image courtesy Sheila Kambin

image courtesy Sheila Kambin

From the first time Dr. Sheila Kambin laid eyes on her newborn son Aidan, she knew something wasnt right.

Aidan had a sacral pita dimple on his lower backand low set ears. He was full term but weighed just 5 pounds and was sent to a neonatal intensive-care unit (NICU) where he was evaluated for low platelet count, low blood sugar, problems with temperature regulation and feeding.

He was never able to latch, but I never knew why, she said.

At just 4 months old, Aidan had surgery to repair an inguinal hernia, a bulge in the abdominal muscles. He also had ligament laxity (loose ligaments), hammer toes, distinct facial features, long tapered fingers, and the uvula in the back of his throat was split into two. Kambin later learned Aidan had a submucous cleft palate, or a cleft palate covered by a membrane, the reason for his feeding troubles.

Perhaps one of the most concerning symptoms to Kambin was that Aidan wasnt reaching his developmental milestones.

We started to notice he was delayed by about 6 months on every single one of them, she said.

His preschool teacher was also concerned.

His teacher said, Ive been teaching preschool for 30 years and Im not sure what exactly is wrong with Aiden but something is wrong with him.

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Genetic disorder discovered

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Although LDL is an important risk factor for aortic valve disease, the precise role it plays has been uncertain. Lipid-lowering therapy in people with established aortic valve disease has not been shown to be beneficial. Now, however,a new genetic study published inJAMAsuggests that LDL cholesterol may in fact cause an increase in aortic valve calcium and aortic valve stenosis. This may mean that LDL-lowering therapy could prove beneficial when given earlier in the disease process.

Researchers in theCohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium used Mendelian randomization to assess in nearly 7,000 people the association of a genetic risk score with the presence of aortic valve calcium. They founda strong association between the genetic risk score for LDL and the presence of aortic valve calcium.

The researchers also analyzed data from more than 28,000 participants in thethe Malm Diet and Cancer Study (MDCS). The genetic risk score for LDL was significantly associated with the incidence of aortic stenosis as ascertained from national registries.

Our findings link a genetically mediated increase in plasma LDL-C with early subclinical valve disease, as measured by aortic valve calcium, and incident clinical aortic stenosis, providing supportive evidence for a causal role of LDL-C in the development of aortic stenosis, write the authors. The authors speculate that LDL lowering may not be effective in established valve disease once valve calcification and remodeling are well established But, they write, our results suggest that early lipid lowering, prior to the development of even mild forms of aortic stenosis, may be required to prevent aortic valve disease.

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Genetic Study Suggests Possible Causal Role for Cholesterol In Heart Valve Disease

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October 2014 Webinar Family Genetics
Learning about health, family history and what information to collect is important! As we prepare for November as Health History Month, the holidays provide ...

By: FightCRC

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Theme 3 Gene Expression Part 1 Genetics Basics

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In Vivo Gene Therapy for Cystic Fibrosis Part 4
In this video we discuss the use of In Vivo gene therapy to treat Cystic Fibrosis.

By: Ben Garside

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In Vivo Gene Therapy for Cystic Fibrosis Part 4 - Video

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In Vivo Gene Therapy for Cystic Fibrosis Part 2
In this video we discuss the use of In Vivo gene therapy to treat Cystic Fibrosis.

By: Ben Garside

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In Vivo Gene Therapy for Cystic Fibrosis Part 2 - Video

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Course Preview - Principles and Practices of Gene Therapy

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Course Preview - Principles and Practices of Gene Therapy - Video

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CAN GENE THERAPY CURE HIV? with PAULA CANNON
Paula Cannon from the University of Southern California and the defeatHIV Collaboratory tells us why everyone should more seriously consider the gene therapy approach to fuctionally curing...

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CAN GENE THERAPY CURE HIV? with PAULA CANNON - Video

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Cell Gene Therapy Opening ceremony
3rd International Conference and Exhibition on Cell Gene Therapy, October 27-29, 2014 at Las Vegas, USA. Cell Therapy conference is an outstanding event co...

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Cell & Gene Therapy Opening ceremony - Video

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How Nose Cells Helped A Man Walk Again!
A spine injury could ruin your mobility for the rest of your life, but new research might change that! Julian discusses a new treatment that uses cells from the nose in order to make someone...

By: DNews

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How Nose Cells Helped A Man Walk Again! - Video

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Payer Perspectives on Regenerative Medicine Advanced Therapies
This session will explore payer views of advanced therapies such as cell therapy, gene therapy and tissue engineered products. The panel is comprised of repr...

By: Alliance for Regenerative Medicine

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Koichi Mikami: Regenerative Medicine and Distributions of Responsibility

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The clones are coming! The clones are coming! (Maybe.) Doctors have grown a retina in a petri dish using stem cells from a 70-year-old patients skin and successfully transplanted the retina to her eye at Japan's Riken Center for Developmental Biology.

This marks the first time a transplanted organ was grown from skin cells from the recipient and not an embryo, The Globe and Mail reports. Until now, scientists have been mired in a debate regarding the use of embryonic stem cells to create transplant tissue. Using a patients own adult stem cells avoids that controversy and also reduces the chance the patient could reject the transplant.

Stem cells hold the promise of curing many diseases, including macular degeneration and Parkinsons.

However, there are risks associated with using adult stem cells. Scientists must turn regular adult cells into dividing cells, and there is concern that cells could turn cancerous after transplant. You only need one stem cell left in the graft that could lead to cancer, Dr. Janet Rossant told the The Globe and Mail. Rossant is chief of research at Torontos Hospital for Sick Children and past president of the International Society for Stem Cell Research.

The Riken Center for Developmental Biology has also been in the news lately because its deputy director committed suicide following accusations of scientific misconduct and the retraction of two papers (unrelated to this stem-cell procedure) that were published in the journal Nature.

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Doctors Use Adult (Not Embryonic) Stem Cells To Grow And Implant Petri-Dish Retina

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Durham, NC (PRWEB) October 24, 2014

A new way to produce engineered skin not only appears to overcome several pitfalls of current skin grafting technologies, it also speeds up the healing process, reduces scarring and produces hair. The method, outlined in the October issue of STEM CELLS Translational Medicine, could represent a breakthrough for treating deep skin injuries that result from severe burns and chronic wounds.

A deep skin injury completely destroys the skins regenerative elements. These wounds heal by contraction, with epithelization (the process by which a new layer of skin is formed) only at the edges. The result is generally reduced joint movement and extensive scarring. In the case of an extensive lesion, healing can sometimes be unsuccessful and the lesion becomes life threatening.

Engineered tissue shows promise as a way to treat deep skin injuries, but its success depends on finding a suitable formula of stem cells for seeding the scaffold upon which the skin substitute is grown.

Mara Eugenia Bala, Ph.D., principal investigator at the National Scientific and Technical Research Council (Consejo Nacional de Investigaciones Cientficas y Tcnicas - CONICET) in Buenos Aires, led a team of the Instituto de Ciencia y Tecnologa Csar Milstein researchers in evaluating what happens when dermal papilla cells, found at the hair follicle bulb, are infused with human hair follicle stem cells (HFSCs). Her group tested three different engineered tissues using a cell-free dermal matrix as a scaffold and seeded it with human adult cell mixtures: one scaffold was seeded with HFSCs alone, another with HFSCs plus human dermal papilla cells, and a third with a mix of HFSCs and human dermal fibroblasts.

Initial laboratory results showed that the engineered tissue containing HFSC and dermal papilla cells had a more regular stratification pattern and a higher number of p63-positive basal epidermal cells, which make up the lower layer of the epidermis (skin), than those carrying HFSC and dermal fibroblasts. p63 expression is considered an epithelial stem cell marker of the epidermis.

They next grafted the dermal papilla cell-containing engineered tissue onto nude mice and found similar results: Over time the skin maintained a constant number of p63-positive cells. These results suggest that an epidermal stem cell population is maintained in the graft, allowing the physiological turnover of skin cells.

In addition, Dr. Bala said, our study suggested that the presence of dermal papilla cells in engineered skin encouraged the graft to take and stimulated the wound healing process. Furthermore, we showed for the first time to our knowledge that the mixture of dermal papilla cells and HFSCs, both of adult human origin, were able to induce hair bud-like structures reminiscent of the hair follicle growth process.

Dr. Gustavo Jos Leirs, co-author of this study, added, The use of cells from adult origin in bioengineered skin substitutes constitutes a promising finding due to their easy access from the patient himself. These results indicate that this type of skin substitute could represent a true permanent device.

The development of new treatments for burn injuries and other wounds is a significant clinical need, said Anthony Atala, M.D., editor of STEM CELLS Translational Medicine and director of the Wake Forest Institute for Regenerative Medicine. This study demonstrates the promise of using dermal papilla cells as a component of engineered skin to produce a functional skin equivalent.

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New engineering method shows promise for faster healing, more cosmetically appealing skin grafts

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UC San Diego has been named an "alpha clinic" for the clinical study of stem cells, and the distinction comes with $8 million in research grants.

Stem cell therapies represent a new way of treating disease by regenerating damaged tissues and organs. Spokesmen for the UCSD school of medicine say the alpha clinic will focus on clinical trials in humans, not just basic research based on animals.

The decision to make UCSD an alpha clinic was announced Friday by the California Institute for Regenerative Medicine, which was created by California voters after they approved $3 billion for stem cell funding in 2004.

Everything we do has one simple goal, to accelerate the development of successful treatments for people in need, said C. Randal Mills, CIRM president and CEO.

Catriona Jamieson, professor of medicine at UC San Diego School of Medicine, is the alpha clinic grants principal investigator. She said the clinic will provide needed infrastructure for first-in-human stem cell-related clinical trials.

"It will attract patients, funding agencies and study sponsors to participate in, support and accelerate novel stem cell clinical trials and ancillary studies for a range of arduous diseases, Jamieson said.

The university has already announced human stem cell trials, aimed at treating spinal chord injuries, leukemia and type-1 diabetes.

UCSD spokesmen said researchers are conducting those trials using fetal and embryonic stems cells, as well as stem cells made from reprogramming skin cells.

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UCSD Gets $8 Million For Stem Cell Research

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Tuffy stem cell therapy patient
Tuffy 2 months after he received Stem Cell Therapy here. He is running around now like nothing happened. I can not believe he was hit by a car and broke his back in 2 places just 2 months ago.

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Lyme Disease and Embryonic Stem Cell Therapy Testimonial
Kim gives a testimonial after 3 months of having followed the Stemaid Lyme Disease Protocol.

By: stemaid

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Lyme Disease and Embryonic Stem Cell Therapy Testimonial - Video

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Rotten Potatos and the national intelligence genius genetic engineering study group
So look i know you bloody americans need help from time to time so heres a nice little place to go, Rotten Tomatos, ill give ya some stats on it and we can g...

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Rotten Potatos and the national intelligence genius genetic engineering study group - Video

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Scientists say they can embed sophisticated genetic tests onto a piece of paper.

These slips of paper carry freeze-dried ingredients for simple scientific experiments.

Could complex genetic experiments one day be as simple to carry out as an over-the-counter pregnancy test?

Thats the idea behind new research from James Collins, a synthetic biologist at Boston University, who says hes been able to print the ingredients for simple DNA experiments on paper, freeze-dry them, and use them as much as a year later.

The work, described this week in the journal Cell by Collins and colleagues from Harvard, could lead to bandages that change color if an infection is developing, environmental sensors worn on clothing, or cheap diagnostics for viruses like Ebola.

The idea of inexpensive paper-based diagnostics isnt new. But so far, these tests have relied on traditional chemistry like pregnancy tests do (see Super-Cheap Health Tests and Paper Diagnostics). Collins says his work now extends the idea to precisely engineered genetic reactions.

The technology is an adaptation of a workhorse lab method known as a cell free system, in which the basic processes of a cellsuch as reading a DNA strand to make a proteinare carried out in a test tube.

The advance Collins made was to embed cell-free systems onto porous paper. His team added some essential enzymes as well as specially designed genes that make proteins, but only if theyre triggered by a matching strand of DNA or RNA.

Its a pragmatic, very big-deal improvement, says Julius Lucks, an assistant professor of chemical and biological engineering at Cornell University. Now we can ask What do we want to do [with it]?

Collins showed the system could detect the Ebola virus, whose genetic code consists of RNA. When his team added bits of Ebola RNA to paper test strips, the genetic material completed a circuit allowing production of a protein which stained the paper, causing it to turn dark purple in about an hour.

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Synthetic Biologists Create Paper-Based Diagnostic for Ebola

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PUBLIC RELEASE DATE:

24-Oct-2014

Contact: Lori Sundeen Soderbergh lori.soderbergh@utsouthwestern.edu 214-648-3404 UT Southwestern Medical Center @UTSWNews

DALLAS October 24, 2014 Genetic screening services for rural and underserved populations will expand from six to 22 counties in North Texas under a $1.5 million grant from the Cancer Prevention and Research Institute of Texas (CPRIT) to UT Southwestern Medical Center.

The goal is to identify patients with Hereditary Breast-Ovarian Cancer (HBOC) and Lynch syndrome, two of the most commonly inherited cancer predisposition syndromes. For those carrying these mutations, the lifetime risk for breast, ovarian, colorectal, and uterine cancer is as high as 85 percent.

"Overall, about 10 percent of cancer diagnoses are hereditary," said Linda Robinson, Assistant Director of Clinical Cancer Genetics at UTSouthwestern. "The power of genetic testing is that we can lessen the amount of treatment for these people by finding the cancer early, and for some patients we can prevent it from happening altogether."

Cancer Genetic Services for Rural and Underserved Populations in Texas is part of the Genetics Department at the Harold C. Simmons Cancer Center, in partnership with Parkland Memorial Hospital in Dallas and the Moncrief Cancer Institute and JPS Health Network in Fort Worth. The cost of the genetic evaluation and testing is covered through the CPRIT grant and other external funding sources.

"This support from CPRIT is crucial in enabling us to offer genetic counseling to populations who have never received these services," said Dr. James K.V. Willson, Dean of Oncology Programs, Professor and Director of the Harold C. Simmons Comprehensive Cancer Center, Professor of Internal Medicine, and holder of The Lisa K. Simmons Distinguished Chair in Comprehensive Oncology.

The principal investigator on the grant is Dr. Keith Argenbright, Director of the Moncrief Cancer Institute, Associate Professor at the Harold C. Simmons Cancer Center and Department of Clinical Science, UT Southwestern.

"We now have the ability to connect with patients through telemedicine, a high tech communications system linking patients in outlying counties with our genetic specialists," said Dr. Argenbright. "With this new grant, we are building on the success of a similar program CPRIT funded three years ago, which brought state-of-the art genetic testing closer to home for our patients."

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UTSW researchers receive CPRIT funding to expand genetic screening program

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Newswise DALLAS October 24, 2014 Genetic screening services for rural and underserved populations will expand from six to 22 counties in North Texas under a $1.5 million grant from the Cancer Prevention and Research Institute of Texas (CPRIT) to UT Southwestern Medical Center.

The goal is to identify patients with Hereditary Breast-Ovarian Cancer (HBOC) and Lynch syndrome, two of the most commonly inherited cancer predisposition syndromes. For those carrying these mutations, the lifetime risk for breast, ovarian, colorectal, and uterine cancer is as high as 85 percent.

Overall, about 10 percent of cancer diagnoses are hereditary, said Linda Robinson, Assistant Director of Clinical Cancer Genetics at UTSouthwestern. The power of genetic testing is that we can lessen the amount of treatment for these people by finding the cancer early, and for some patients we can prevent it from happening altogether.

Cancer Genetic Services for Rural and Underserved Populations in Texas is part of the Genetics Department at the Harold C. Simmons Cancer Center, in partnership with Parkland Memorial Hospital in Dallas and the Moncrief Cancer Institute and JPS Health Network in Fort Worth. The cost of the genetic evaluation and testing is covered through the CPRIT grant and other external funding sources.

This support from CPRIT is crucial in enabling us to offer genetic counseling to populations who have never received these services, said Dr. James K.V. Willson, Dean of Oncology Programs, Professor and Director of the Harold C. Simmons Comprehensive Cancer Center, Professor of Internal Medicine, and holder of The Lisa K. Simmons Distinguished Chair in Comprehensive Oncology.

The principal investigator on the grant is Dr. Keith Argenbright, Director of the Moncrief Cancer Institute, Associate Professor at the Harold C. Simmons Cancer Center and Department of Clinical Science, UT Southwestern.

We now have the ability to connect with patients through telemedicine, a high tech communications system linking patients in outlying counties with our genetic specialists, said Dr. Argenbright. With this new grant, we are building on the success of a similar program CPRIT funded three years ago, which brought state-of-the art genetic testing closer to home for our patients.

The new grant funds the program for an additional three years. The initial $1.6 million CPRIT grant from 2011 included Tarrant, Dallas, Wise, Hood, Johnson, and Parker counties, a population of 3,511,623. The expansion includes a population increase of 1,156,449 and covers an estimated additional 13,480 square miles, more than double the size of Massachusetts. In Texas, 43 percent of the population is uninsured or underinsured. CPRIT funding allows for genetic services for patients who have never had access to these services before.

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UT Southwestern Researchers Receive CPRIT Funding to Expand Genetic Screening Program to Reach Medically Underserved ...

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Hebrew Israelite DNA: Genetics And Genealogy Establishing The Bloodline
I #39;m a Hebrew Israelite and this channel is for other Hebrews and brothers, sisters and Lost Sheep of Israel, still in search of, and have yet to be found and incorporated back into the Nation...

By: Yoshua ben Ephraim

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Hebrew Israelite DNA: Genetics And Genealogy Establishing The Bloodline - Video

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Stem Cells FDA Oversight
Celia Witten, M.D., Ph.D., Director, Office of Cellular, Tissue, Gene Therapy Center for Biologics Evaluation Research, Food Drug Administration (FDA) For more information on the 2014...

By: Alliance for Regenerative Medicine

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Stem Cells & FDA Oversight - Video

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MiMedx Group - Company Presentation
Presented by: Thomas Koob, Ph.D., Chief Scientific Officer MiMedx, the premier processor of regenerative biomaterial products and implants from human amniotic membrane, has distributed hundreds ...

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Newswise In a study that will provide the foundation for scientists to better replicate natural stem cell development in an artificial environment, UCLA researchers at the Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research led by Dr. Guoping Fan, professor of human genetics, have established a benchmarking standard to assess how culture conditions used to procure stem cells in the lab compare to those found in the human embryo.

The study was published online ahead of print in the journal Cell Stem Cell.

Pluripotent stem cells (PSCs) are cells that can transform into almost any cell in the human body. Scientists have long cultured PSCs in the laboratory (in vitro) using many different methods and under a variety of conditions. Though it has been known that culture techniques can affect what kind of cells PSCs eventually become, no "gold standard" has yet been established to help scientists determine how the artificial environment can better replicate that found in a natural state (in vivo).

Dr. Kevin Huang, postdoctoral fellow in the lab of Dr. Fan and a lead author of the study, analyzed data from multiple existing research studies conducted over the past year. These previously published studies used different culture methods newly developed in vitro in the hopes of coaxing human stem cells into a type of pluripotency that is in a primitive or ground-zero state.

Utilizing recently-published gene expression profiles of human preimplantation embryos as the benchmark to analyze the data, Dr. Huang and colleagues found that culture conditions do affect how genes are expressed in PSCs, and that the newer generation culture methods appear to better resemble those found in the natural environment of developing embryos. This work lays the foundation on the adoption of standardized protocol amongst the scientific community.

"By making an objective assessment of these different laboratory techniques, we found that some may have more of an edge over others in better replicating a natural state," said Dr. Huang. "When you have culture conditions that more consistently match a non-artificial environment, you have the potential for a much better reflection of what is going on in actual human development."

With these findings, Dr. Fan's lab hopes to encourage further investigation into other cell characteristics and molecular markers that determine the effectiveness of culture conditions on the proliferation and self-renewal of PSCs.

"We hope this work will help the research community to reach a consensus to quality-control human pluripotent stem cells," said Dr. Fan.

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UCLA Scientists Propose Benchmark to Better Replicate Natural Stem Cell Development in the Laboratory Environment

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