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Stem cells to transplant in the brain: Stealth UCSF spinout Neurona Therapeutics raises $7.6M

A UCSF spinout is growing neuronal stemcells to transplant into the brain, for potential use in treating epilepsy, spinal cord injury, Parkinsons and Alzheimers disease and investors are listening. Because one thing thatdifferentiatesNeurona Therapeutics is that its stem cells turn exclusively intointerneuron cells which are less likely to be tumorigenic than other IPS cells.

The companyhasraised $7.6 million of a proposed $24.3 million round, according to a regulatory filing. But the companys staying a touch under the radar it lacks a website, and tis the season for calls to the company to remain unanswered.

But funding for the six-year-old company comes from 11 investors. Listed on the documents contact pages areTim Kutzkeyand David Goeddel, both partners at early stage healthcare venture firm The Column Group giving some insight into who the startupsinvestors are.

Also listed is Leo Guthart, a managing partner at New York private equity firm TopSpin Partner, and Arnold Kriegstein, director of the UCSF developmental and stem cell biology program.

Kriegsteinand his UCSF colleagues filed a patentfor the in vitro production of medial ganglionic eminence (MGE) precursor cells which are, in essence, immature cells that morphinto nerve cells. The work that led to the patent was funded bythe California Institute of Regenerative Medicine, the NIH and the Osher Foundation.

We think this one type of cell may be useful in treating several types of neurodevelopmental and neurodegenerative disorders in a targeted way,Kriegstein said in a UCSF statement last year.

Neurona Therapeutics scientific backers collaborated on a paper on these MGE cells inCell Stem Cell,finding that mouse models closely mimicked human cells inneural cell development and that human cells can successfully be transplanted into mouse brains. UCSF writes:

Kriegstein sees MGE cells as a potential treatment to better control nerve circuits that become overactive in certain neurological disorders. Unlike other neural stem cells that can form many cell types and that may potentially be less controllable as a consequence most MGE cells are restricted to producing a type of cell called an interneuron. Interneurons integrate into the brain and provide controlled inhibition to balance the activity of nerve circuits.

To generate MGE cells in the lab, the researchers reliably directed the differentiation of human pluripotent stem cells either human embryonic stem cells or induced pluripotent stem cells derived from human skin. These two kinds of stem cells have virtually unlimited potential to become any human cell type. When transplanted into a strain of mice that does not reject human tissue, the human MGE-like cells survived within the rodent forebrain, integrated into the brain by forming connections with rodent nerve cells, and matured into specialized subtypes of interneurons.

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Stem cells to transplant in the brain: Stealth UCSF spinout Neurona Therapeutics raises $7.6M

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Goodie Mob – Cell Therapy (aka Check who’s that peeking at …

Soul Food (1995) on LaFace Records. http://itunes.apple.com/it/album/soul...

LYRICS

When the scene unfolds Young girls thirteen years old Expose themselves to any Tom, Dick, and Hank Got mo' stretch marks than these hoes Hollin' they got rank See Sega ain't in this new world order Dem experimenting in Atlanta, Georgia United Nations, overseas Trained assassins do search and seize Ain't knocking or asking Dem coming for niggas like me Po' white trash, like they Tricks like her back in slavery Concentration camps lace with gas pipes lines Infernos outdoors like they had back When Adolf Hitler was living in 1945 Listen to me now, believe me Later on in the future look it up Where they say it? In the constitution That in the event of a race war Places like operation Heartbreak Hotel Moments tell until air tight vents seal off despair Dem say expect no mercy Fool you should be my least worry got to deal with W-2's, 1099's Unmarked black helicopters swoop down And try to put missiles in mines

Who's that peeking in my window Pow, nobody now Who's that peeking in my window Pow, nobody now

Me and my family moved in our apartment complex A gate with the serial code was put up next The claim that this community is so drug free But it don't look that way to me 'Cuz I can see the young bloods hanging out at the sto 24/7 junkies looking for a hit of the blow, it's powerful Oh, you know what else they tryin' to do Make a curfew especially for me and you The traces of the new world order Time is getting shorter If we don't get prepared people it's gone be a slaughter My mind won't allow me to not be curious My folk don't understand so they don't take it serious But every now and then, I wonder If the gate was put up to keep crime out or to keep our ass in

Who's that peeking in my window Pow, nobody now Who's that peeking in my window Pow, nobody now

Listen up little niggaz I'm talking to you About what yo little ass need to be going through Or fall a victim too and I know I shouldn't smoke so much But I do with the crew everyday on the average 'bout 4 or 5 I'm lucky to be alive at sunrise now I realize the cost After I lost my best friend Bean I recognize as a King Who am I to tell you to stop smokin' Now you're open to disease and colds And ain't 16 years old, this shit has got to stop Let's take a walk through detox I want outta this hold, I'm in a cell under attack Look up folks they in the hood, got an eye on every move I make open your face to info you ain't know 'Cuz it's kept low how the new world plan Reeks the planet without the black man

So what's your aim, tryin' to separate me from the blood Is disrespect like coming in my home and not Wiping your feet on the rug The Citron Absolut has got me buck and don't hang with no phony Lookout for the man with the mask and the white pony On my back with bills, staying off my toes ,always on my heels Insane plain, soldiers coming in the dark by plane To enforce the new system by reign Tag my skin with your computer chip Run your hand over the scanner to buy you dish now No more fishing for your fish Kiss the days of the old days past ways gone Mind blown, conception, protection My name on your selections but I caught you coming, pow!

Who's that peeking in my window Pow, nobody now Who's that peeking in my window Pow, nobody now

Who's that peeking in my window Pow, nobody now Who's that peeking in my window Pow, nobody now"

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Goodie Mob - Cell Therapy (aka Check who's that peeking at ...

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Transfusion Therapy in Sickle Cell Disease

revised January 4, 2001

Elliot Vichinsky M.D. Director, Hematology/Oncology Oakland Children's Hospital Oakland, California

Transfusions are indicated for either episodic events triggered by an acute complication or a necessary medical intervention (e.g., neurosurgery). In contrast to these episodic indications, some clinical problems require long-term suppression of circulating sickle cells. Chronic transfusion therapy usually achieves this goal.

Several methods of transfusion are available, including simple transfusion, partial exchange transfusion, or erythrocytapheresis. The method used depends on the specific indications. Except for episodes of severe anemia, pheresis offers many benefits and should be available to sickle cell patients.

After the decision to transfuse, several goals should be set, including final post-transfusion hematocrit, percent hemoglobin S desired, and type of red cells to be used. Hyperviscosity from simple transfusion is a dangerous problem in sickle cell patients, and must be avoided. The post-transfusion hematocrit should not exceed 36 percent. In general, limited phenotypically-matched, sickle-negative, leuko-depleted packed cells are the blood product of choice. Finally, there should be a comprehensive transfusion protocol, that includes accurate records, the patient's red cell phenotype, alloimmunization history, number of units received, serial hemoglobin S percentages, and results of infectious and iron overload monitoring results.

The antigenic phenotype of the red cells (at least ABO, Rh, Kell, Duffy, Kidd, Lewis, Lutheran, P, and MNS groups) should be determined in all patients older than 6 months of age. A permanent record should be maintained in the Blood Bank, and a copy of the record should be given to the patient or family. All patients with a history of prior transfusion should be screened for the presence of alloantibodies. The efficacy of a chronic transfusion regimen should be assessed periodically by determining the proportion of hemoglobin S by quantitative hemoglobin electrophoresis as well as the hemoglobin concentration or hematocrit.

The high prevalence of alloimmunization in patients with sickle cell disease likely has several causes. Lack of phenotypic compatibility between the donor and recipient doubtless is a major factor. All patients should receive limited phenotypic matching for antigens E, C and Kell. Extensive phenotypic matching is recommended for patients who have formed alloantibodies.

Pre-storage leuko-depletion of red cells is standard practice to reduce febrile reactions, platelet refractoriness, infections, and cytokine-induced complications. Washed red cells should be reserved for patients with a history of allergic reactions following transfusion.

Irradiated blood products should be considered in possible bone marrow transplantation candidates. Relatives should not be used as blood donors for children who could be candidates for bone marrow transplantation.

Autologous blood transfusions for patients with sickle cell disease should be avoided. Red cell substitutes are experimental and generally not indicated.

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Transfusion Therapy in Sickle Cell Disease

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Stem cell transplant may help patients with MS

An experimental treatment that uses a patient's own stem cells may offer new hope for people with multiple sclerosis.

In a small clinical trial, patients experienced long-term disease remission after undergoing a transplant of their own hematopoietic stem cells. This type of cell is responsible for the formation of blood in the body and are typically derived from bone marrow. The patients also took high-dose immunosuppressive drugs.

The paper, published Monday in JAMA Neurology, reports on the third year of a five-year study. A total of 24 patients with active relapsing-remitting MS were enrolled in the trial. With this type of MS, patients have points when their disease is active followed by periods when they do not experience any symptoms.

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Dr. Jon LaPook goes inside the trial and approval process for an experimental treatment using stem cells designed to make Multiple Sclerosis pati...

The researchers found that nearly 79 percent of the patients who underwent the procedure sustained full neurologic function for the three years following the treatment and symptoms of their disease did not progress. Additionally, patients in that time period did not develop any new lesions related to their disease.

More than 90 percent of patients did not experience disease progression, while 86 percent did not have any periods of relapse. Though a small number of patients did have side effects from the immunosuppressive drugs, they were no different than the side effects typically experienced by MS patients taking the drugs who haven't undergone stem cell therapy.

"Longer follow-up is needed to determine the durability of the response," the authors write in the study. "Careful comparison of the results of this investigation and other ongoing studies will be needed to identify the best approaches for high-dose immunosuppressive therapies for MS and plan the next clinical studies."

The authors of an accompanying editorial say the research indicates this type of therapy has potential to work on patients who do not experience disease remission with medications alone, such as immunosuppressive drugs and anti-inflammatory drugs such as corticosteroids.

However, they add that "the jury is still out regarding the appropriateness and indication" of stem cell transplants for MS patients. Stem cell therapy is not approved by the U.S. Food and Drug Administration for the treatment of MS. The National Multiple Sclerosis Society currently funds 15 research projects on stem cell therapies that have the potential to prevent disease activity and repair nerve damage.

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Stem cell transplant may help patients with MS

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Stem Cell Therapy for MS Shows Promise

Dennis Thompson HealthDay Reporter Posted: Tuesday, December 30, 2014, 4:00 AM

(HealthDay News) -- An experimental therapy that kills off and then "resets" the immune system has given three years of remission to a small group of multiple sclerosis patients, researchers say.

About eight in 10 patients given this treatment had no new adverse events after three years. And nine in 10 experienced no progression or relapse in their MS, said lead author Dr. Richard Nash of the Colorado Blood Cancer Institute at Presbyterian/St. Luke's Medical Center in Denver.

"I think we all think of this as a viable therapy," Nash said. "We still need to perform a randomized clinical trial, but we're all pretty impressed so far, in terms of what we've seen."

In multiple sclerosis, the body's immune system for some unknown reason attacks the nervous system, in particular targeting the insulating sheath that covers the nerve fibers, according to the U.S. National Institutes of Health. People with the more common form, called relapsing-remitting MS, have attacks of worsening neurologic function followed by partial or complete recovery periods (remissions).

Over time, as the damage mounts, patients become physically weak, have problems with coordination and balance, and suffer from thinking and memory problems.

This new therapy seeks to reset the immune system by killing it off using high-dose chemotherapy, then restarting it using the patient's own blood stem cells. Doctors harvest and preserve the patient's stem cells before treatment, and re-implant them following chemotherapy.

"Because many of the immune cells are being killed off, there's an immune reset following the treatment," Nash said.

Nash and his colleagues came up with the idea based on similar treatment that blood cancer patients receive. "We knew what a profound effect the high-dose therapy and transplant could have on the immune systems of patients with lymphoma and myeloma," he said.

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Stem Cell Therapy for MS Shows Promise

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Year of birth significantly changes impact of obesity-associated gene variant

Lack of impact in those born before 1942 suggest effect of broad environmental changes

Investigators working to unravel the impact of genetics versus environment on traits such as obesity may also need to consider a new factor: when individuals were born. In the current issue of PNAS Early Edition a multi-institutional research team reports finding that the impact of a variant in the FTO gene that previous research has linked to obesity risk largely depends on birth year, with no correlation between gene variant and obesity in study participants born in earlier years and a far stronger correlation than previously reported for those born in later years.

"Looking at participants in the Framingham Heart Study, we found that the correlation between the best known obesity-associated gene variant and body mass index increased significantly as the year of birth of participants increased," says James Niels Rosenquist, MD, PhD, of the Massachusetts General Hospital (MGH) Department of Psychiatry, lead author of the report. "These results -- to our knowledge the first of their kind -- suggest that this and perhaps other correlations between gene variants and physical traits may very significantly depending on when individuals were born, even for those born into the same families."

The authors note that most studies of interactions between genes and the environment have looked at differences within specific birth cohorts -- groups born during a particular span of years -- which would not account for changes in the larger environment that take place over time. To investigate whether different conditions experienced by different age groups might alter the impact of a gene variant, they analyzed data from participants in the Framingham Offspring Study -- which follows the children of participants in the original study -- gathered between 1971, when participants ranged in age from 27 to 63, and 2008.

Looking at the relationships between participants' body mass index (BMI), as measured eight times during the study period, the FTO variants they had inherited and when they were born revealed that the previously reported association between a specific FTO variant and BMI was seen, on average, only in participants born in later years. While there was no correlation between the obesity-risk variant and BMI for those born before 1942, in participants born after 1942 the correlation was twice as strong as reported in previous studies. While this study was not able to identify the environmental differences that combine with FTO variant to increase the risk of obesity, the authors note that post-World War II factors such as increased reliance on technology rather than physical labor and the availability of high-calorie processed foods are likely contributors.

"We know that environment plays a huge role in the expression of genes, and the fact that our effect can be seen even among siblings born during different years implies that global environmental factors such as trends in food products and workplace activity, not just those found within families, may impact genetic traits," says Rosenquist, an instructor in Psychiatry at Harvard Medical School. "Our results underscore the importance of interpreting any genetic studies with a grain of salt and leave open the possibility that new genetic risk factors may be seen in the future due to different genetically-driven responses to our ever-changing environment."

###

Co-authors of the PNAS Early Edition report are Nicholas Christakis, MD, PhD, MPH, Yale University; Jordan Smoller, MD, ScD, MGH Psychiatry; Steven Lehrer, PhD, Queen's University, Kingston, Ontario; James O'Malley, PhD, Dartmouth College; and Alan Zaslavsky, PhD, Harvard Medical School. Support for the study includes National Institute of Health grant P01-AG031093 and contract N02-HL-64278.

Massachusetts General Hospital, founded in 1811, is the original and largest teaching hospital of Harvard Medical School. The MGH conducts the largest hospital-based research program in the United States, with an annual research budget of more than $785 million and major research centers in HIV/AIDS, cardiovascular research, cancer, computational and integrative biology, cutaneous biology, human genetics, medical imaging, neurodegenerative disorders, regenerative medicine, reproductive biology, systems biology, transplantation biology and photomedicine.

Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.

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Year of birth significantly changes impact of obesity-associated gene variant

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Will 'Fat Gene' Get You? Birth Year May Matter

A gene that's been shown to strongly influence obesity can help make people fatterbut only if they were born after 1942, a new study shows.

The findings bolster evidence that environmental or lifestyle changes could be impacting our health. They also show that while people have genes shaping all sorts of traits, these genes may only be activated under certain conditions. In this case, that environment might be a modern lifestyle, with cars, TV and fast food.

The gene is called FTO, and about 20 percent of white people have a variant of the gene that raises their risk of obesity. The links are clear and widely accepted by scientists. In 2007, British scientists found that people who carry two copies of this variation of the FTO gene weighed, on average, seven pounds more than people who lack it.

In the new study, researchers examined whether time affected the gene's influence.

They used the Framingham Heart Study, a giant, ongoing study of more than 10,000 people who fill out questionnaires and get medical exams every few years. About three-quarters of them also have had their DNA sequenced and, consequently, it's known which version of the FTO gene they have.

As might be expected, just about everyone gained weight as he or she got older.

"People born in the early 1940s or before had no increased risk for higher body mass index or obesity."

"What we wanted to see was whether there was a difference for people born in the earlier part of the cohort, during the 1920s, (when compared to) to people born in the later part if the cohort, in the 1940s and 1950s," said Dr. James Niels Rosenquist of the Massachusetts General Hospital, who led the study.

There was.

"People born in the early 1940s or before had no increased risk for higher body mass index or obesity" if they had the "bad" version of FTO, Rosenquist told NBC News.

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Will 'Fat Gene' Get You? Birth Year May Matter

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Genetic Engineering – A Technology of Corporate Control – Video


Genetic Engineering - A Technology of Corporate Control
Mike Bernhard interviews Mary Jo Long, who had just returned from the 7th Annual Biodevastation Conference.

By: OVOCVideos

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Genetic Engineering - A Technology of Corporate Control - Video

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Sum and Product Rule in Genetics (Part II) – Video


Sum and Product Rule in Genetics (Part II)
https://www.facebook.com/aklectures The website organizes the videos into clear and structured chapters that you can use to watch the videos in sequential an...

By: AK LECTURES

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Sum and Product Rule in Genetics (Part II) - Video

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Sum and Product Rule in Genetics – Video


Sum and Product Rule in Genetics
https://www.facebook.com/aklectures The website organizes the videos into clear and structured chapters that you can use to watch the videos in sequential an...

By: AK LECTURES

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Sum and Product Rule in Genetics - Video

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Genetics of ADHD – Video


Genetics of ADHD
An introduction to the genetics of ADHD by Professor Max Muenke. Medical Home Symposium, Riyadh, Saudi Arabia, 2009.

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Genetics of ADHD - Video

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Atossa Genetics (ATOS) Stock Declines Today on Heavy Trading Volume

NEW YORK (TheStreet) -- Shares of Atossa Genetics (ATOS) are down 8.5% to $1.72 on heavy trading volume after thehealthcare company, focused on the development and marketing of cellular and molecular diagnostic risk assessment products for breast cancer, was said to faceliquidity issues, according to MarketsEmerging.com.

The site noted that in its latest 10-Q, Atossa states that it has sufficient resources to fund operations potentially only through Q1. "On a dubious note," Markets Emerging said, "the firm has apparently hired BDO USA as its accountant. BDO covered Robert Allen Stanford's $7B Ponzi scheme."

The company's stock had jumped31.5% perhaps, Markets Emerging continued, on an optimistic report issuedby Zacks Investment Research, after the company announced on December 19 that its subsidiary in Seattle, WA had begun pharmacogenetics testing as a service to physicians to assist them in prescribing drugs.

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Atossa Genetics (ATOS) Stock Declines Today on Heavy Trading Volume

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2014 in Biomedicine: Rewriting DNA, Decoding the Brain, and a GMO Paradox

The year in biotechnology began with a landmark event. A decade after the first human genome was decoded at a cost of about $3 billion, the sequencing-machine company Illumina, of San Diego, introduced a new model, the Hyseq X-10, that can do it for around $1,000 per genome.

The system, which costs $10 million and can decode 20,000 genomes a year, was snapped up by large research labs, startup firms like J. Craig Venters Human Longevity (which plans to sequence 40,000 people a year), and even by the British government (the U.K. is the first country with a national genome sequencing project).

Francis de Souza, Illuminas president, predicted that within two years the genomes of about 1.6 million people will have been sequenced.

Cheap sequencing means a deluge of information and a new role for technology designed to handle and exploit big data. The search giant Google was the tech company most attuned to the trend, launching a scientific project to collect biological data about healthy humans, and offering to store any genome on its servers for $25 per year. A coalition of genetics researchers backed by Google tried to introduce technical standards, like those that govern the Web, as a way of organizing an Internet of DNA over which researchers might share data.

Easy access to DNA information led to debates over how much consumers should know. The U.S. Food and Drug Administration has said direct-to-consumer genetic health tests arent yet ready to be marketed. But consumers found ways to get the data anyway. Thousands of people headed to unregulated corners of the Internet to learn about their genes, and one father even managed to sequence the DNA of his own unborn son, claiming a controversial first.

Easily the hottest technology of the year was a new gene-engineering method called CRISPR, a powerful new editing system for DNA. Chinese scientists used it to produce genetically altered monkeys in January, and other scientists are now expected to create monkeys that model human psychiatric diseases. One measure of the technologys importance is that scientists are now fighting over who really invented it firstand who should own the patent on it.

During the year, bioengineers advanced on all fronts using other technologies. We saw novel kinds of cell therapy used to treat degenerative eye diseases, positive results from a study of gene therapy that could cure HIV, and the resurgence of a form of gene therapy called RNA interference. The development of replacement organs took steps forward, too, including new research showing how to add blood vessels to lab-made tissue using a 3-D printer.

This year, 10 of 35 new drugs approved by the FDA were biological molecules, like antibodies or protein injections. That was a record. And the FDA says the list of new drugs entering testing for the first time is dominated by biological treatments.

Those biotech drugs include the most important medical breakthroughs of the year, a new class of cancer drugs called immunotherapies. The drug company Merck has been testing an antibody that helps the immune system recognize melanoma cancer cellswith near miraculous results for some patients. The other approach to immune therapy involves rengineering a persons white blood cellsto recognize and kill certain kinds of leukemia tumors.

Bioengineering doesnt stop at DNA. The U.S. BRAIN Initiative, President Obamas signature science project, has the aim of developing emerging neurotechnologies for measuring the brain and eventually figuring out the neural code. The broad approach of the U.S. project contrasts with that taken in Europe, where funding has been directed toward one mega-project to create computer simulations of the brain, something that drew sharp fire from dissenting neuroscientists.

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2014 in Biomedicine: Rewriting DNA, Decoding the Brain, and a GMO Paradox

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Why 2014 has been a breakthrough year for gene therapy

Rhys Evans life could have been very different.

He could have been a bubble boy, forced to walk around in a protective see-through plastic canopy. You see, he was born with an immune system that barely worked. The slightest infection could have proved fatal. But Rhys is now 14years old and doing fine.

So how did Rhys avoid living in a bubble?

The simple answer is that Rhys got lucky his condition was diagnosed when he was a baby. Even more fortunately, doctors at Great Ormond Street Hospital were able to do something about it. They understood that Rhyss condition was caused by a genetic flaw and they thought that if they could correct this flaw then they could restore his immune system. That is exactly what happened, and why Rhys is now no different to any other young teenager.

Rhyss treatment is an example of gene therapy, which was the subject of a fascinating lecture that I attended last month. Leonard Seymour, professor of gene therapies in the Department of Oncology at Oxford University, gave four reasons why 2014 has been a breakthrough year for this revolutionary, but controversial, approach.

Let me begin by describing these successful trials.

Rhys Evans is not the only boy (it does not affect girls) to have received gene therapy for this syndrome 20 were given it at about the same time as Rhys. But he was lucky. In the trial, one in four ended up with leukaemia.

This year has seen the results of a new trial. In this, nine boys were treated and eight have been reported as still alive, 16 to 43 months after treatment. The ninth died from an infection already present when he began the gene therapy. Overall, the outcome is hugely promising and suggests that gene therapy could provide a permanent cure for patients who would otherwise receive a bone marrow transplant from a donor, with all the consequent risks of rejection.

HIV is a virus that weakens the immune system by destroying the white blood cells that fight disease and infection. In order to destroy the cells it has to enter them, and it does this via a protein called CCR5, found on the cell surface. Researchers have noticed that about 1% of patients contract HIV and yet come to no harm. The reason is that their cells have a rare genetic mutation which prevents them from displaying the CCR5 protein on their surface.

Now researchers have managed to engineer white blood cells so that they have this same rare mutation. They have injected billions of these genetically modified cells into 12 trial patients, and there is evidence that this procedure is safe and could suppress the virus.

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Why 2014 has been a breakthrough year for gene therapy

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Report on remission in patients with MS three years after stem cell transplant

Three years after a small number of patients with multiple sclerosis (MS) were treated with high-dose immunosuppressive therapy (HDIT) and then transplanted with their own hematopoietic stem cells, most of the patients sustained remission of active relapsing-remitting MS (RRMS) and had improvements in neurological function, according to a study published online by JAMA Neurology.

MS is a degenerative disease and most patients with RRMS who received disease-modifying therapies experience breakthrough disease. Autologous (using a patient's own cells) hematopoietic cell transplant (HCT) has been studied in MS with the goal of removing disease-causing immune cells and resetting the immune system, according to the study background.

The Hematopoietic Cell Transplantation for Relapsing-Remitting Multiple Sclerosis (HALT-MS) study examines the effectiveness of early intervention with HDIT/HCT for patients with RRMS and breakthrough disease. The article by Richard A. Nash, M.D., of the Colorado Blood Cancer Institute at Presbyterian/St. Luke's Medical Center, Denver, and coauthors reports on the safety, efficacy and sustainability of MS disease stabilization though three years after the procedures. Patients were evaluated through five years.

Study results indicate that of the 24 patients who received HDIT/HCT, the overall rate of event-free survival was 78.4 percent at three years, which was defined as survival without death or disease from a loss of neurologic function, clinical relapse or new lesions observed on imaging. Progression-free survival and clinical relapse-free survival were 90.9 percent and 86.3 percent, respectively, at three years. The authors note that adverse events were consistent with the expected toxic effect of HDIT/HCT and that no acute treatment-related neurologic adverse events were seen. Improvements in neurologic disability, quality-of-life and functional scores also were noted.

"In the present study, HDIT/HCT induced remission of MS disease activity up to three years in most participants. It may therefore represent a potential therapeutic option for patients with MS in whom conventional immunotherapy fails, as well as for other severe immune-mediated diseases of the central nervous system. Most early toxic effects were hematologic and gastrointestinal and were expected and reversible. Longer follow-up is needed to determine the durability of the response," the authors conclude.

Editorial: Moving Targets for Stem Cell Transplantation for Patients with MS

In a related editorial, M. Mateo Paz Soldn, M.D., Ph.D., of the University of Utah, Salt Lake City, and Brian G. Weinshenker, M.D., of the Mayo Clinic, Rochester, Minn., write: "This study and another phase 2 single-arm study leave little doubt that high-dose immunotherapy is able to substantially suppress inflammatory disease activity in patients with MS who have active disease in the short term. There is some evidence for long-term suppression of MS. Lessons have been learned about how treatment-related morbidity and mortality may be reduced. However, deaths have occurred, even in small studies, and aggressive regimens have resulted in lymphomas associated with Epstein-Barr virus."

"Nash et al show evidence of prolonged depletion of memory CD4+ cells, depletion of CD4+-dominant T-cell receptor clones and evidence of 'immune reset'; however, clinical or radiologic evidence of relapse trumps immunologic evidence of immune reset, and this study raises concern that those end points have not been adequately achieved. The jury is still out regarding the appropriateness and indication of HCT for MS," the authors conclude.

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The above story is based on materials provided by The JAMA Network Journals. Note: Materials may be edited for content and length.

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Report on remission in patients with MS three years after stem cell transplant

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Reprogramming stem cells may prevent cancer after radiation

The body has evolved ways to get rid of faulty stem cells. A University of Colorado Cancer Center study published in the journal Stem Cells shows that one of these ways is a "program" that makes stem cells damaged by radiation differentiate into other cells that can no longer survive forever. Radiation makes a stem cell lose its "stemness." That makes sense: you don't want damaged stem cells sticking around to crank out damaged cells.

The study also shows that this same safeguard of "programmed mediocrity" that weeds out stem cells damaged by radiation allows blood cancers to grow in cases when the full body is irradiated. And by reprogramming this safeguard, we may be able to prevent cancer in the aftermath of full body radiation.

"The body didn't evolve to deal with leaking nuclear reactors and CT scans. It evolved to deal with only a few cells at a time receiving dangerous doses of radiation or other insults to their DNA," says James DeGregori, PhD, investigator at the CU Cancer Center, professor of Biochemistry and Molecular Genetics at the CU School of Medicine, and the paper's senior author.

DeGregori, doctoral student Courtney Fleenor, and colleagues explored the effects of full body radiation on the blood stem cells of mice. In this case, radiation increased the probability that cells in the hematopoietic stem cell system would differentiate. Only, while most followed this instruction, a few did not. Stem cells with a very specific mutation were able to disobey the instruction to differentiate and retain their "stemness." Genetic inhibition of the gene C/EBPA allowed a few stem cells to keep the ability to act as stem cells. With competition from other, healthy stem cells removed, the stem cells with reduced C/EBPA were able to dominate the blood cell production system. In this way, the blood system transitioned from C/EBPA+ cells to primarily C/EBPA- cells.

Mutations and other genetic alterations resulting in inhibition of the C/EBPA gene are associated with acute myeloid leukemia in humans. Thus, it's not mutations caused by radiation but a blood system reengineered by faulty stem cells that creates cancer risk in people who have experienced radiation.

"It's about evolution driven by natural selection," DeGregori says. "In a healthy blood system, healthy stem cells out-compete stem cells that happen to have the C/EBPA mutation. But when radiation reduces the heath and robustness (what we call 'fitness') of the stem cell population, the mutated cells that have been there all along are suddenly given the opportunity to take over."

Think about it in terms of chipmunks and squirrels: reducing an ecosystem's population of chipmunks may allow squirrels to flourish -- especially if the way in which chipmunks are reduced changes the ecosystem to favor squirrels, similar to how radiation changes the body in a way that favors C/EBPA-mutant stem cells).

These studies don't just tell us why radiation makes hematopoietic stem cells (HSCs) differentiate; they also show that by activating a stem cell maintenance pathway, we can keep it from happening. Even months after irradiation, artificially activating the NOTCH signaling pathway of irradiated HSCs lets them act "stemmy" again -- restarting the blood cell assembly line in these HSCs that would have otherwise differentiated in response to radiation.

When DeGregori, Fleenor and colleagues activated NOTCH in previously irradiated HSCs, it kept the population of dangerous, C/EBPA cells at bay. Competition from non-C/EBPA-mutant stem cells, with their fitness restored by NOTCH activation, meant that there was no evolutionary space for C/EBPA-mutant stem cells.

"If I were working in a situation in which I was likely to experience full-body radiation, I would freeze a bunch of my HSCs," DeGregori says, explaining that an infusion of healthy HSCs after radiation exposure would likely allow the healthy blood system to out-compete the radiation-exposed HSC with their "programmed mediocrity" (increased differentiation) and even HSC with cancer-causing mutations. "But there's also hope that in the future, we could offer drugs that would restore the fitness of stem cells left over after radiation."

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Reprogramming stem cells may prevent cancer after radiation

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More about Gordie Howe’s therapy

Stem cells grown under low oxygen. These stem cells from Stemedica are licensed to CardioCell.

Dr. David Gorski, a prominent skeptic of therapies offered outside the scientifically controlled clinical trial system, has published an extensive and critical look at the stem cell therapy Gordie Howe received in early December to help him recover from a serious stroke.

I had email exchanges with Gorski while writing my article last week on the treatment, which uses stem cells provided by San Diego-based Stemedica. Gorski, whose previous blog post at Science-Based Medicine on Howe's treatment caught my attention, follows through with an analysis of the clinical trial setup used by Novastem, a Mexican stem cell company licensed by Stemedica to use its cells.

Dr. Murray Howe and his hockey great father, Gordie Howe, on a fishing trip in Saskatchewan in 2013. / Courtesy Murray Howe

"As sympathetic as I am to the Howe family, Im sorry. I reluctantly have to say that Murray Howe really should know better," Gorski wrote. "If Gordie Howe was treated as part of a clinical trial, then Novastem should have treated him for free! Thats because if it is running a clinical trial, it should treat everyone on the trial for free. Thats the way its done ethically."

I asked Novastem president Rafael Carrillo about the financial issue for my article. Carrillo said Novastem doesn't have deep pockets like a big pharmaceutical company, so it needs to charge for the treatment to pay its expenses. Without that money, it can't afford the trial. Patients wouldn't get the opportunity to get care that could help them, Carrillo said. Moreover, this arrangement is legal under Mexican law.

Gorksi views this as unethical, even if it's legal. He objects to the free treatment given to Gordie Howe, because it amounts to publicity for Novastem that will attract paying customers. And even if Howe is doing better, as appears to be the case, it's not possible to tell definitively whether stem cells helped.

The U.S. system has its own flaws, Gorski says, because patient expenses not related to the clinical trial are not paid for.

"Patients who dont have health insurance will often have a huge difficulty paying for their care not related to the clinical trial and thus will have difficulties accessing cutting-edge clinical trials because they cant pay for their own regular care," Gorski wrote. "Yay, USA!"

Stemedica is offering its own U.S. trial of the therapy, but people must have had the stroke at least six months ago. That's because people make the most improvement within six months after a stroke. So delaying treatment until after that point will make it easier to detect improvement caused by the stem cell treatment.

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More about Gordie Howe's therapy

Recommendation and review posted by simmons

News & Events

NIH-funded study yields encouraging early results

Three-year outcomes from an ongoing clinical trial suggest that high-dose immunosuppressive therapy followed by transplantation of a person's own blood-forming stem cells may induce sustained remission in some people with relapsing-remitting multiple sclerosis (RRMS). RRMS is the most common form of MS, a progressive autoimmune disease in which the immune system attacks the brain and spinal cord. The trial is funded by the National Institute of Allergy and Infectious Diseases (NIAID), part of the National Institutes of Health, and conducted by the NIAID-funded Immune Tolerance Network (ITN) .

Three years after the treatment, called high-dose immunosuppressive therapy and autologous hematopoietic cell transplant or HDIT/HCT, nearly 80 percent of trial participants had survived without experiencing an increase in disability, a relapse of MS symptoms or new brain lesions. Investigators observed few serious early complications or unexpected side effects, although many participants experienced expected side effects of high-dose immunosuppression, including infections and gastrointestinal problems. The three-year findings are published in the Dec. 29, 2014, online issue of JAMA Neurology.

These promising results support the need for future studies to further evaluate the benefits and risks of HDIT/HCT and directly compare this treatment strategy to current MS therapies, said NIAID Director Anthony S. Fauci, M.D. If the findings from this study are confirmed, HDIT/HCT may become a potential therapeutic option for people with this often-debilitating disease, particularly those who have not been helped by standard treatments.

Scientists estimate that MS affects more than 2.3 million people worldwide. Symptoms can vary widely and may include disturbances in speech, vision and movement. Most people with MS are diagnosed with RRMS, which is characterized by periods of relapse or flare up of symptoms followed by periods of recovery or remission. Over years, the disease can worsen and shift to a more progressive form.

In the study, researchers tested the effectiveness of HDIT/HCT in 25 volunteers with RRMS who had relapsed and experienced worsened neurological disability while taking standard medications. Doctors collected blood-forming stem cells from participants and then gave them high-dose chemotherapy to destroy their immune systems. The doctors returned the stem cells to the participants to rebuild and reset their immune systems.

Notably, participants did not receive any MS drugs after transplant, yet most remained in remission after three years, said Daniel Rotrosen, M.D., director of NIAIDs Division of Allergy, Immunology and Transplantation. In contrast, other studies have shown that the best alternative MS treatments induce much shorter remissions and require long-term use of immunosuppressive drugs that can cause serious side effects.

The study researchers plan to follow participants for a total of five years, recording all side effects associated with the treatment. Final results from this and similar studies promise to help inform the design of larger trials to further evaluate HDIT/HCT in people with MS.

The work was sponsored by NIAID, NIH, and conducted by the ITN (contract number N01 AI015416) and NIAID-funded statistical and clinical coordinating centers (contract numbers HHSN272200800029C and HHSN272200900057C). The ClinicalTrials.gov identifier for the study High-Dose Immunosuppression and Autologous Transplantation for Multiple Sclerosis (HALT-MS) is NCT00288626.

NIAID conducts and supports research at NIH, throughout the United States, and worldwide to study the causes of infectious and immune-mediated diseases, and to develop better means of preventing, diagnosing and treating these illnesses. News releases, fact sheets and other NIAID-related materials are available on the NIAID Web site at http://www.niaid.nih.gov.

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News & Events

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Mrs.Paramjit (Quadriplegic) speaking at Sai Aasra’s Seminar – Video


Mrs.Paramjit (Quadriplegic) speaking at Sai Aasra #39;s Seminar
A very Motivating Heart touching speech by Mrs.Paramjit who is a quadriplegic who shares her experiences on spinal cord injury on the launch of Sai Aasra Paraplegic Rehab Centre.

By: Sai Aasra

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Mrs.Paramjit (Quadriplegic) speaking at Sai Aasra's Seminar - Video

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More about Gordie Howe's therapy

Stem cells grown under low oxygen. These stem cells from Stemedica are licensed to CardioCell.

Dr. David Gorski, a prominent skeptic of therapies offered outside the scientifically controlled clinical trial system, has published an extensive and critical look at the stem cell therapy Gordie Howe received in early December to help him recover from a serious stroke.

I had email exchanges with Gorski while writing my article last week on the treatment, using stem cells provided by San Diego-based Stemedica. Gorski, whose previous blog post at Science Based Medicine on Howe's treatment caught my attention, follows through with an analysis of the clinical trial setup used by Novastem, a Mexican stem cell company licensed by Stemedica to use its cells.

"As sympathetic as I am to the Howe family, Im sorry. I reluctantly have to say that Murray Howe really should know better," Gorski wrote. "If Gordie Howe was treated as part of a clinical trial, then Novastem should have treated him for free! Thats because if it is running a clinical trial, it should treat everyone on the trial for free. Thats the way its done ethically."

I asked Novastem president Rafael Carrillo, about that issue. Carrillo said Novastem doesn't have deep pockets like a big pharmaceutical company, so it needs to charge for the treatment to pay its expenses. Without that money, it can't afford the trial. Patients wouldn't get the opportunity to get care that could help them. Moreover, this arrangement is legal under Mexican law.

Gorksi views this as unethical, even if legal. He objects to the free treatment given to Gordie Howe, because it amounts to publicity for Novastem that will attract paying customers. And even if Howe is doing better, as appears to be the case, it's not possible to tell whether stem cells helped.

The U.S. system has its own flaws, Gorski says, because patient expenses not related to the clinical trial, such as health insurance, are not paid for.

"Patients who dont have health insurance will often have a huge difficulty paying for their care not related to the clinical trial and thus will have difficulties accessing cutting-edge clinical trials because they cant pay for their own regular care," Gorski wrote. "Yay, USA!"

Stemedica is offering its own U.S. trial of the therapy, but people must have had the stroke at least six months ago. That's because people make the most improvement within six months after a stroke. So delaying treatment until after that point will make it easier to detect improvement caused by the stem cell treatment.

Understandably, this requirement to help make the trial scientifically valid frustrates a number of patients who want to be treated as soon as possible. The general rule with stroke is the sooner therapy is provided, the better. So presumably, if the stem cell therapy is effective at all, earlier administration would be even more effective. That's the calculation many people will make, and it's at odds with the American clinical trial protocol.

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More about Gordie Howe's therapy

Recommendation and review posted by Bethany Smith

Las Vegas Pain Management Clinic, Nevada Pain, Now Offering Over Ten Effective Treatments for Knee Arthritis with …

Las Vegas, Nevada (PRWEB) December 29, 2014

Top Las Vegas pain management clinic, Nevada Pain, is now providing over ten effective knee arthritis treatments. New treatments include regenerative medicine therapies such as PRP and stem cell therapy. Call (702) 323-0553 for more information and scheduling.

Knee arthritis affects tens of millions of Americans, often leading to significant disability. This may make it difficult to participate in recreational activities or play with one's kids or grandkids. While a total joint replacement typically has excellent outcomes, there are potential serious complications. Therefore, the procedure should be avoided or delayed until all other options have been attempted.

Nevada Pain offers the latest, cutting edge options for knee arthritis relief. This includes platelet rich plasma therapy, known as PRP therapy, along with stem cell therapy. The stem cell therapy is offered with either bone marrow derived stem cells or amniotic derived stem cells.

Additional treatments for knee arthritis include cortisone injections, which have been a gold standard for decades. They may provide months of consistent pain relief. Hyaluronic acid injections into the arthritic knee have been shown to offer six to twelve months of pain relief to most individuals.

Knee bracing is also offered along with TENS units, physical rehabilitation, pain medications and topical pain creams. Success rates are impressive for achieving pain relief and avoiding knee surgery.

Along with treating knee arthritis pain, Nevada Pain offers therapies for all types of back and neck pain, sciatica, scoliosis, neuropathy, RSD, spinal stenosis and much more. Treatment is offered by Board Certified, Award Winning providers.

Most insurance is accepted and there are multiple locations in the greater Las Vegas area. Call (702) 323-0553 for more information and scheduling.

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Las Vegas Pain Management Clinic, Nevada Pain, Now Offering Over Ten Effective Treatments for Knee Arthritis with ...

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Alzheimer’s & Dementia Causes, Risk Factors | Research …

What We Know Today About Alzheimer's Disease

The Search for Alzheimers Causes and Risk Factors

While scientists know Alzheimer's disease involves progressive brain cell failure, the reason cells fail isn't clear. Like other chronic conditions, experts believe that Alzheimer's develops as a complex result of multiple factors rather than any one overriding cause. Both age and genetics have been identified as risk factors, but many questions still remain. The discovery of additional risk factors will deepen our understanding of why Alzheimer's develops in some people and not others.

Although Alzheimer's is not a normal part of growing older, the greatest risk factor for the disease is increasing age. After age 65, the risk of Alzheimer's doubles every five years. After age 85, the risk reaches nearly 50 percent.

Another Alzheimer's risk factor is family history. Research has shown that those who have a parent, brother, sister or child with Alzheimer's are more likely to develop the disease. The risk increases if more than one family member has the illness. When diseases tend to run in families, either heredity (genetics) or environmental factors or both may play a role.

There are two categories of genes that influence whether a person develops a disease: (1) risk genes and (2) deterministic genes. Researchers have identified Alzheimer's genes in both categories.

Everyone inherits a copy of some form of APOE from each parent. Those who inherit one copy of APOE-e4 have an increased risk of developing Alzheimer's. Those who inherit two copies have an even higher risk, but not a certainty. In addition to raising risk, APOE-e4 may tend to make symptoms appear at a younger age than usual. Scientists estimate that APOE-e4 is implicated in about 20 percent to 25 percent of Alzheimer's cases.

In 2003, the Alzheimer's Association partnered with the National Institute on Aging to begin recruiting participants for the National Alzheimer's Disease Genetics Study, a federal initiative to collect and bank blood samples from families with several members who developed Alzheimer's disease late in life. The goal is to identify additional Alzheimer's risk genes. The study continues to seek participants.

Although the genes that cause "familial Alzheimer's" are rare, their discovery has provided important clues that help our understanding of Alzheimer's. All of these genes affect processing or production of beta-amyloid, the protein fragment that is the main component of plaques. Beta-amyloid is a prime suspect in decline and death of brain cells. Several drugs now in development target beta-amyloid as a potential strategy to stop Alzheimer's disease or significantly slow its progression.

Two international investigations are under way to gain further insight into Alzheimer's disease by studying individuals with deterministic Alzheimer's genes: (1) The Dominantly Inherited Alzheimer Network (DIAN), funded by the National Institute on Aging (NIA), includes 10 flagship research centers in the United States, the United Kingdom and Australia. (2) The Alzheimer's Prevention Initiative (API) focuses on an extended family in Antioquia, Colombia, in South America. At 5,000 members, this is the world's largest family in which a gene that causes Alzheimer's has been identified. API collaborators include DIAN. Learn more on our Treatment Horizon page.

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Alzheimer's & Dementia Causes, Risk Factors | Research ...

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Edgar Cayce’ s A.R.E. Ancient America and Genetic DNA Research

Modern Genetic Research Confirming Cayces Story This section adapted from Mound Builders: Edgar Cayce's Forgotten Record of Ancient America by Gregory L. Little, PhD.

Edgar Cayce mentioned ancient America in 68 different readings. These readings covered migrations to America, mound builders, the Norse, and other events. In Mound Builders: Edgar Cayces Forgotten History of Ancient America (2001), his 68 readings on ancient America were extensively analyzed. From these readings, 30 specific statements were found which could be verified by scientific evidence. Of the 30 statements by Cayce, 23 (or 77%) of them have enough support to be considered accurate. Another six statements are, as yet, not supportable by evidence, but could be verified in the future. Only one statement appears to be wrong. Thus, of all of Cayces seemingly impossible statements about ancient America, only 3% are definitely wrong. Of the remainder, 77% have been supported by scientific research, and the 20% that remain could be verified in the future.

Several teams of genetics researchers at prominent American universities have been conducting studies on the DNA of Native Americans. Although results from early studies showed the expected Siberian-Asian ancestry of the majority of modem Native American tribes, things took an unexpected turn in 1997 when it was found that a small percentage of modem Native Americans have an unusual type of DNA then known to exist only in a few locations in Europe and the Middle East. Subsequent research indicated that the European DNA was not the result of genetic mixing after Columbus, as the same DNA was found in the bone of an ancient American burial, confirming that people carrying this unique DNA had entered America in ancient times. This unique gene was also found in a small tribe living in the northern Gobi Desert area. The DNA research initially seemed to promise solid proof of not only where the ancient Americans came from, but also when they came.

As might be expected, ancient DNA research has become a highly contentious issue with several competing sides. Most of the DNA research on Native American Indians has been done utilizing mitochondria. Every cell in our body contains hundreds to thousands of these tiny, football-shaped organelles. The mitochondria process glucose (sugar) into a usable form of energy for all of our bodys functions and are believed to be an evolutional form of bacteria that adapted into a symbiotic relationship with multi-celled life forms. The mitochondria have their own unique DNA, which is simpler and easier to analyze than the human DNA found in the nucleus. Mitochondrial DNA (usually abbreviated as mtDNA) is passed to offspring only through the woman's egg. Thus, it is not a combination of male and female genes but a haploid gene, meaning that it has only one dose of chromosomes.

Mitochondrial DNA The haploid mitochondrial DNA shows only the female lineage of a person. Diploid genes are two sets of combined chromosomes, the female set coming from the egg, the male chromosomes from the sperm. Mitochondrial DNA (mtDNA) is categorized into several types and groups termed haplotypes and haplogroups. That is, there are variations in the genetic cycle of mitochondria that fit into clusters. These clusters can trace lineage far back into time. There are 39 different, distinct mtDNA groups into which all humans fit and there are variations on these types. While mtDNA analysis is not only easier than other forms of genetic testing, it has a further advantage. While all DNA mutates over time, mtDNA has a fairly steady rate of mutation that permits a reasonably accurate estimate of exactly when a particular group of people migrated from their primary group.

Two important factors can be determined through analysis of mtDNA. First, a living person or the mtDNA from the remains of a deceased person can be tested to determine the specific racial group from which the individual came. Second, the approximate time when that individuals ancestors migrated from their primary racial group can be determined.

One way to view mtDNA testing is that it may be able to provide a racial family tree extending back to the beginning of humanity. The current idea in mtDNA analysis on the female side can eventually be traced back to a genetic "Eve." The 39 types of mtDNA were presumably derived from this Eve. Whether this idea will be completely confirmed by research remains to be seen. Testing to date has confirmed several oral traditions passed down through many generations in several tribes. For example, the indigenous people of Hawaii and Polynesia have long asserted that their ancestors frequently traveled back and forth. Genetic testing showed that these two groups were related and confirmed the migratory legends of these peoples.

Confirming the Siberian Migration The first research on living Native American tribes showed they were composed of four distinct mtDNA haplogroups called A, B, C, and D which means that the Native Americans are derived from four different lineages. These haplogroups were also found in native populations in Central and South America. Other mtDNA research utilizing ancient remains recovered in the Americas validated these four haplogroups. Three of these haplogroups, A, C, and D are found primarily in Siberian Asia. The B haplogroup, however, is found only in aboriginal groups in Southeast Asia, China, Japan, Melanesia, and Polynesia.

Based on the mutations found in the mtDNA, most researchers think that groups A, C and D, entered America from Siberia across Beringia some time around 35.000 B.C. Group B, they assert, probably came to America from the South Pacific or Japan via boats. It is believed the B groups began this migration not long after the A, C, and D groups arrived. However, the majority of the B group arrived about 11,000 B.C. This leaves open the possibility of several migrations by the B group from different locations.

It should be noted that a few geneticists have proposed that each of these haplogroups came in four separate migrations while many Clovis supporters argue that all the groups migrated together.

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Edgar Cayce' s A.R.E. Ancient America and Genetic DNA Research

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Ancient Humans Bred with Completely Unknown Species …

Ancient Origins seeks to uncover, what we believe, is one of the most important pieces of knowledge we can acquire as human beings our beginnings.

While many believe that we already hold such knowledge, our view is that there still exists a multitude of anomalies and mysteries in humanity's past that deserve further examination.

We therefore wish to foster an open community that is dedicated to investigating, understanding and explaining the origins of our species on planet earth. To this end, we aim to organize, support and even finance efforts in this direction.

Our aim is to move beyond theories and to present a thorough examination of current research and evidence and to offer alternative viewpoints and explanations to those currently held by mainstream science and archaeology.

Come with us on a journey to explore lost civilisations, sacred writings, ancient places, unexplained artefacts and scientific mysteries while we seek to reconstruct and retell the story of our beginnings.

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Ancient Humans Bred with Completely Unknown Species ...

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Medical Genetics Branch – National Human Genome Research …

Medical Genetics Branch

The Medical Genetics Branch (MGB) seeks to identify and understand inherited disorders of metabolism and of human development. MGB investigators focus on human genetics, vertebrate embryology, inborn errors of metabolism, and neurogenetic disorders. Projects performed at the biochemical, molecular, and cell biological levels involve the direct study of human subjects as well as the development and use of experimental model systems, such as zebrafish and mouse. The Branch fosters outstanding basic research and serves as a model for translational research, emphasizing the compassionate and scientifically rigorous application of basic science discoveries at the bedside. Branch researchers develop and test new diagnostic tests and treatments for patients with rare genetic disorders in the NIH Clinical Center.

To achieve their goals, MGB investigators use a variety of cutting-edge techniques to address questions regarding disease pathophysiology and human development. In addition to making extensive and selective use of genomic data, MGB researchers routinely capitalize on partnerships with key laboratories at NHGRI, NIH, and worldwide. The Branch attracts patients with rare disorders and engages in collaborations that have led to the acquisition of large sample sets from unique populations. Studies of these rare patients and populations have proven invaluable for advancing the mission of the Branch.

Maximilian Muenke, M.D. Head, Medical Genetics Branch Head, Human Development Section Director, Combined Pediatrics and Medical Genetics Residency Training Program

William A. Gahl, M.D., Ph.D. Senior Investigator, Medical Genetics Branch Clinical Director, NHGRI Director, Undiagnosed Diseases Program Head, Human Biochemical Genetics Section

Ellen Sidransky, M.D. Senior Investigator, Medical Genetics Branch Head, Molecular Neurogenetics Section

Donald W. Hadley, M.D., C.G.C. Associate Investigator, Medical Genetics Branch Deputy Director, NIH Medical Genetics & Genomics Residency and Metropolitan Washington DC Medical Biochemical Genetics Residency

Suzanne Hart, Ph.D. Associate Investigator, Medical Genetics Branch Deputy Director, Medical Genetics Residency and Fellowship Training Programs

Marjan Huizing, Ph.D. Associate Investigator, Medical Genetics Branch Head, Cell Biology of Metabolic Disorders Unit

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Medical Genetics Branch - National Human Genome Research ...

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