Archive for the ‘Gene Therapy Research’ Category

Washington, Aug 11 (IANS) Children born with genetic birth defects like Down's syndrome are at an increased risk of developing childhood cancer, says a study.

Scientists have said that children born with non-chromosomal birth defects have a two-fold higher risk of cancer before age 15, compared to children born without birth defects.

However, cancer risk varies by the specific type of birth defect, and is not significantly increased in many of the more common birth defects, Science Daily reported citing the study published in July in PLOS ONE.

Birth defects are an increasing health concern worldwide, and in 2010 the World Health Organisation identified birth defect prevention and care as a global priority.

"There is a large body of evidence for increased cancer risk in children with Down's syndrome, a genetic birth defect caused by the presence of an extra copy of chromosome 21," says Lorenzo Botto, professor of paediatrics at the University of Utah School of Medicine and an author of the study.

"However, studies to date have provided inconsistent findings on cancer risk in children with structural birth defects that are not caused by chromosome abnormalities."

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Genetic birth defects may lead to childhood cancer

Public release date: 11-Aug-2013 [ | E-mail | Share ]

Contact: Eric Peters petersem@vcu.edu 804-828-0563 Virginia Commonwealth University

An international consortium has shown for the first time evidence of substantial overlap of genetic risk factors shared between bipolar disorder, major depressive disorder and schizophrenia and less overlap between those conditions and autism and attention deficit-hyperactivity disorder (ADHD), according to a study published this week in Nature Genetics' Advance Online publication.

The root cause of psychiatric illnesses such as bipolar disorder, major depressive disorder schizophrenia, autism and ADHD is not fully understood. For more than 125 years, clinicians have based diagnosis on a collection of symptoms observed in patients.

But, scientists have since identified that the five psychiatric disorders share a common genetic link and are now moving toward understanding the molecular underpinnings of psychiatric illness. The precise degree to which these disorders share common ground has remained unknown, until now.

The project is led by the Cross-Disorder Group of the Psychiatric Genomics Consortium and is the largest genetic study of psychiatric illness to date.

The findings provide insight into the biological pathways that may predispose an individual to disease and could ultimately lead to the development of new therapeutic avenues to treat the five major psychiatric illnesses.

"This is a very large scale study using a new, innovative statistical method," said study co-senior author Kenneth S. Kendler, M.D., professor of psychiatry, and human and molecular genetics in the Virginia Commonwealth University School of Medicine, and an internationally recognized psychiatric geneticist.

"Prior to this model, we have not been able to address these questions. These results give us by far the clearest picture available to date of the degree of genetic similarity between these key psychiatric disorders. We hope that this will help us both in developing a more scientifically based diagnostic system and understanding the degree of sharing of the biological foundation these illnesses," he said.

The study builds on findings published earlier this year in The Lancet, which reported that specific single nucleotide polymorphisms, or SNPs, are associated with a range of psychiatric disorders that can occur during childhood or adulthood.

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New patterns found in the genetic relationship of 5 major psychiatric disorders

Participants Learn Their Risk for Complex Diseases

Doni Bloomfield

To Know or Not To Know: Dr Kroenthal holds a vial of DNA

An email popped up in Hershel Richmans inbox. Your new personalized risk report is now available through the CPMC web portal! the email cheerfully informed him. Its contents were tactfully vague: some talk of genetic counselors and a medicine collaborative. But this wasnt some credit report spam, or a Nigerian phishing scam. No, Richman, a retired environmental lawyer and former president of Jewish Learning Venture, a not-for-profit based in Pennsylvania, was about to find out his relative likelihood of developing macular degeneration, one of the leading causes of blindness in the United States.

Richman had given the New Jerseybased Coriell Institute his family history, his medical history, his diet and exercise routines and his DNA as one of 7,500 volunteers seeking to help advance mankinds understanding of the genetic basis for disease. The genetics lab had scanned his genes, crunched the numbers, weighed his odds and were ready to tell him how likely he was to go blind.

Im the type of guy who wants to go to the bottom line, says Richman, and so he breezed past information about the disease, declined to speak to a genetic counselor immediately, agreed to see the results, assured the computer that he really was ready to see the results and got to the numbers. As always, he was eager to find out his risks. Coriell had previously informed him about his risk for heart disease, type 2 diabetes and adverse reactions to the anticoagulant coumadin, as scientists linked genes to these conditions.

Along with his fellow participants, Richman had become accustomed to periodically learning his odds for contracting various grave illnesses. In a way, Coriells study makes all its participants betting men and women.

The Coriell Institute was founded 60 years ago by Dr. Lewis Coriell, a researcher who helped make Jonas Salks polio vaccine reproducible on a mass scale. In 2009, it launched an ambitious new project: the Coriell Personalized Medicine Collaborative. The CPMC seeks to enroll 10,000 volunteers, scan selected sites of their genome, look over their family history and current lifestyle, inform them of their medical risks for common illnesses and track what they do with the information.

Are people able to fend off their genetic predispositions? Will they overreact? Do nothing? With the price of sequencing falling and the emergence of new genetic scanning firms, understanding the pros and cons of knowing ones genetic risks is increasingly urgent. Whether patients take genetic profiles as destiny or discard them as meaningless may decide the future of personalized medicine.

Were not talking about diseases like Tay-Sachs or cystic fibrosis where one gene [leads to] one disease, says Erynn Gordon, director of genetic counseling at Coriell. Thats kind of the classical model of genetics that most people think of the peas and Mendel. Indeed, because the CPMC focuses on complex genetic conditions, it doesnt even screen for most single-gene diseases, deadly as some may be.

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Coriell Institute Gives Patients a Genetic Crystal Ball — With Consequences

Genetics - Just The Two of Us @ The Aggie Theatre
Feat Nick Dalessandro on sax and Josh Voegler on percussion.

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Omics Group Hereditary Genetics Current Research 2161 1041 1 112

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Omics Group Hereditary Genetics Current Research 2161 1041 1 112 - Video

Hendrix Genetics corporate video, Chinese version

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#39;Spiritual Genetics #39; by Pastor Apollo C. Quiboloy on Give Us This Day - SMNI
Powerline: August 8, 2013 What is Spirit and truth? The Spirit that we talk about here is the spirit of obedience to His Will that makes us connected to the...

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'Spiritual Genetics' by Pastor Apollo C. Quiboloy on Give Us This Day - SMNI - Video

How to Say or Pronounce Genetics
Get those medical secrets: http://www.health101.pw/Medical-Secrets.shtml This video shows you how to say or pronounce Genetics. Audio is from cancer.gov.

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#39;Spiritual Genetics - Part 2 #39; by Pastor Apollo C. Quiboloy on Give Us This Day - SMNI
Powerline: August 9, 2013 wit special guest Senator Paolo Benigno "BAM" Aquino IV. What is Spirit and truth? The Spirit that we talk about here is the spiri...

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'Spiritual Genetics - Part 2' by Pastor Apollo C. Quiboloy on Give Us This Day - SMNI - Video

Familial/Genetics and PAH
From PHA #39;s 2012 International PH Conference What is familial pulmonary arterial hypertension? Learn about what is known about the genetic basis of pulmonary ...

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Familial/Genetics and PAH - Video

Let #39;s Play The Sims 3 Male Sim Perfect Genetics Challenge Episode 3

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LOS ANGELES, Aug. 12, 2013 (GLOBE NEWSWIRE) -- Response Genetics, Inc. (RGDX), a company focused on the development and sale of molecular diagnostic tests that help determine a patient's response to cancer therapy, today announced that it has entered into an agreement with MultiPlan, Inc., the industry's most comprehensive provider of healthcare cost management solutions.

As a participating provider in the PHCS and MultiPlan Networks, MultiPlan's clients will now have access to all of Response Genetics' molecular diagnostic testing. Response Genetics specializes in predictive genomic testing that supplies treating physicians with actionable information helping the physicians determine what drugs will have the greatest response from each of their patients battling lung, colorectal, gastric and melanoma cancers. The personalized nature of Response Genetics' testing allows for each patient to be placed on the most effective drug regimen for his or her cancer treatment.

About MultiPlan

MultiPlan, Inc. is the industry's most comprehensive provider of healthcare cost management solutions. The company provides a single gateway to a host of primary, complementary and out-of-network strategies for managing the financial risks associated with healthcare claims. Clients include insurers/health plans, third-party administrators, self-funded employers, HMOs and other entities that pay medical bills in the commercial healthcare, government, workers compensation and auto markets. MultiPlan contracts with over 900,000 healthcare providers across the nation and has an estimated 67 million consumers accessing its provider network products. MultiPlan is owned by BC Partners, a leading international private equity firm, and Silver Lake, the world's largest private investor in technology. For more information, visit http://www.MultiPlan.com.

About Response Genetics, Inc.

Response Genetics, Inc. (the "Company") is a CLIA-certified clinical laboratory focused on the development and sale of molecular diagnostic testing services for cancer. The Company's technologies enable extraction and analysis of genetic information derived from tumor cells stored as formalin-fixed and paraffin-embedded specimens. The Company's principal customers include oncologists and pathologists. In addition to diagnostic testing services, the Company generates revenue from the sale of its proprietary analytical pharmacogenomic testing services of clinical trial specimens to the pharmaceutical industry. The Company's headquarters is located in Los Angeles, California. For more information, please visit http://www.responsegenetics.com.

Forward-Looking Statement Notice

Except for the historical information contained herein, this press release and the statements of representatives of the Company related thereto contain or may contain, among other things, certain forward-looking statements, within the meaning of the Private Securities Litigation Reform Act of 1995.

Such forward-looking statements involve significant risks and uncertainties. Such statements may include, without limitation, statements with respect to the Company's plans, objectives, projections, expectations and intentions, such as the ability of the Company, to provide clinical testing services to the medical community, to continue to strengthen and expand its sales force, to continue to build its digital pathology initiative, to attract and retain qualified management, to continue to strengthen marketing capabilities, to expand the suite of ResponseDX(R) products, to continue to provide clinical trial support to pharmaceutical clients, to enter into new collaborations with pharmaceutical clients, to enter into areas of companion diagnostics, to continue to execute on its business strategy and operations, to continue to analyze cancer samples and the potential for using the results of this research to develop diagnostic tests for cancer, the usefulness of genetic information to tailor treatment to patients, and other statements identified by words such as "project," "may," "could," "would," "should," "believe," "expect," "anticipate," "estimate," "intend," "plan" or similar expressions.

These statements are based upon the current beliefs and expectations of the Company's management and are subject to significant risks and uncertainties, including those detailed in the Company's filings with the Securities Exchange Commission. Actual results, including, without limitation, actual sales results, if any, or the application of funds, may differ from those set forth in the forward-looking statements. These forward-looking statements involve certain risks and uncertainties that are subject to change based on various factors (many of which are beyond the Company's control). The Company undertakes no obligation to publicly update forward-looking statements, whether because of new information, future events or otherwise, except as required by law.

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Response Genetics, Inc. Announces Contract With MultiPlan, Inc.

How to Say or Pronounce Gene Therapy
Get those medical secrets: http://www.health101.pw/Medical-Secrets.shtml This video shows you how to say or pronounce Gene Therapy. Audio is from cancer.gov.

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How to Say or Pronounce Gene Therapy - Video

BIG WORDS | "Cell Therapy"
Long Live Hip Hop! BIG WORDS now playing! Tix + full tour at http://www.affrm.com/

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BIG WORDS | "Cell Therapy" - Video

Stem cell therapy shows promise in repairing brain damage even hours after stroke occurs

Durham, NC Stroke is a major health concern and is a leading cause of death in the United States, according to the Center for Disease Control. Despite significant research efforts, developing treatments that ensure complete recovery for stroke patients poses an extreme challenge, especially when more than a few hours have passed between onset of the stroke and administration of treatment.

However, a new study released today in STEM CELLS Translational Medicine indicates that endothelial precursor cells, which are found in the bone marrow, umbilical cord blood, and as very rare cells in peripheral blood, could make a significant difference for these patients recovery even in the later stages of stroke. In animal studies, the treatment minimized the initial brain injury and helped repair the stroke damage.

Previous studies indicated that stem/progenitor cells derived from human umbilical cord blood (hUCB) improved functional recovery in stroke models, noted Branislava Janic, Ph.D., a member of Henry Ford Health Systems Cellular and Molecular Imaging Laboratory in Detroit and lead author of the study. We wanted to examine the effect of hUCB-derived AC133+ endothelial progenitor cells (EPCs) on stroke development and resolution in rats.

Dr. Janic and his team injected rats that had suffered strokes with the stem cells. When they later examined the animals using MRI, they found that the transplanted cells had selectively migrated to the injured area and that the stem cells stopped the tissue damage from spreading, instigated regeneration, and also affected the time course for stroke resolution. A significant decrease in lesion size also was observed, at a dose of 10 million cells, as early as seven days after the strokes onset.

This led us to conclude that cord blood-derived EPCs can significantly contribute to developing more effective treatments that allow broader time period for intervention, minimize the initial brain injury and help repair the damage in later post-stroke phases, Dr. Janic said.

The early signs of stroke are often unrecognized, and many patients cannot take advantage of clot-busting treatments within the required few hours after stroke onset, said Anthony Atala, M.D., editor of STEM CELLS Translational Medicine and director of the Wake Forest Institute for Regenerative Medicine. In this animal study, a combination of stem cells shows promise for healing stroke damage when administered 24 hours after the stroke.

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The full article, Intravenous administration of human umbilical cord blood derived AC133+ endothelial progenitor cells in rat stroke model reduces infarct volume magnetic resonance imaging (MRI) and histological findings, can be accessed at http://www.stemcellstm.com.

About STEM CELLS Translational Medicine: STEM CELLS TRANSLATIONAL MEDICINE (SCTM), published by AlphaMed Press, is a monthly peer-reviewed publication dedicated to significantly advancing the clinical utilization of stem cell molecular and cellular biology. By bridging stem cell research and clinical trials, SCTM will help move applications of these critical investigations closer to accepted best practices.

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Stem cell therapy shows promise in repairing brain damage

Aug. 10, 2013 Results from a clinical trial of eteplirsen, a drug designed to treat Duchenne muscular dystrophy, suggest that the therapy allows participants to walk farther than people treated with placebo and dramatically increases production of a protein vital to muscle growth and health. The study, led by a team in The Research Institute at Nationwide Children's Hospital, is the first of its kind to show these results from an exon-skipping drug -- a class of therapeutics that allows cells to skip over missing parts of the gene and produce protein naturally.

"I've been doing this for more than 40 years and this is one of the most exciting developments we've seen," says Jerry Mendell, MD, lead author of the study and director of the Center for Gene Therapy at Nationwide Children's. "It offers great hope to patients with Duchenne muscular dystrophy and their families."

The research, which appears online Aug. 1 in the journal Annals of Neurology, is the first study from a double-blind controlled randomized trial of an exon-skipping agent to provide conclusive proof based on the standard six-minute walk test used to measure muscle function in patients with Duchenne muscular dystrophy (DMD), the most common form of muscular dystrophy in children.

About one in every 5,000 male births in the U.S. has the disorder, which usually leaves patients unable to walk on their own by age 12. Children with DMD have a mutation that cripples the body's ability to produce a protein called dystrophin, which helps absorb the shock or energy that's created when a muscle contracts. Without it, that released energy injures muscle fibers. Over time, the muscle degenerates, scar tissue builds up and fat slowly replaces the dead muscle.

The exact mutation varies from patient to patient but in 65 percent of cases, the dystrophin gene is missing large sections of DNA called exons, which carry the instructions for protein production. Accompanying this type of mutation is a spontaneously occurring reaction that enables muscle cells to skip over the deleted sections and produce smaller -- but functional -- versions of protein.

Eteplirsen, manufactured by Sarepta Therapeutics in Cambridge, Mass., mimics this naturally occurring phenomenon, allowing cells to skip over exon 51 in the dystrophin gene. About 13 percent of patients with the disorder have this mutation. Nationwide Children's began the phase II trial of eteplirsen in August 2011, enrolling 12 boys age 7 to 12 years.

Participants received the drug via weekly IVs, with one group getting a 30 mg/kg dose and another group receiving 50 mg/kg. A control group received a placebo. Participants completed a six-minute walk test at the outset and again at weeks 12, 24 and 48. Muscle biopsies were also taken when the study began and again at those intervals to measure for dystrophin-positive muscle fibers.

Although there was no dystrophin production at 12 weeks, participants showed a 23 percent increase in dystrophin-positive muscle fibers by the 24-week mark. The striking improvement and lack of side effects prompted researchers to switch participants in the placebo group to the drug. By week 48, participants had a 52 percent increase in dystrophin-positive muscle fibers and were able to walk 67.3 meters farther than the placebo group on the six-minute walk test.

Although the results are promising, Dr. Mendell is quick to note that the small study leaves many questions unanswered. For example, researchers would like to know how the drug affects dystrophin production in muscles throughout the limbs and whether some muscles may get a bigger boost than others.

"We know that if you have an area that is not expressing dystrophin, the membrane will be fragile and vulnerable to activity-related degeneration," says Dr. Mendell, who also is director of the Neuromuscular Disorders program at Nationwide Children's and a professor of pediatrics in The Ohio State University College of Medicine. "There may be factors that lead to preferential localization of the dystrophin production. That's one of many issues we'd like to investigate further."

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Combined therapy could repair and prevent damage in Duchenne muscular dystrophy, study suggests

Toronto, ON (PRWEB) August 10, 2013

Bel Marra Health, who offers high-quality, specially formulated vitamins and nutritional supplements, reports on a recent study revealing that the mutation in the SLC26A4 gene causing hearing loss could be restored.

As Bel Marra Health reports in its article, (http://www.belmarrahealth.com/general-health-2/could-a-gene-restore-your-hearing/) hearing loss is a problem that affects roughly 13 percent of the United States this means 38.2 million people in the country suffer from partial or total loss of hearing. Whether it's noise-related hearing loss, age-related deafness, or even genetic hearing impairment, the loss of one of the most important senses we have can impact many aspects of one's life. Fortunately, the results of a new research study suggest that these effects may not have to be permanent after all, locating a specific gene that may hold the key to restoring hearing loss for good.

The journal PLoS Genetics has recently published an article detailing the success of a project at Kansas State University. The researchers at the university attempted to restore balance and hearing. Their findings show promise for great things in the future of auditory exploration.

The study examined hereditary or genetic hearing loss, specifically deafness caused by a mutation in the SLC26A4 gene. The mutation of this gene can cause pendrin (a protein that is found in the cells of your inner ear) expression to be reduced, which can lead to swelling in the inner ear. This swelling can not only lead to loss of balance, but also hearing loss. Thus, the goal of the study was fairly simple: fix the genetic mutation problem, and the ear should start working properly once again.

During the study, the first problem researchers encountered was that the SLC26A4 gene was produced in so many parts of the body, therefore it became impossible to eliminate it all. Their solution was to simply remove the gene from the inner ear and cochlea. The study - conducted on mice - resulted in the mice having their hearing restored for the duration of the test period, as there was no swelling of the inner ear that was responsible for their hereditary hearing loss. The correction of this simple gene mutation proved to be enough to restore the hearing in mice, which shows much potential as further studies need to be conducted for the future of treating deafness in humans.

In a previous study, published in the July 2012 edition of the journal, Neuron, another cause of hearing loss was tackled: damage to the hairs of the inner ear. These hairs are responsible for picking up all the little vibrations that are translated into sounds by the brain, but genetic defects in these hairs can lead to hearing impairment and hearing loss.

Dr. Lawrence Lustig and a team of doctors at the University of California in San Francisco, injected a protein named VGLUT3 directly into mice suffering from hereditary deafness. The result showed all of the mice in the study were able to hear once again. There was no damage to the ear, and the injections actually helped to correct structural defects in the cells making up the inner ear hairs.

So, what do both of these studies mean to the future of hearing aid technology? Some speculate that a brand new phone app could render hearing aids a thing of the past, while others believe that these studies could lead to serious strides of progress towards curing genetic deafness. While these studies were only done on mice, the success of the studies will lead to human testing - which may eventually lead to discoveries that will help mankind to cure hearing loss once and for all.

(SOURCE: Xiangming Li, et al. SLC26A4 Targeted to the Endolymphatic Sac Rescues Hearing and Balance in Slc26a4 Mutant Mice. PLoS Genetics, 2013.)

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Bel Marra Health Reports on Recent Research Revealing A Gene To Restore Hearing Loss

Paul Root Wolpe: Kurzweil #39;s Singularity Prediction is Wrong (YouTube Geek Week!)
Bioethicist Paul Root Wolpe argues that the Singularity envisioned by Ray Kurzweil isn #39;t quite right. SUBSCRIBE to Big Think: http://goo.gl/cZlhxI Watch more...

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3 Cool Materials That Mimic Shark Skin
Sharks are built to be the perfect killers, swimmers, and survivors. And we lowly humans are finally realizing the genius of their design. And their skin is ...

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If Initiative 522 passes, raw agricultural products that are genetically engineered, and processed foods with such ingredients, will have to be labeled beginning July 1, 2015.

Agricultural products would be labeled genetically engineered. Processed foods would carry a label on the front of packages saying partially produced with genetic engineering or may be partially produced with genetic engineering.

Although the measure refers to genetic engineering, such crops are more commonly called genetically modified organisms, or GMOs.

Here are some key details:

Food sold in restaurants is exempt, as are alcoholic beverages.

Certified organic food, which by law cant contain any deliberately added GE ingredients, is also exempt.

Meat from animals that are genetically engineered must be labeled, but not meat from animals that ate genetically engineered feed.

Food produced with processing aids or enzymes is exempt if those are its only genetically engineered ingredients. Until July 1, 2019, there is an exemption for processed food in which genetically engineered ingredients are 0.9 percent or less of the total weight.

Genetically engineered seeds sold at retail also would be labeled.

Retailers, farmers and anyone else in the food business could be protected from liability if they have statements from either suppliers or an independent testing organization saying ingredients are not genetically engineered.

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What I-522 would require

Public School Supporter Hollywood Hypocrite Matt Damon sends kids to private school
Matt Damon, whose mom is a public school teacher, has long been a vocal advocate of public schools. And yet, as he moves to LA, he #39;s sending his four daughte...

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Public School Supporter

Horrible Drunk People Play Borderlands 2! 1x30: Drunks Argue Genetics
Rob from http://flailthroughs.blogspot.com plays through Borderlands 2 along with Isstvan82 and AngeliqueDaemon! This session I was slightly lit and they wer...

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A lesson in basic genetics
FIRST member and former biology teacher gives a unique lesson in basic genetic mutation.

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Empire Farm Days Polled Genetics Panel Part I

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The molecular genetics of down syndrome
The molecular genetics of down syndrome by Kevin M. Windisch MD, FAAP and Sparks Pediatric and Adolescent Medicine.

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