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 crkl in 22q112 a key gene that contributes to common birth defects
crkl in 22q11.2; a key gene that contributes to common birth defects

IMAGE: Dr. Dolores Lamb is the director of the Center for Reproductive Medicine and professor and vice chair for research of urology and molecular and cellular biology at Baylor College of...
view more Credit: Baylor College of MedicineThe 22q11.2 region of human chromosome 22 is a hotspot for a variety of birth defects. Scientists learned about this region because it is deleted in about 1 in 4,000 births, causing the loss or duplication of up to 40 genes. This chromosome microdeletion or microduplication can result in a number of developmental abnormalities that vary greatly in severity among affected individuals. What many of the genes in this region do is not well understood, but when a set of these genes is absent it can cause havoc in the development and function of the heart, immun

researchers identify gene that controls birth defect common in diabetes

Researchers have identified a gene that plays a key role in the formation of neural tube defects, a problem commonly found in infants of pregnant women with diabetes. This is the first time the gene has been shown to play this role; it opens up a new way to understand these defects, and may one day lead to new treatments that could prevent the problem or decrease its incidence.The findings were published today in the journal Nature Communications."This gene plays a crucial role in the process that leads to these defects," said the study's lead author, Peixin Yang, a professor in the Department of Obstetrics, Gynecology and Reproductive Sciences at UM SOM. "Now that we have pinpointed the mechanism, we can begin to focus on how we can stop it from happening in humans." Neural tube defects (

cilia structure plays a major role in determining susceptibility to neural tube

Research published online in The FASEB Journal shows that the improper methylation of a protein called "Septin2," which regulates the structure of cilia, was associated with an increased risk of having a neural tube defect (NTD) and confirms that cilia are important factors in determining susceptibility of NTDs. "NTDs are devastating birth defects that compromise multiple aspects of a child's development," said Richard H. Finnell, Ph.D., DABMGG, a researcher involved in the work at the Department of Pediatrics, Dell Medical School, University of Texas at Austin (Austin, Texas). "Preventative methods, while remarkably effective, are not perfect. Efforts must be taken to understand leading developmental pathways that are amenable to modifications that offer hope for correcting the deficits s

virus study targets infection linked to birth defects

Fresh insights into how a common virus replicates could pave the way for new therapies to stop its spread.Scientists have discovered a key molecule linked to Human Cytomegalovirus (HCMV) infection, which is harmless for healthy people but can cause miscarriage and birth defects during pregnancy.Tests on infected cells found that blocking the molecule with a chemical inhibitor stops the virus from multiplying.The molecule - called VCP - is a component of the infected cell rather than a substance produced by the virus itself.Researchers at the University of Edinburgh's Roslin Institute found the virus is dependent on VCP to replicate its genetic material and multiply.Chemicals that block the activity of VCP are 10 times more powerful at stopping the virus than existing medications that targe

usc researchers close to identifying crucial gene for human cleft lip and palate

A group of researchers has found that three siblings born with cleft lip and palate share a common gene mutation associated with the birth defect.The gene intraflagellar transport 88 (IFT88) ensures transportation antennae (cilia) on embryonic cells travel to the right place, enabling the development of cartilage, bone and smooth muscle in the face and skull."Finding this birth defect in every single child in a family is like catching lightning in a bottle because it allowed us to pinpoint the gene mutation that is probably responsible," said Yang Chai, senior author of the study and director of the Center for Craniofacial Molecular Biology at the Herman Ostrow School of Dentistry of USC. "Our finding that the gene IFT88 is involved in cleft lip and palate is unlikely to be mere coincidenc

zika: 10% of babies exposed develop brain abnormalities

In 2016, pregnant women in 44 states in the U.S. showed signs of Zika infection. Most had traveled to an area where the virus was known to be transmitted by mosquitoes and were exposed to the virus in that way.Of 1000 women who gave birth in 2016, 250 had confirmed signs of Zika after testing, and one in 10 had a fetus or baby with birth defects, according to the CDC.The information comes from the U.S. Zika Pregnancy Registry, which tracks pregnant women with evidence of Zika infection, and represent the largest collection of information on birth outcomes from women with laboratory confirmed infection with Zika. The findings show a higher rate of birth defects, most commonly microcephaly, than a previous report released last December.The findings stress the need to remain alert to the risk

new gene identified in lou gehrig's disease

May 15, 2017 Chicago...For the first time, a variant in UBQLN4 gene has been associated with Lou Gehrig's disease or amyotrophic lateral sclerosis (ALS) - a progressive disease resulting in the loss of nerve cells that control muscle movement, which eventually leads to paralysis and death. The study published in the journal eLife also describes how this gene variant disrupts a cellular process that drives motor neuron development. This new insight opens the door to potential treatment targets for ALS."We know that many genes are involved in ALS and a major goal in the field is to identify as many of these genes as we can so we can uncover targets for treatment at the cellular level," says lead author Brittany Edens from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie C

worm moms pump eggs full of toxin, demand they inherit an antidote

Enlarge/C. elegans, with the pharynx in the end that’s on the left.University of WisconsinShare this storyRemember that part in Casino Royale when Bond sips his martini, realizes he has been poisoned, then rushes out to his Aston Martin to inject himself with the antidote that Q thoughtfully stashed beforehand? This is exactly like that. Except, instead of Daniel Craig (*sigh*), it’s with worm larvae.The roundworm Caenorhabditis elegans is a favorite laboratory model organism of geneticists and developmental biologists, mainly because it is simple, transparent, and easy to grow in bulk. Most worm researchers use the standard N2 strain, typically called the Bristol strain because it was isolated from mushroom compost in Bristol, England, in 1951.Having a common reference strain like this is

worm moms pump eggs full of toxin, demand they inherit an antidote

Enlarge/ A male C. elegans, with the pharynx in the end that’s on the left.University of WisconsinShare this storyRemember that part in Casino Royale when Bond sips his martini, realizes he has been poisoned, then rushes out to his Aston Martin to inject himself with the antidote that Q thoughtfully stashed beforehand? This is exactly like that. Except, instead of Daniel Craig (*sigh*), it’s with worm larvae.The roundworm Caenorhabditis elegans is a favorite laboratory model organism of geneticists and developmental biologists, mainly because it is simple, transparent, and easy to grow in bulk. Most worm researchers use the standard N2 strain, typically called the Bristol strain because it was isolated from mushroom compost in Bristol, England, in 1951.Having a common reference strain like

gene study sheds light on causes of childhood sight loss

A genetic mutation that contributes to sight loss in children has been identified by scientists. The mutation was identified in patients with a disease known as ocular coloboma, which causes part of the eye to be missing at birth. The findings shed light on its causes and help to explain how genes contribute to development of the eye, researchers say.Ocular coloboma accounts for up to 10 per cent of all childhood blindness. It can cause a distinctive keyhole-shaped pupil as it commonly results in a missing segment in the iris, the coloured part of the eye. Few genetic causes have so far been found to explain the cause of coloboma. The research team -- lead by the University of Edinburgh -- worked with 12 families, studying the DNA of children with coloboma and their unaffected parents.Usin

molecular scale transporter with a twist, powered by liquid crystal defects

Defects that break the symmetry of otherwise orderly material are called topological defects. In solid crystals, they are called dislocations because they interrupt the regularly structured atom lattice. In contrast, topological defects called disclinations take the form of loops in liquid crystal of the nematic variety, whose elongated molecules look like a shoal of fish. New experiments supported by a theoretical model show how defects forming loops around twisted plastic fibres dipped in liquid crystal could be used for the transport of biochemical substances, when controlled by electric and magnetic fields.

gene-delivery system prevents vision loss from inherited eye disease

IMAGE: Modified ECO nanoparticles bind to interphotoreceptor retinoid-binding protein (IRBP), which transports them to the target cells in the retinal pigment epithelium (RPE.) The ECO is taken up by the cell...
view more Credit: Zheng-Rong LuResearchers at Case Western Reserve University have developed gene-carrying nanoparticles that home in on target cells and prevent vision loss in mice with a human form of Leber congenital amaurosis.The condition is one of the most common causes of blindness in children, according to the National Institutes of Health, affecting two to three of every 100,000 newborns.Though this research focused on the form of the disease called Leber congenital amaurosis 2, or LCA2, the scientists and engineers involved in the study believe the technology holds prom

gene drives may cause a revolution, but safeguards and public engagement are nee

Gene drives could prove useful for controlling mosquitoes which spread diseases like malaria, dengue and zika virus. Credit: www.shutterstock.comA "gene drive" occurs when a specific gene is spread at an enhanced rate through an animal or plant population.
It's something that happens in nature. Across the world, we've already seen examples of natural gene drives affecting gene frequencies in insects and mice, and the successful use of natural gene drives in changing mosquito populations to reduce disease transmission. But new technologies such as CRISPR are enhancing opportunities for scientists to use gene drives in an applied manner. This week, the Australian Academy of Sciences released a paper to trigger discussion around the scientific, practical, regulatory and ethical issues in an

dog dna influences face shape

Credit: CC0 Public DomainA study of dog DNA has revealed a genetic mutation linked to flat face shapes such as those seen in pugs and bulldogs.
The research reveals new insights into the genes that underpin skull formation in people and animals.Skull developmentScientists say their findings also shed light on the causes of birth defects that affect babies' head development in the womb.Researchers at the University of Edinburgh's Roslin Institute analysed DNA samples from 374 pet dogs of various pedigree and mixed breeds. The dogs were being treated at the Royal (Dick) School of Veterinary Studies.Animal scans All of the animals underwent body scans as part of their care, producing detailed 3-dimensional images of the dogs' heads.These high-resolution images – called CT scans – enabled th

nintendo says dead switch pixels are “normal,” which isn’t wrong

Enlarge/ Stuck pixels on LCD displays are undesirable, but they are definitionally "normal." Mark WaltonShare this storySome early Nintendo Switch buyers are complaining of dead or stuck pixels on the tablet's display, according to a report in The Guardian about a fairly active Reddit thread. A pixel is considered "dead" if all or part of it never lights up at all, while a pixel or subpixel is considered "stuck" if it's always lit up no matter what's being displayed onscreen. Pixel defects can be annoying and distracting, but Nintendo indicates that it won't be replacing these tablets under warranty any time soon."Small numbers of stuck or dead pixels are a characteristic of LCD screens," the company said in a statement. "These are normal and should not be considered a defect."This is a cl

dog skull study reveals genetic changes linked to face shape

A study of dog DNA has revealed a genetic mutation linked to flat face shapes such as those seen in pugs and bulldogs.The research reveals new insights into the genes that underpin skull formation in people and animals. Scientists say their findings also shed light on the causes of birth defects that affect babies' head development in the womb.Researchers at the University of Edinburgh's Roslin Institute analysed DNA samples from 374 pet dogs of various pedigree and mixed breeds. The dogs were being treated at the Royal (Dick) School of Veterinary Studies.All of the animals underwent body scans as part of their care, producing detailed 3-dimensional images of the dogs' heads.These high-resolution images - called CT scans - enabled the researchers to take precise measurements of the shape o

new gene discovered associated with tau, a common form of brain pathology

Investigators at Rush University Medical Center and the Brigham and Women's Hospital in Boston reported the discovery of a new gene that is associated with susceptibility to a common form of brain pathology called Tau that accumulates in several different conditions, including Alzheimer's disease, certain forms of dementia and Parkinsonian syndromes as well as chronic traumatic encephalopathy that occurs with repeated head injuries.Published in Molecular Psychiatry, the manuscript describes the identification and validation of a genetic variant within the protein tyrosine phosphatase receptor-type delta (PTPRD) gene."Aging leads to the accumulation of many different pathologies in the brain," said co-principal investigator Dr. David Bennett who directs the Alzheimer Disease Center at Rush.

stem cells help explain varied genetics behind rare neurologic disease

Researchers at Case Western Reserve University School of Medicine have successfully grown stem cells from children with a devastating neurological disease to help explain how different genetic backgrounds can cause common symptoms. The work sheds light on how certain brain disorders develop, and provides a framework for developing and testing new therapeutics. Medications that appear promising when exposed to the new cells could be precisely tailored to individual patients based on their genetic background.In the new study, published in The American Journal of Human Genetics, researchers used stem cells in their laboratory to simultaneously model different genetic scenarios that underlie neurologic disease. They identified individual and shared defects in the cells that could inform treatm

study reveals ways powerful 'master gene' regulates physical differences between

IMAGE: The study used beetles in the species Onthophagus taurus to learn about the role played by the dsx gene to "match " physical traits to males versus females.
view more Credit: Alex WildBLOOMINGTON, Ind. -- Physical differences between males and females in species are common, but there remains much to learn about the genetic mechanisms behind these differences. New research by scientists at Indiana University finds that the "master gene" that regulates these differences plays a complex role in matching the right physical trait to the right sex. The study, published Feb. 27 in the journal Nature Communications, reveals new details about the behavior of the gene called "doublesex," or dsx."We want to know more about this gene because it helps us answer a major question about developme

zika virus protein mapped to speed search for cure

A study published today shows how Indiana University scientists are speeding the path to new treatments for the Zika virus, an infectious disease linked to birth defects in infants in South and Central America and the United States.

an intriguing new gene candidate in the search for alzheimer disease therapies

Tau pathology is one of the defining features of Alzheimer disease (AD), which is the most common form of dementia in older age. While symptomatic treatments exist, there are currently no preventive therapies for AD. Investigators at BWH and Rush University Medical Center reported the discovery of a new gene that is associated with Tau accumulation. Published in Molecular Psychiatry, the paper describes the identification and validation of a genetic variant within the protein tyrosine phosphatase receptor-type delta (PTPRD) gene. Tau accumulates in several different conditions in addition to AD, including certain forms of dementia and Parkinsonian syndromes as well as chronic traumatic encephalopathy that occurs with repeated head injuries. "Aging leads to the accumulation of many differen

study examines impact of common risk factors on outcomes for home and birth cent

CORVALLIS, Ore. - Women with some characteristics commonly thought to increase pregnancy risks -- being over age 35; being overweight; and in some cases, having a vaginal birth after a cesarean section -- tend to have good outcomes when they give birth at home or in a birth center, a new assessment has found. However, women with some other risk factors, a breech baby and some other cases of vaginal birth after cesarean or VBAC, may face an increased risk of poor outcomes for themselves or their babies, researchers at Oregon State University have found. The study is believed to be the first to examine these risks and the outcomes. About 2 percent of all births in the U.S., and about 4 percent in Oregon, occur at home or in a birth center, rather than in a hospital setting. Generally, women

will aav vectors have a role in future novel gene therapy approaches?

IMAGE: Human Gene Therapy presents reports on the transfer and expression of genes in mammals, including humans.
view more Credit: Mary Ann Liebert, Inc., publishersNew Rochelle, NY, March 20, 2017--Recombinant adeno-associated virus (rAAV) vectors for delivering therapeutic genes have demonstrated their safety in multiple diseases and clinical settings over the years and are a proven and effective tool that can be used to deliver new gene editing and replacement and genome modification technologies. The combination of more tailored rAAV delivery vectors and new gene knockdown and editing techniques will enable unique approaches to the therapeutic manipulation of gene expression, as described in an article in Human Gene Therapy, a peer-reviewed journal from Mary Ann Liebert, Inc., publis

the scientists trying to keep zika out of your placenta

Because if scientists can prevent virus transmission in utero, they can prevent Zika's devastating birth defects. The post The Scientists Trying to Keep Zika Out of Your Placenta appeared first on WIRED.

simple dietary supplement may help block postpartum blues

EnlargeCDCShare this storyPostpartum blues are a common and healthy range of sadness that tends to peak five days after giving birth. But those blues are also a high-risk state for postpartum depression, which is the most common childbearing complication in the US. A recent paper in PNAS shows that dietary supplements intended to combat physiological changes that occur after giving birth are effective in reducing the sadness associated with postpartum blues. This dietary supplement reduced postpartum sadness and effectively cut the risk of postpartum depression.For psychiatrists, postpartum blues are considered the “prodrome” for postpartum depression. That means that increased postpartum blues signal the likely onset of postpartum depression. If the severity of the postpartum blues could

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