can be replicated in the laboratory.

The work, published in May 2014 in Nature Medicine, is the result of a collaborative effort bringing together scientists from the Harvard Stem Cell Institute, the Wyss Institute for Biologically Inspired Engineering, Boston Children's Hospital, the Harvard School of Engineering and Applied Sciences, and Harvard Medical School. It combines the organs-on-chips expertise of Kevin Kit Parker, PhD, and stem cell and clinical insights by William Pu, MD.

A release from Harvard explains that using their interdisciplinary approach, the investigators modeled the cardiovascular disease Barth syndrome, a rare X-linked cardiac disorder caused by mutation of a single gene called Tafazzin, or TAZ. The disorder, which is currently untreatable, primarily appears in boys, and is associated with a number of symptoms affecting heart and skeletal muscle function.

The researchers took skin cells from two Barth syndrome patients, and manipulated the cells to become stem cells that carried these patients' TAZ mutations. Instead of using the stem cells to generate single heart cells in a dish, the cells were grown on chips lined with human extracellular matrix proteins that mimic their natural environment, tricking the cells into joining together as they would if they were forming a diseased human heart. The engineered diseased tissue contracted very weakly, as would the heart muscle seen in Barth syndrome patients. The investigators then used genome editinga technique pioneered by Harvard collaborator George Church, PhDto mutate TAZ in normal cells, confirming that this mutation is sufficient to cause weak contraction in the engineered tissue. On the other hand, delivering the TAZ gene product to diseased tissue in the laboratory corrected the contractile defect, creating the first tissue-based model of correction of a genetic heart disease. The release quotes Parker as saying, "You don't really understand the meaning of a single cell's genetic mutation until you build a huge chunk of organ and see how it functions or doesn't function. In the case of the cells grown out of patients with Barth syndrome, we saw much weaker contractions and irregular tissue assembly. Being able to model the disease from a single cell all the way up to heart tissue, I think that's a big advance."

Furthermore, the scientists discovered that the TAZ mutation works in such a way to disrupt the normal activity of mitochondria, often called the power plants of the cell for their role in making energy. However, the mutation didn't seem to affect overall energy supply of the cells. In what could be a newly identified function for mitochondria, the researchers describe a direct link between mitochondrial function and a heart cell's ability to build itself in a way that allows it to contract. "The TAZ mutation makes Barth syndrome cells produce an excess amount of reactive oxygen species or ROSa normal byproduct of cellular metabolism released by mitochondriawhich had not been recognized as an important part of this disease," said Pu, who cares for patients with the disorder. "We showed that, at least in the laboratory, if you quench the excessive ROS production then you can restore contractile function," Pu added. "Now, whether that can be achieved in an animal model or a patient is a different story, but if that could be done, it would suggest a new therapeutic angle." His team is now trying to translate this finding by doing ROS therapy and gene replacement therapy in animal models of Barth syndrome to see if anything could potentially help human patients. At the same time, the scientists are using their human 'heart disease-on-a-chip' as a testing platform for drugs that are potentially under trial or already approved that might be useful to treat the disorder.

"We tried to thread multiple needles at once and it certainly paid off," Parker said. "I feel that the technology that we've got arms industry and university-based researchers with the tools they need to go after this disease." Both Parker and Pu, who first talked about collaborating at a 2012 Stockholm conference, credit their partnership and scientific consilience for the success of this research. Parker asserted that the 'organs-on-chips' technology that has been a flagship of his lab only worked so fast and well because of the high quality of Pu's patient-derived cardiac cells. "When we first got those cells down on the chip, Megan, one of the joint first authors, texted me 'this is working,'" he recalled. "We thought we'd have a much harder fight." "When I'm asked what's unique about being at Harvard, I always bring up this story," Pu said. "The diverse set of people and cutting-edge technology available at Harvard certainly made this study possible." The researchers also involved in this work include: Joint first authors Gang Wang, MD, of Boston Children's Hospital, and Megan McCain, PhD, who earned her degree at the Harvard School of Engineering and Applied Sciences and is now an assistant professor at the University of Southern California. Amy Roberts, MD, of Boston Children's Hospital, and Richard Kelley, MD, PhD, at the Kennedy Krieger Institute provided patient data and samples, and Frdric Vaz, PhD, and his team at the Academic Medical Center in the Netherlands conducted additional analyses. Technical protocols were shared by Kenneth Chien, MD, PhD, at the Karolinska Institutet.

Kevin Kit Parker, PhD, is the Tarr Family Professor of Bioengineering and Applied Physics in Harvard's School of Engineering and Applied Sciences, a Core Faculty member of the Wyss Institute for Biologically Inspired Engineering, and a Principal Faculty member of the Harvard Stem Cell Institute. William Pu, MD, is an Associate Professor at Harvard Medical School, a member of the Department of Cardiology at Boston Children's Hospital, and an Affiliated Faculty member of the Harvard Stem Cell Institute. George Church, PhD, is a Professor of Genetics at Harvard Medical School and a Core Faculty member of the Wyss Institute of Biologically Inspired Engineering. The work was supported by the Barth Syndrome Foundation, Boston Children's Hospital, the National Institutes of Health, and charitable donations from Edward Marram, Karen Carpenter, and Gail Federici Smith.

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Stem Cells Make Heart Disease-on-a-Chip

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