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Jurassic Genetics | Second Tech Demo (With Added Stegosaurus!) – Video


Jurassic Genetics | Second Tech Demo (With Added Stegosaurus!)
Dinosaaaaauuuurs! No drama, please. Ta. Much love. Subscribe with this handy dandy link! http://bit.ly/13OT2RF Jurassic Genetics on Facebook https://www.facebook.com/JurasscGenetics...

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Jurassic Genetics | Second Tech Demo (With Added Stegosaurus!) - Video

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Physiotherapie Spinal Cord Injury – Video


Physiotherapie Spinal Cord Injury
The treatment of spinal cord injury patients requires permanent observation and evaluation of the patients to recognize functional recovery immediately in or...

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Scotiabank Half Marathon & 5km Charity Challenge: Spinal Cord Injury – Video


Scotiabank Half Marathon 5km Charity Challenge: Spinal Cord Injury
Michel McDermott talks to Kirsten Sharp, Spinal Cord Injury BC "Walk #39;n Roller" team captain about the importance of the Scotiabank Charity Challenge how i...

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New infertility treatment could grow sperm from skin cells

A study has found that it is possible to convert skin cells into the male germ cells, which are responsible for sperm production in the testes, using an established technique for creating embryonic stem cells using a form of genetic engineering.

The researchers showed that stem cells derived from human skin become active germ cells when transplanted into the testes of mice even when the man suffers from a genetic condition where he lacks functioning germ cells in his own testes.

Creating sperm-producing human cells in laboratory mice will allow scientists to study in more detail the complex sequence of events during the development if the male reproductive tissue, and to understand how these developmental changes can go awry in infertile men.

Our results are the first to offer an experimental model to study sperm development. Therefore, there is potential for applications [such as] cell-based therapies in the clinic, for example, for the generation of higher quality and numbers of sperm in a dish, said Renee Reijo Pera of Montana State University.

It might even be possible to transplant stem cell-derived germ cells directly into the testes of men with problems producing sperm, said Professor Reijo Pera, who led the study published in the journal Cell Reports. However, she emphasised that further research will be needed before clinical trials can be allowed on humans.

Although the mice had functioning human male germ cells, they did not produce human sperm, Dr Reijo Pera said. There is an evolutionary block that means that when germ cells from one species are transferred to another, there is not full spermatogenesis, unless the species are very closely related, she explained.

About one in a hundred men suffer from azoospermia, where they fail to produce measurable quantities of sperm in the semen. The condition is responsible for about 20 per cent of cases of male infertility, which itself accounts for about half of the 10-15 per cent of couples who have difficulty conceiving naturally.

The study involved creating induced pluripotent stem cells by adding key genes to the skin cells of five men three with a form of azoospermia caused by a genetic mutation on the Y chromosome and two with normal fertility. The resulting stem cells were implanted into the testes of laboratory mice where they developed normally into germ cells.

The scientists found that even the stem cells derived from the infertile men were capable to developing into human male germ cells in the mouse testes. However, the stem cells of the men with the Y chromosome mutation produced about 100 times less germ cells than the men with normal fertility, Professor Reijo Pera said.

Studying why this is the case will help us to understand where the problems are for these men and hopefully find ways to overcome them, Professor Reijo Pera said.

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New infertility treatment could grow sperm from skin cells

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Simple Mendelian genetics problem and solution – Video


Simple Mendelian genetics problem and solution
Huntington #39;s disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington #39;s disease has a bro...

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Simple Mendelian genetics problem and solution - Video

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Genetics – Live in Chile (4 de Mayo 2014) – Video


Genetics - Live in Chile (4 de Mayo 2014)
Dancing With The Moonlit Knight Teatro Caupolican Grab: Miguel Sanchez C.

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Are Genetics A Determining Factor In How Fast You Age? – Video


Are Genetics A Determining Factor In How Fast You Age?
One of the biggest misconceptions about aging is that how fast and how well you age are largely determined by genetics. While what your parents gave you will affect tissue degeneration throughout...

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Treating Knee Osteoarthritis with Stem Cells – Dr. Ben Newton | Regenexx – Video


Treating Knee Osteoarthritis with Stem Cells - Dr. Ben Newton | Regenexx
Dr. Ben Newton discusses knee osteoarthritis and the use of stem cells for treating this common condition and avoiding knee replacement surgery. Regenexx off...

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One step closer to cell reprogramming

13 hours ago Cells with activated Wnt can no longer be reprogrammed (in green) are located on the periphery; cells that can be reprogrammed are aggregated anad can be seen in the center of the image (in red) Credit: CRG

In 2012, John B. Gurdon and Shinya Yamakana were awarded the Nobel Prize in medicine for discovering that adult cells can be reprogrammed into pluripotent ones (iPS); the cells obtained are capable of behaving in a similar way to embryonic stem cells, and hence have enormous potential for regenerative medicine.

However, although there are many research groups around the world studying this process, it is still not completely understood, it is not totally efficient, and it is not safe enough to be used as the basis for a new cell therapy.

Now, researchers at the Centre for Genomic Regulation (CRG) in Barcelona have taken a very important step towards understanding cell reprogramming and its efficiency: they have discovered the key role of the Wnt signalling pathway in transforming adult cells into iPS cells.

"Generally, transcription factors are used to try to increase or decrease the cell reprogramming process. We have discovered that we can increase the efficiency of the process by inhibiting the Wnt route", explains Francesco Aulicino, a PhD student in the Reprogramming and Regeneration group, led by Maria Pia Cosma and co-author of the study that has just been published in Stem Cell Reports.

The Wnt signaling pathway is a series of biochemical reactions that are produced in cells. In frogs or lizards, for example, these reactions are those that allow their extremities to regenerate if the animal suffers an injury. Although in general, humans and mammals have lost this regenerative capacity, the Wnt pathway is involved in numerous processes during embryonic development and cell fusion.

As it is in reprogramming. The researchers have studied how the Wnt route behaves throughout the entire process of transforming cells into iPS cells, which usually lasts two weeks. It is a very dynamic process that produces oscillations from the pathway, which is not active all the time. "We have seen that there are two phases and that in each one of them, Wnt fulfils a different function. And we have shown that by inhibiting it at the beginning of the process and activating it at the end we can increase the efficiency of reprogramming and obtain a larger number of pluripotent cells", indicates Ilda Theka, also a PhD student in Pia Cosma's group and a co-author of the article.

To artificially control the pathway, the group has employed a chemical molecule, Iwp2, which is a Wnt secretion inhibitor that does not permanently alter the cells, something which other research into reprogramming using different factors has still has not been able to acheive.

They have also seen that the exact moment when the Wnt pathway is activated is crucial. Doing it too early, makes the the cells begin to differentiate, for example into neurones or endodermal cells, and they are not reprogrammed.

"It is a very important and an innovative advance in the field of cell reprogramming, because until now this was a very inefficient process. There are many groups trying to understand the mechanism by which adult cells become pluripotent, and what blocks that process and makes only a small percentage of cells end up being reprogrammed. We are providing information on why it happens", says Theka.

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One step closer to cell reprogramming

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Cedars-Sinai researchers identify how heart stem cells orchestrate regeneration

PUBLIC RELEASE DATE:

6-May-2014

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

LOS ANGELES (EMBARGOED UNTIL NOON ET ON MAY 6, 2014) Investigators at the Cedars-Sinai Heart Institute whose previous research showed that cardiac stem cell therapy reduces scarring and regenerates healthy tissue after a heart attack in humans have identified components of those stem cells responsible for the beneficial effects.

In a series of laboratory and lab animal studies, Heart Institute researchers found that exosomes, tiny membrane-enclosed "bubbles" involved in cell-to-cell communication, convey messages that reduce cell death, promote growth of new heart muscle cells and encourage the development of healthy blood vessels.

"Exosomes were first described in the mid-1980s, but we only now are beginning to appreciate their potential as therapeutic agents. We have found that exosomes and the cargo they contain are crucial mediators of stem cell-based heart regeneration, and we believe this might lead to an even more refined therapy using the 'active ingredient' instead of the entire stem cell," said Eduardo Marbn, MD, PhD, director of the Cedars-Sinai Heart Institute and a pioneer in developing investigational cardiac stem cell treatments.

"The concept of exosome therapy is interesting because it could potentially shift our strategy from living-cell transplantation to the use of a non-living agent," he added. "Stem cells must be carefully preserved to keep them alive and functioning until the time of transplant, and there are some risks involved in cell transplantation. In contrast, exosome therapy may be safer and simpler and based on a product with a longer shelf life."

In lab experiments, the researchers isolated exosomes from specialized human cardiac stem cells and found that exosomes alone had the same beneficial effects as stem cells. Exosomes also produced the same post-heart attack benefits in mice, decreasing scar size, increasing healthy heart tissue and reducing levels of chemicals that lead to inflammation. Even when exosomes were injected in mice after heart attack scars were well-established, and traditionally viewed as "irreversible," they brought about multiple structural and functional benefits.

Exosomes transport small pieces of genetic material, called microRNAs, that enable cells to communicate with neighboring cells to change their behavior. The researchers pinpointed one such microRNA one that is especially plentiful in cardiac stem cell exosomes as responsible for some of the benefits. It is likely, they believe, that this and other microRNAs in the exosomes work together to produce the regenerative effects.

"The exosomes appear to contain the signaling information needed to regenerate healthy heart tissue, they are naturally able to permeate cells, and they have a coating that protects their payloads from degradation as they shuttle from cell to cell," said Marbn, senior author of an article in the May 6, 2014 Stem Cell Reports. "Injecting exosomes derived from specialized cardiac stem cells may be an attractive alternative to the transplantation of living cells."

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Avoiding UTI’s After a Spinal Cord Injury – Video


Avoiding UTI #39;s After a Spinal Cord Injury
In this video I share tips and tricks to avoid urinary tract infections induced by intermittent catheter use.

By: Paralyzed Living

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Team Filosoma – eFactor 2014 – Video


Team Filosoma - eFactor 2014
For more info about eFactor 2014 see: http://www.efactor2014.dk Team Filosoma is a team of 5 mechanical engineering students from the Technical University of Denmark(DTU); Jakob Welner, Andreas...

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Team Filosoma - eFactor 2014 - Video

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Wings For Life World Run 2014 – Ring of Kerry, Ireland – Video


Wings For Life World Run 2014 - Ring of Kerry, Ireland
Ultra marathon athletes joined Irish sports stars and over 600 Irish runners on the start-line at the inaugural Wings For Life World Run in a cloudy but humid Killarney today (Sun, May 4th),...

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Bone marrow-on-a-chip unveiled

May 05, 2014 This is a microscopic view of the engineered bone with an opening exposing the internal trabecular bony network, overlaid with colored images of blood cells and a supportive vascular network that fill the open spaces in the bone marrow-on-a-chip. Credit: Harvard's Wyss Institute

The latest organ-on-a-chip from Harvard's Wyss Institute for Biologically Inspired Engineering reproduces the structure, functions and cellular make-up of bone marrow, a complex tissue that until now could only be studied intact in living animals, Institute researchers report in the May 4, 2014, online issue of Nature Methods. The device, dubbed "bone marrow-on-a-chip," gives scientists a much-needed new tool to test the effects of new drugs and toxic agents on whole bone marrow.

Specifically, the device could be used to develop safe and effective strategies to prevent or treat radiation's lethal effects on bone marrow without resorting to animal testing, a challenge being pursued at the Institute with funding from the U.S. Food and Drug Administration (FDA). In an initial test, the engineered bone marrow, like human marrow, withered in response to radiation unless a drug known to prevent radiation poisoning was present.

The bone marrow-on-a-chip could also be used in the future to maintain a cancer patient's own marrow temporarily while he or she underwent marrow-damaging treatments such as radiation therapy or high-dose chemotherapy.

"Bone marrow is an incredibly complex organ that is responsible for producing all of the blood cell types in our body, and our bone marrow chips are able to recapitulate this complexity in its entirety and maintain it in a functional form in vitro," said Don Ingber, M.D., Ph.D., Founding Director of the Wyss Institute, Judah Folkman Professor of Vascular Biology at Harvard Medical School and Boston Children's Hospital, Professor of Bioengineering at the Harvard School of Engineering and Applied Sciences, and senior author of the paper.

Ingber leads a large effort to develop human organs-on-chipssmall microfluidic devices that mimic the physiology of living organs. So far Wyss Institute teams have built lung, heart, kidney, and gut chips that reproduce key aspects of organ function, and they have more organs-on-chips in the works. The technology has been recognized internationally for its potential to replace animal testing of new drugs and environmental toxins, and as a new way for scientists to model human disease.

To build organ chips, in the past Wyss teams have combined multiple types of cells from an organ on a plastic microfluidic device, while steadily supplying nutrients, removing waste, and applying mechanical forces the tissues would face in the body. But bone marrow is so complex that they needed a new approach to mimic organ function.

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This complexity arises because bone marrow has an integral relationship with bone. Marrow sits inside trabecular bonea solid-looking type of bone with a porous, honeycombed interior. Throughout the honeycomb, conditions vary. Some areas are warmer, some cooler; some are oxygen-rich, others oxygen-starved, and the dozen or so cell types each have their own preferred spots. To add complexity, bone marrow cells communicate with each other by secreting and sensing a variety of biomolecules, which act locally to tell them whether to live, die, specialize or multiply.

Rather than trying to reproduce such a complex structure cell by cell, the researchers enlisted mice to do it.

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Bone marrow-on-a-chip unveiled

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Health Beat: Growing stem cells in space: Medicine's next big thing?

JACKSONVILLE, Fla. -

Hemorrhagic stroke is responsible for more than 30 percent of all stroke deaths. It happens when a weakened blood vessel ruptures and bleeds into the brain.

Its something Jon Galvan experienced five years ago when he almost died from a hemorrhagic stroke while at work.

"I was typing away and I felt a pop in my head," Galvan said.

He was able to recover, but Dr. Abba Zubair, medical director of transfusion medicine and stem cell therapy at Mayo Clinic, Florida, said not everyone is as fortunate.

"If it happens, you either recover completely or die," Zubair said. "Thats what killed my mother."

Zubair said he wants to send bone marrow derived stem cells to the international space station.

"Based on our experience with bone marrow transplant, you need about 200 to 500 million cells," Zubair said.

But conventionally grown stem cells take a month. Experiments on earth have shown that stem cells will grow faster in less gravity.

"Five to ten times faster, but it could be more," Zubair said.

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Health Beat: Growing stem cells in space: Medicine's next big thing?

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Questions and Answers

FAITH Stem Cell Research and Human Cloning by: FR. GAMMY TULABING I would like to share with you this article from the United States Conference of Catholic Bishops.

Questions and Answers

What is a stem cell?

A stem cell is a relatively unspecia-lized cell that, when it divides, can do two things: make another cell like itself, or make any of a number of cells with more specialized functions. For example, just one kind of stem cell in our blood can make new red blood cells, or white blood cells, or other kindsdepending on what the body needs. These cells are like the stem of a plant that spreads out in different directions as it grows.

Is the Catholic Church opposed to all stem cell research?

Not at all. Most stem cell research uses cells obtained from adult tissue, umbilical cord blood, and other sources that pose no moral problem. Useful stem cells have been found in bone marrow, blood, muscle, fat, nerves, and even in the pulp of baby teeth. Some of these cells are already being used to treat people with a wide variety of diseases.

Why is the Church opposed to stem cell research using the embryo?

Because harvesting these stem cells kills the living human embryo. The church opposes the direct destruction of innocent human life for any purpose, including research.

If some human embryos will remain in frozen storage and ultimately be discarded anyway, why is it wrong to try to get some good out of them?

In the end, we will all die anyway, but that gives no one a right to kill us. In any case, these embryos will not die because they are inherently unable to survive, but because others are choosing to hand them over for destructive research instead of letting them implant in their mothers womb. One wrong choice does not justify an additional wrong choice to kill them for research, much less a choice to make tax payers support such destruction. The idea of experimenting on human beings because they may die anyway also poses a grave threat to convicted prisoners, terminally ill patients, and others.

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Questions and Answers

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Eczema Could Reduce The Risk Of Skin Cancer, Research Shows

We put up with dry, itchy skin and are constantly applying creams to try (in vain) to fight the flake - but there might be some much needed good news for us eczema sufferers.

New research suggests eczema sufferers may have less chance of developing skin cancer.

A study conducted by experts at King's College London found the immune response triggered by eczema could stop tumours forming by shedding potentially cancerous cells.

Genetically engineered mice lacking three skin proteins - known as "knock-out" mice - were used to replicate some of the skin defects found in eczema sufferers.

Cancer-causing chemicals were tested on normal mice and the knock-out mice. Researchers found the number of benign tumours per mouse was six times lower in knock-out mice.

The new study, published in eLife, suggests both types of mice were equally susceptible to getting cancer-causing mutations, but an exaggerated inflammatory reaction in knock-out mice led to enhanced shedding of potentially cancerous cells from the skin.

Professor Fiona Watt, director of the centre for stem cells and regenerative medicine at King's College London, said: "We are excited by our findings as they establish a clear link between cancer susceptibility and an allergic skin condition in our experimental model.

"They also support the view that modifying the body's immune system is an important strategy in treating cancer.

"I hope our study provides some small consolation to eczema sufferers - that this uncomfortable skin condition may actually be beneficial in some circumstances."

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Eczema Could Reduce The Risk Of Skin Cancer, Research Shows

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Bioinformatics approach helps researchers find new uses for old drug

PUBLIC RELEASE DATE:

5-May-2014

Contact: Bonnie Prescott bprescot@bidmc.harvard.edu 617-667-7306 Beth Israel Deaconess Medical Center

BOSTON -- Developing and testing a new anti-cancer drug can cost billions of dollars and take many years of research. Finding an effective anti-cancer medication from the pool of drugs already approved for the treatment of other medical conditions could cut a considerable amount of time and money from the process.

Now, using a novel bioinformatics approach, a team led by investigators at Beth Israel Deaconess Medical Center (BIDMC) has found that the approved antimicrobial drug pentamidine may help in the treatment of patients with advanced kidney cancer. Described online in the journal Molecular Cancer Therapeutics, the discovery reveals how linking cancer gene expression patterns with drug activity might help advance cancer care.

"The strategy of repurposing drugs that are currently being used for other indications is of significant interest to the medical community as well as the pharmaceutical and biotech industries," says senior author Towia Libermann, PhD, Director of the Genomics, Proteomics, Bioinformatics and Systems Biology Center at BIDMC and Associate Professor of Medicine at Harvard Medical School. "Our results demonstrate that bioinformatics approaches involving the analysis and matching of cancer and drug gene signatures can indeed help us identify new candidate cancer therapeutics."

Renal cell cancer consists of multiple subtypes that are likely caused by different genetic mutations. Over the years, Libermann has been working to identify new disease markers and therapeutic targets through gene expression signatures of renal cell cancer that distinguish these different cancer subtypes from each other, as well as from healthy individuals. In this new paper, he and his colleagues were looking for drugs that might be effective against clear cell renal cancer, the most common and highly malignant subtype of kidney cancer. Although patients with early stage disease can often be successfully treated through surgery, up to 30 percent of patients with renal cell cancer present with advanced stages of disease at the time of their diagnosis.

To pursue this search, they made use of the Connectivity Map (C-MAP) database, a collection of gene expression data from human cancer cells treated with hundreds of small molecule drugs.

"C-MAP uses pattern-matching algorithms to enable investigators to make connections between drugs, genes and diseases through common, but inverse, changes in gene expression," says Libermann. "It provided us with an exciting opportunity to use our renal cell cancer gene signatures and a new bioinformatics strategy to match kidney cancer gene expression profiles from individual patients with gene expression changes inducted by various commonly used drugs."

After identifying drugs that may reverse the gene expression changes associated with renal cell cancer, the investigators used assays to measure the effect of the selected drugs on cells. This led to the identification of a small number of FDA-approved drugs that induced cell death in multiple kidney cancer cell lines. The investigators then tested three of these drugs in an animal model of renal cell cancer and demonstrated that the antimicrobial agent pentamidine (primarily used for the treatment of pneumonia) reduced tumor growth and enhanced survival. Gene expression experiments using microarrays also identified the genes in renal cell cancer that were counteracted by pentamidine.

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Bioinformatics approach helps researchers find new uses for old drug

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d27m – genetic engineering (omd cover) 2014 – Video


d27m - genetic engineering (omd cover) 2014
genetic engineering by d27m. 2014. http://www.d27m.fr.mu.

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Minecraft- Genetic Engineering Ranch Tour – Video


Minecraft- Genetic Engineering Ranch Tour
This is Dr. Mephesto #39;s Lab.

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Process – Genetic Engineering and Biotechnology – Video


Process - Genetic Engineering and Biotechnology

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Process - Genetic Engineering and Biotechnology - Video

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Genetic, environmental influences equally important risk for autism spectrum disorder

PUBLIC RELEASE DATE:

5-May-2014

Contact: Sid Dinsay sid.dinsay@mountsinai.org 212-241-9200 The Mount Sinai Hospital / Mount Sinai School of Medicine

In the largest family study on autism spectrum disorder (ASD) to date, researchers from the Icahn School of Medicine at Mount Sinai, along with a research team from the Karolinska Institutet in Stockholm Sweden and King's College in London found that individual risk of ASD and autistic disorder increased with greater genetic relatedness in families that is, persons with a sibling, half-sibling or cousin diagnosed with autism have an increased likelihood of developing ASD themselves. Furthermore, the research findings showed that "environmental" factors unique to the individual (birth complications, maternal infections, etc.) were more of a determinant for ASD than previously believed.

The population-based, longitudinal study, titled "The Familial Risk of Autism," was led by Abraham Reichenberg, PhD, Professor of Psychiatry and Preventive Medicine at the Icahn School of Medicine at Mount Sinai, and was first published online in the Journal of the American Medical Association.

"The findings from this extensive, prospective study will help improve how we counsel families with children who suffer from ASD and autistic disorder," said Dr. Reichenberg. "Currently, ASD affects nearly one percent of all children born in the United States. This study tells us that while we continue to study the genetic risk factors associated with ASD, we should find what environmental factors may play a role as well."

ASD is defined as impairment in social interaction and communication and the presence of restricted interests and repetitive behaviors; in the U.S., approximately one percent of the population is believed to have ASD. For purposes of this study, ASD included the definition for Asperger syndrome.

The study cohort comprised more than two million Swedish children born in 1982 through 2006, and included more than 1.6 million unique families. The breadth of this study allowed researchers the opportunity to examine a large spectrum of relatedness, including monozygotic (identical) and dizygotic (fraternal) twins; full siblings; maternal and paternal half siblings; and cousins. Single-child families were excluded from this study.

Researchers studied the relative recurrence risk, or RRR, for autism spectrum disorder and autistic disorder in these families and used it to determine heritability. Recurrence risk expresses the risk of having another affected family member in an already-affected family that is, the likelihood of a person in a family to be diagnosed with ASD if they have a sibling or cousin with autism spectrum disorder. RRR measures this recurrence in relation to disease in families without any affected members.

In calculating RRR for the different genetic relations, the researchers found that the closer the genetic relatedness, the greater the risk a sibling or cousin would also be diagnosed. Monozygotic twins had the highest adjusted RRR for ASD (estimated to be 153 times more likely to develop ASD); followed by full siblings (10.3 times), dizygotic twins (8.2), maternal half-siblings (3.3), paternal half-siblings (2.9) and cousins (2.0). Similar, if slightly higher, adjusted RRRs are found for autistic disorder: monozygotic twins (116.8), dizygotic twins (16.9), full siblings (14.6), maternal half-siblings (4.3), paternal half-siblings (2.9), and cousins (2.3).

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Genetic and Environmental Influences Are Equally Important Risk Factors for Autism Spectrum Disorder

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Newswise In the largest family study on autism spectrum disorder (ASD) to date, researchers from the Icahn School of Medicine at Mount Sinai, along with a research team from the Karolinska Institutet in Stockholm Sweden and Kings College in London found that individual risk of ASD and autistic disorder increased with greater genetic relatedness in families that is, persons with a sibling, half-sibling or cousin diagnosed with autism have an increased likelihood of developing ASD themselves. Furthermore, the research findings showed that environmental factors unique to the individual (birth complications, maternal infections, etc.) were more of a determinant for ASD than previously believed.

The population-based, longitudinal study, titled "The Familial Risk of Autism," was led by Abraham Reichenberg, PhD, Professor of Psychiatry and Preventive Medicine at the Icahn School of Medicine at Mount Sinai, and was first published online in the Journal of the American Medical Association.

The findings from this extensive, prospective study will help improve how we counsel families with children who suffer from ASD and autistic disorder, said Dr. Reichenberg. Currently, ASD affects nearly one percent of all children born in the United States. This study tells us that while we continue to study the genetic risk factors associated with ASD, we should find what environmental factors may play a role as well. ASD is defined as impairment in social interaction and communication and the presence of restricted interests and repetitive behaviors; in the U.S., approximately one percent of the population is believed to have ASD. For purposes of this study, ASD included the definition for Asperger syndrome.

The study cohort comprised more than two million Swedish children born in 1982 through 2006, and included more than 1.6 million unique families. The breadth of this study allowed researchers the opportunity to examine a large spectrum of relatedness, including monozygotic (identical) and dizygotic (fraternal) twins; full siblings; maternal and paternal half siblings; and cousins. Single-child families were excluded from this study. Researchers studied the relative recurrence risk, or RRR, for autism spectrum disorder and autistic disorder in these families and used it to determine heritability. Recurrence risk expresses the risk of having another affected family member in an already-affected family that is, the likelihood of a person in a family to be diagnosed with ASD if they have a sibling or cousin with autism spectrum disorder. RRR measures this recurrence in relation to disease in families without any affected members.

In calculating RRR for the different genetic relations, the researchers found that the closer the genetic relatedness, the greater the risk a sibling or cousin would also be diagnosed. Monozygotic twins had the highest adjusted RRR for ASD (estimated to be 153 times more likely to develop ASD); followed by full siblings (10.3 times), dizygotic twins (8.2), maternal half-siblings (3.3), paternal half-siblings (2.9) and cousins (2.0). Similar, if slightly higher, adjusted RRRs are found for autistic disorder: monozygotic twins (116.8), dizygotic twins (16.9), full siblings (14.6), maternal half-siblings (4.3), paternal half-siblings (2.9), and cousins (2.3).

Participants were followed for 20 years or until 2009, whichever came first. (Regular medical and developmental examinations are required for Swedish children as infants and throughout preschool.) At four years of age, a mandatory developmental assessment is conducted. From that assessment, children with suspected developmental disorders are referred for additional assessment. These assessments ensured completeness of data for the study.

This study held several advantages over previous studies, which may account for differences in research findings. The large sample size, established using data from multiple Swedish national registries, provided researchers with an unbiased population-based sample. Additionally, the length of follow-up time in this study increased the reliability of the finding results. This study was also one of the first to be able to accurately calculate RRR, by including twice as many cases of ASD and more detailed family data, including monozygotic and dizygotic twins and cousins, than previous studies.

This study was supported, in part, by grants from the National Institutes of Health: Grant HD073978 from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the National Institute of Environmental Health Sciences, and National Institute of Neurological Disorders and Stroke; and Grant MH097849 from the National Institute of Mental Health; and by the Beatrice and Samuel A. Seaver Foundation.

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Genetic and Environmental Influences Are Equally Important Risk Factors for Autism Spectrum Disorder

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Minecraft Tutorials – Advanced Genetics – Man Plus – Video


Minecraft Tutorials - Advanced Genetics - Man Plus
Part two of my Minecraft tutorial series for Advanced Genetics. In this video you will find out how to make yourself super human in any mod pack that include...

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University of California, Irvine – Department of Microbiology & Molecular Genetics – Video


University of California, Irvine - Department of Microbiology Molecular Genetics
Researchers in the Microbiology and Molecular Genetics department work on several different aspects of digestive disorders. These include the development of more sensitive DNA sequencing approaches...

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