The progress of high - throughput postgenomic technologies has led to better understanding of
human disorders at the molecular level.
Not exact matches
Managers killed those programs (including one highly anticipated drug aimed
at coronary
disorders that was about to head into
human trials) and prioritized others where there was a clear genetic target for the drug.
In making a decision regarding research into
human cloning, we must pay close attention to the benefits it would provide for those who suffer the worst genetic
disorders; we must look closely
at the possibility of some groups or individuals being exploited or neglected through
human cloning; and we must keep before us the welfare of the children who would enter the world through cloning.
This shows itself
at a higher level in
disordered human behaviours, implying psychological illness.
Identifying such players can eventually assist in isolating pathogenic variants or regulatory elements that can be
at the root of
human hearing and balance
disorders.»
The experience inspired young Dr. Ostrer's decision to specialize in medical genetics; he went on to become the director of the
Human Genetics Program
at the New York University School of Medicine, where he championed DNA testing for Jews» genetic
disorders.
A team of researchers
at the Stanford University School of Medicine has used a gene - editing tool known as CRISPR to repair the gene that causes sickle cell disease in
human stem cells, which they say is a key step toward developing a gene therapy for the
disorder.
«The study results elucidate the molecular mechanisms underlying disease progression in multiple sclerosis models, providing a basis for future clinical trials to determine safety and efficacy of these chemical agents in
humans with demyelinating
disorders,» says Patrizia Casaccia, MD, PhD, Professor of Neuroscience, Genetics and Genomic Sciences
at Mount Sinai and senior author of the study.
If dozens of
human and animal studies published over the past six years are borne out by large clinical trials, nicotine — freed
at last of its noxious host, tobacco, and delivered instead by chewing gum or transdermal patch — may prove to be a weirdly, improbably effective drug for relieving or preventing a variety of neurological
disorders, including Parkinson's disease, mild cognitive impairment (MCI), Tourette's and schizophrenia.
Collaborators from the
Human Genetics Department
at the University Hospital of Jena, PD Ingo Kurth and Professor Christian Hübner, already demonstrated in 2009 that mutations in FAM134B cause the death of sensory neurons in a
disorder called hereditary sensory and autonomic neuropathy type II (HSAN II).
A neuroscientist
at Rutgers University - Newark says the
human brain operates much the same whether active or
at rest — a finding that could provide a better understanding of schizophrenia, bipolar
disorder and other serious mental health conditions that afflict an estimated 13.6 million Americans.
«The imaging technique could shed light on the immune dysfunction that underpins a broad range of neuroinflammatory diseases, such as Alzheimer's disease, depression, post-traumatic stress
disorder and addiction,» said Christine Sandiego, PhD, lead author of the study and a researcher from the department of psychiatry
at the Yale School of Medicine in New Haven, Conn. «This is the first
human study that accurately measures this immune response in the brain.
Among those is canine compulsive
disorder (CCD), the counterpart to
human obsessive compulsive
disorder (OCD),» says the study's first and corresponding author Nicholas Dodman, BVMS, DACVA, DACVB, professor in clinical sciences and section head and program director of animal behavior
at Cummings School of Veterinary Medicine
at Tufts University.
Can we imagine a probiotic therapy for brain
disorders in
humans,
at least to alleviate some symptoms?
Additionally, 2013 MRI research from Cummings School of Veterinary Medicine
at Tufts University and McLean Imaging Center
at McLean Hospital showed that the structural brain abnormalities of Doberman pinschers afflicted with canine compulsive
disorder (CCD) were similar to those of
humans with OCD.
Now, a new study in mice shows how a gene, called FOXP2, implicated in a language
disorder may have changed between
humans and chimps to make learning to speak possible — or
at least a little easier.
Advances in our ability to tweak the
human genome using CRISPR Cas - 9 and similar techniques won't only affect those
at risk of genetic
disorders.
Brain Institute demonstrates in songbirds the necessity of this neural circuit to learn vocalizations
at a young age, a finding that expands the scientific understanding of some contributing factors in speech
disorders in
humans.
Professor Takao Hamakubo's group
at the Department of Quantitative Biology and Medicine, Research Center for Advanced Science and Technology (RCAST), have shown that PTX3 forms strong bonds with histones and partially unfolds, leading to a
disordered coaggregation of histone and PTX3 and protecting
human endothelial cells from damage.
In a study spanning molecular genetics, stem cells and the sciences of both brain and behavior, researchers
at University of California San Diego, with colleagues
at the Salk Institute of Biological Studies and elsewhere, have created a neurodevelopmental model of a rare genetic
disorder that may provide new insights into the underlying neurobiology of the
human social brain.
Elisabeth Gillis, MSc, a PhD student in the Centre for Medical Genetics
at Antwerp University Hospital, Antwerp, Belgium, will tell the annual conference of the European Society of
Human Genetics that she and colleagues from seven other countries are the first to link this particular genetic mutation to serious aortic
disorders.
Blue Light Delays Sleep As recently as the 1980s, researchers assumed the
human sleep - wake cycle was not sensitive to light, recalls Charles Czeisler, chief of the sleep and circadian
disorders division
at Brigham and Women's Hospital.
Already studies on WS have spurred investigators to think about new ways of looking
at common
disorders of
human aging.
«We initiated the Great Ape Aging Project 20 years ago because we saw an aging chimpanzee population under
human care that would need geriatric attention for
disorders similar to those affecting aging
humans,» said Joseph Erwin, Ph.D., research professor of anthropology
at the George Washington University.
New results reported in this week's Science and
at a genome meeting held last week
at Cold Spring Harbor Laboratory on New York's Long Island suggest that our pedigreed canine companions may be a major help in finding the genetic keys to common
human afflictions such as cancer, diabetes, and mental
disorders.
«In the future, such efforts could allow us to much better understand
human - microbiome interactions, model malnutrition
disorders and inflammatory diseases of the gut, and perform personalized drug testing,» said co-first author Alessio Tovaglieri, a Graduate Student
at the Department of Health Science and Technology
at ETH Zurich in Switzerland, who performs his thesis work on Ingber's team.
The study helps explain a distinctly
human mechanism of cognition, said the lead researchers
at Brown University, and could be applied to studying and treating reward - seeking or punishment - avoidance conditions such as addiction or obsessive - compulsive
disorder.
The genetic causes of bipolar
disorder are highly complex and likely involve many different genes, said Carrie Bearden, a senior author of the study and an associate professor of psychiatry and psychology
at the UCLA Semel Institute for Neuroscience and
Human Behavior.
«Unfortunately, there are no preventive therapies for any common
disorder of the
human nervous system — Alzheimer's, Parkinson's, schizophrenia, epilepsy — with the exception of blood pressure - lowering drugs to reduce the likelihood of stroke,» said study author James O. McNamara, M.D., professor of neurobiology
at Duke Medicine.
«This program reaches an extremely vulnerable population
at an extremely vulnerable time with the best treatment available for opioid use
disorder,» said study co-author Dr. Josiah «Jody» Rich, professor of medicine and epidemiology
at Brown University and director of the Center for Prisoner Health and
Human Rights
at The Miriam Hospital in Providence.
Researchers have developed a «global
human metabolic network» that could pave the way for new treatments aimed
at disorders like diabetes and high cholesterol
«Future studies on how PAF / PAFR signaling controls UCP1 levels through beta3 - AR production in the BAT of animals and
humans may reveal new therapeutic targets to treat metabolic
disorders associated with obesity,» said Junko Sugatani, Ph.D., a researcher involved in the work from the Department of Pharmaco - Biochemistry
at the School of Pharmaceutical Sciences
at the University of Shizuoka in Shizuoka, Japan.
A chance meeting with Dr. James R. Lupski, the Cullen Professor and Vice Chair of Molecular and
Human Genetics and professor of pediatrics
at Baylor,
at a medical meeting in Istanbul, Turkey would lead to Karaca's recruitment as a trainee in Lupski's lab where the research took off and eventually the team unveiled new clues about the genetic malfunction that may be causing the
disorder in these families.
Vikram Patel, Professor of International Mental Health
at the London School of Hygiene & Tropical Medicine, said: «This review's primary message is that non-specialist health workers have an important role to play in delivering interventions for a range of mental
disorders and can thereby play a key role in addressing the
human resource shortages in mental health care in low - and middle - income countries.»
Using whole exome sequencing (a next generation test to analyze the exons or coding regions of thousands of genes simultaneously) conducted
at the Baylor College of Medicine
Human Genome Sequencing Center, the researchers identified CLP1 mutations in two unrelated families with the
disorder.
«Mouse behavior isn't the same as
human behavior, so we need to be cautious, but we were surprised and heartened by the fact that the mutant mice responded to lithium treatment — a gold standard for treating
human bipolar
disorder and alleviating features of mania and depression,» says Christopher Ross, M.D., Ph.D., professor of psychiatry and behavioral sciences
at the Johns Hopkins University School of Medicine.
«This is the first
human disorder associated with the gene CLP1,» said Dr. Ender Karaca, post-doctoral associate in the department of molecular and
human genetics
at Baylor.
The university recently received international attention after a group of 16 scientists based
at the Key Laboratory of Gene Engineering published the results of a controversial experiment in which they genetically modified single - cell
human embryos to repair the
human β - globin (HBB) gene in a procedure aimed
at preventing a serious blood
disorder (www.sciencemag.org/content/348/6234/486.full).
If the «substrate - selective» COX - 2 inhibitors developed
at Vanderbilt also work in
humans without side effects, they could represent a new approach to treating mood and anxiety
disorders, the researchers conclude in a paper to be posted online Sunday in the journal Nature Neuroscience.
In a first - of - its - kind effort to illuminate the biochemical impact of trauma, researchers
at NYU Langone Medical Center have discovered a connection between the quantity of cannabinoid receptors in the
human brain, known as CB1 receptors, and post-traumatic stress
disorder, the chronic, disabling condition that can plague trauma victims with flashbacks, nightmares and emotional instability.
Those who advocate the idea that
human language has genetic origins will take heart
at a new discovery: University of Oxford researchers have pinpointed a genetic mutation that seems to be responsible for a rare speech and language
disorder.
«This study shows how translational research using basic science techniques in animal models can elucidate the underlying basis of
human emotions and reasons for mental
disorders, thereby pointing the way for treatment development,» says Jeffrey Lieberman, MD, Lawrence C. Kolb Professor and Chair of Psychiatry
at CUIMC.
Still, Dudley feels that evolutionary genetic analysis can help identify the most relevant genes and pathological mechanisms
at play in schizophrenia and possibly other mental illnesses that preferentially affect
humans — that is, neurodevelopmental
disorders related to higher cognition and GABA activity, including autism and attention - deficit / hyperactivity
disorder.
«This is the first instance I am aware of where an academic drug discovery group moved a molecule designed to hopefully treat a chronic brain
disorder all the way from early discovery to
human trials without there being,
at some point along the way, a pharmaceutical partner,» said P. Jeffrey Conn, Ph.D., Lee E. Limbird Professor of Pharmacology in the Vanderbilt University School of Medicine and director of the Vanderbilt Center for Neuroscience Drug Discovery (VCNDD).
«We initiated the Great Ape Aging Project 20 years ago because we saw an ageing chimpanzee population under
human care that would need geriatric attention for
disorders similar to those affecting ageing
humans,» said Dr. Joseph Erwin, research professor of anthropology
at the George Washington University.
Stavros Lomvardas (University of California, San Francisco; nominated whilst
at Columbia University)-- Neuroscientist Dr. Lomvardas» research may provide clues to
human neurodegenerative
disorders such as Alzheimer's.
A lifelong philanthropist and advocate for research, Mrs. Davis and her family established the Davis Chair in
Human Genetics
at Cold Spring Harbor Laboratory to focus on uncovering the roots of genetic
disorders.
It should be noted that the 7th Pan Arab
Human Genetics Conference will be held from 18 to 20 January 2018 at Conrad hotel in Dubai, and will discuss the Omics Era through 4 main topics: precision medicine, big data in human genetics, genomics of multifactorial disorders, and the current trend in human genetics scie
Human Genetics Conference will be held from 18 to 20 January 2018
at Conrad hotel in Dubai, and will discuss the Omics Era through 4 main topics: precision medicine, big data in
human genetics, genomics of multifactorial disorders, and the current trend in human genetics scie
human genetics, genomics of multifactorial
disorders, and the current trend in
human genetics scie
human genetics sciences.
Now researchers
at UC San Francisco have taken the first step toward a comprehensive atlas of gene expression in cells across the developing
human brain, making available new insights into how specific cells and gene networks contribute to building this most complex of organs, and serving as a resource for researchers around the world to study the interplay between these genetic programs and neurodevelopmental
disorders such as autism, intellectual disability and schizophrenia.
Back when stem cells were first extracted from
human embryos 20 years ago, scientists were fascinated
at their ability to change into any type of cell in the body and thought they would soon be used to treat all types of diseases, from eye
disorders to diabetes.