• Its discovery was triggered by comparison of a patient with pancreatic neuroendocrine tumors, pancreatic α cell hyperplasia, extreme hyperglucagonemia but without glucagonoma syndrome, and occasional hypoglycemia , with the glucagon receptor knockout mice which exhibit similar phenotype and ultimately prove to be a model of Mahvash disease. (omicsonline.org)
  • In this project, we studied genome-wide mutation rates and their long-term effects on phenotype in more than 20 generations of wild-type C57BL/6 mice and mutator mice, which have high DNA replication error rates. (nii.ac.jp)
  • The mutation rate in mutator mice was 17 times that in wild-type mice. (nii.ac.jp)
  • Here, we studied synaptic plasticity phenomena and evaluated ERKs activation in the hippocampus of BALB/c NPC1−/− mice, a well described animal model of the disease. (hindawi.com)
  • Recent evidence derived from transgenic mice ubiquitously overexpressing mutant Cu 2+ /Zn 2+ superoxide dismutase (mSOD1), a chronic neurodegenerative model of inherited amyotrophic lateral sclerosis (ALS), indicates that glia with either a lack of or reduction in mSOD1 expression enhance motoneuron protection and slow disease progression. (pnas.org)
  • Here we show that when mSOD1 mice were bred with mice lacking functional T cells or CD4+ T cells, motoneuron disease was accelerated, accompanied by unexpected attenuated morphological markers of gliosis, increased mRNA levels for proinflammatory cytokines and NOX2, and decreased levels of trophic factors and glial glutamate transporters. (pnas.org)
  • Thus, to assess the role of T cells in a chronic neurodegenerative disease such as ALS, immunodeficient mice were bred with mSOD1 G93A transgenic mice and selective reconstitution experiments with bone marrow transplants (BMT) were used to elucidate the roles of T cells. (pnas.org)
  • To examine possible contributions of the peripheral immune system on disease progression, mSOD1 G93A /PU.1 −/− mice on a B6/SJL genetic background [ supporting information (SI) ] received BMT from CCR2 −/− mice lacking the receptor for monocyte-chemoattractant protein−1 (MCP-1/CCL2) ( 6 ). (pnas.org)
  • Animal models of various disorders can then be generated, for example, using transgenic mice. (tcd.ie)
  • To study the ocular disease without the complications of the kidney disease, naturally occurring point mutations of human CLDN19 were recreated in human induced pluripotent cells or overexpressed in the retinae of newborn mice. (nature.com)
  • In mice, the mutations diminish the P1 wave of the electroretinogram, activate apoptosis in the outer nuclear layer, and alter the morphology of bipolar cells. (nature.com)
  • This hypothesis has been confirmed by studies using mice models which have shown that the gut microbiota is likely to play a role in the development of oral tolerance. (intechopen.com)
  • The specific gut microbiota observed in mice with food allergy by Noval-Rivas et al was able of transmitting disease susceptibility to naive germ-free recipients [ 9 ]. (intechopen.com)
  • Importantly, in vivo studies using MPTP, LPS, or 6-OHDA models revealed a greater attenuation of neuroinflammatory responses in Fyn −/− and PKCδ −/− mice compared with wild-type mice. (jneurosci.org)
  • 10 In addition, the introduction of a Lac-Z reporter gene into neural crest cells of aganglionic mice has made it possible to study directly the fate of enteric neuroblasts which are affected by "Hirschsprung's-like" mutations. (bmj.com)
  • Identification of PD-associated LRRK2 mutations has led to the development of novel animal models, primarily in mice. (nih.gov)
  • In examining the effects of PD-associated mutations and risk factors on protein function, we found that conserved substitutions such as G2019S affect human and mouse LRRK2 proteins similarly, but variation around position 2385, which is not fully conserved between humans and mice, induces divergent in vitro behavior. (nih.gov)
  • These results have implications for disease modelling of LRRK2 mutations in mice and on the testing of pharmacological therapies in animals. (nih.gov)
  • Two years ago, we used the CRISPR material to introduce the mutation into liver cells in mice, via a virus. (scientificamerican.com)
  • Some mice with a genetic mutation for mahogany-colored coats also develop spongiform degeneration of brain tissue, similar to mad cow disease. (innovations-report.com)
  • Because of this oddity, the mice could be valuable animal models for human disorders, such as Parkinson's and Alzheimer's diseases, according to geneticists at Cornell and Stanford universities. (innovations-report.com)
  • Nor did the investigators find evidence of misshapen prion proteins (the cause of spongiform encephalopathies such as mad cow and mad elk diseases) in the mice, although they did see damage to the myelin sheaths around nerve cells. (innovations-report.com)
  • As an animal model, the mahoganoid mutant mice probably will not be useful to study spongiform encephalopathies like mad cow disease, Gunn believes, because rogue prions are not the cause of the mouse condition. (innovations-report.com)
  • But as an example of defective ubiquitination -- a protein-related process involved in many neurodegenerative disorders, including Parkinson's and Alzheimer's diseases -- the mahogany-colored mice with spongy brains could have real value, according to the Cornell scientist. (innovations-report.com)
  • Having uncovered a role for L-DOPA in congenital glaucoma, John showed that feeding the molecule to mice with a mutation in a human developmental glaucoma gene during gestation prevents the developmental abnormalities. (jax.org)
  • Likewise, the John lab recently showed that in mice genetically predisposed to glaucoma, Vitamin B3 added to drinking water prevents the disease when administered before symptoms occur, and reduces damage and vision loss in mice that have already developed symptoms. (jax.org)
  • The analytical techniques cover the purification of mtDNA from a variety of sources and the analysis of DNA for both deletions, point mutations, and damage, for replication intermediates, and for following the fate of mtDNA outside of the mitochondria. (springer.com)
  • CMT2B is caused by missense point mutations (L129F, K157N, N161T/I, V162M) in Rab7 GTPase. (mdpi.com)
  • Genetic research that will be published tomorrow in the New England Journal of Medicine suggests to Dr. André Lacroix, professor at the University of Montreal, that clinicians' understanding and treatment of a form of Cushing's syndrome affecting both adrenal glands will be fundamentally changed, and that moreover, it might be appropriate to begin screening for the genetic mutations that cause this form of the disease. (news-medical.net)
  • The genetic mutations that cause Sandhoff disease affect an enzyme that breaks down the sphingolipid GM2 ganglioside. (asbmb.org)
  • Only about 2 percent of ALS patients have familial disease linked to the SOD1 mutation. (lww.com)
  • Dr. Loeb added: "Even though we only studied rats with the SOD1 mutation, the concept may be more generalized such that if you have a known mutation or a genetic background that predisposes you to get ALS, there is a strong possibility that how you live your life or what you are exposed to can initiate the disease process. (lww.com)
  • To test that thesis, Dr. Loeb and his colleagues used a rat model with the human SOD1 mutation to assess whether peripheral nerve damage may play a role in starting and perhaps accelerating the ALS disease process. (lww.com)
  • Researchers found that dogs with DM also had mutations in their SOD1 gene. (eurekalert.org)
  • Many rodent models possess very high levels of the SOD1 protein that can produce pathologic processes distinct from those occurring in ALS patients. (eurekalert.org)
  • Since the SOD1 mutation is spontaneous in dogs, the clinical spectrum in dogs may represent more accurately that of human ALS. (eurekalert.org)
  • The study, "Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy which resembles amyotrophic lateral sclerosis," was published in the Proceedings of the National Academy of Sciences this week. (eurekalert.org)
  • It was found that models with high levels of mutant protein, overloaded mitochondria with high levels of SOD1-protein whereas models with wild type-like levels of mutant protein did not. (diva-portal.org)
  • The first mutation linked to familial ALS was found in the superoxide dismutase-1 (SOD1) protein 15 years ago, and ever since then scientists have been trying to use SOD1 mutations to model sporadic ALS. (alzforum.org)
  • In an Animal Model of ALS, Researchers Report Peripheral Ner. (lww.com)
  • Researchers from the University of Missouri and the Broad Institute have found that the genetic mutation responsible for degenerative myelopathy (DM) in dogs is the same mutation that causes amyotrophic lateral sclerosis (ALS), the human disease also known as Lou Gehrig's Disease. (eurekalert.org)
  • As a result of the discovery, which will be published in the Proceedings of the National Academy of Sciences this week, researchers can now use dogs with DM as animal models to help identify therapeutic interventions for curing the human disease, ALS. (eurekalert.org)
  • Children with Cushing syndrome may be at higher risk for suicide as well as for depression, anxiety and other mental health conditions long after their disease has been successfully treated, according to a study by researchers at the National Institutes of Health. (news-medical.net)
  • Ectopic tumours secreting corticotropin-releasing hormone and adrenocorticotropic hormone are very rare in children and can result in a misdiagnosis of Cushing's disease, say researchers. (news-medical.net)
  • The researchers investigated a number of different questions arising from this surprising result, using multiple animal models of ALS and focusing on motor neurons, the kind of neuron most affected in this disease. (medicalnewstoday.com)
  • In findings that support a relationship between agricultural chemicals and Parkinson s disease, two groups of researchers have found new evidence that loss of DJ-1, a gene known to be linked to inherited Parkinson s disease, leads to striking sensitivity to the herbicide paraquat and the insecticide rotenone. (innovations-report.com)
  • The fruit fly possesses two versions of the DJ-1 gene, and in the new work, the researchers simulated the human Parkinson s disease situation by deleting one or both forms of DJ-1 from the fly s DNA. (innovations-report.com)
  • Using in vitro fertilization, the researchers injected sperm retrieved from men with an MYBPC3 gene mutation into eggs retrieved from healthy women. (medicalnewstoday.com)
  • Although researchers have proposed various data mining models for biomedical approaches, there remains a challenge in accurately prioritizing the single nucleotide polymorphisms (SNP) associated with the disease. (frontiersin.org)
  • In the Journal of Lipid Research , researchers at the National Institute of Diabetes and Digestive and Kidney Diseases write about using patient-derived stem cells to grow simple miniaturized brains, called cerebral organoids, which more closely model fetal brains affected by Sandhoff disease. (asbmb.org)
  • The researchers, led by Richard Proia, compared the affected organoids with tissue from a deceased patient and with organoids with the disease mutation corrected by genome editing. (asbmb.org)
  • Comprehensive and timely, Mitochondrial DNA: Methods and Protocols offers both basic and clinical researchers proven cutting-edge methods for analyzing the role mtDNA plays in the aging process, apoptosis, and possibly some cancers, and for investigating the cause of mitochondrial dysfunction and disease. (springer.com)
  • Led by Christopher Shaw at King's College, the British-Australian researchers sequenced all six exons of the TDP-43 gene in 500 controls and 200 sporadic ALS cases (all of British descent) and found in one a missense mutation in exon 6, substituting lysine for glutamine (Q331K). (alzforum.org)
  • According to Mackenzie, this makes them even more interesting, and will help researchers zoom in on this region and look for further mutations that are harder to detect. (alzforum.org)
  • Disease-causing mutations can be identified through molecular mapping in human pedigrees. (tcd.ie)
  • 11. Molecular detection of some mutations associated with B-thalassaemia in Iraq. (plymouth.ac.uk)
  • Dr. Brian Stevenson, a Professor at the University of Kentucky's Department of Microbiology, Immunology and Molecular Genetics, has been awarded a grant to study the influence of a newly-discovered protein, called EbfC, on gene expression in Borrelia burgdorferi, the causative agent of Lyme disease. (bio-medicine.org)
  • Experiments using molecular models and cell lines in Harvey's group showed that these mutations resulted either in the loss or reduction of glycine uptake by GlyT2. (phys.org)
  • More recently, John and his team demonstrated a new analysis technique that detects early stages of glaucoma, and actually mitigated the disease by targeting some of the molecular events in those early stages. (jax.org)
  • Dominant mutations in the Cu 2+ /Zn 2+ superoxide dismutase (mSOD1) gene are the most frequent cause of inherited amyotrophic lateral sclerosis (ALS), an inexorably progressive and fatal neuromuscular disease, and current evidence suggests that motoneuron injury is non− cell-autonomous and involves damage caused by mSOD1 proteins within glia of the central nervous system (CNS) ( 1 - 4 ). (pnas.org)
  • Amyotrophic lateral sclerosis (ALS) is a devastating disease that affects people in their late mid-life, with fatal outcome usually within a few years. (diva-portal.org)
  • Working independently, a U.S. and a British-Australian team of geneticists both report this week that they have found mutations of the TAR DNA binding protein (TDP-43) in people with amyotrophic lateral sclerosis (ALS). (alzforum.org)
  • These models can be used to test gene therapy or stem cell replacement therapies. (tcd.ie)
  • New therapies for ulcerative colitis and Crohn's disease. (uab.edu)
  • The ultimate goal is to test promising therapies and to manage, prevent or cure neurodegenerative disease. (iospress.nl)
  • Mutations in thymidine kinase may induce HSV resistance to antiviral therapies in immunocompromised patients. (uniprot.org)
  • We need to go back to the earliest events that trigger the chain reaction that ultimately results in disease so we can focus new therapies on the cause, not the consequences. (rockefeller.edu)
  • Since 2013, efforts have focused on furthering development of animal models, vaccines, and therapies against MERS-CoV ( 11 , 12 ). (cdc.gov)
  • Optogenetic therapies bestow light-sensitivity (visual function) to surviving retinal cells after photoreceptors are lost to advanced retinal diseases such as retinitis pigmentosa, Usher syndrome, and age-related macular degeneration. (blindness.org)
  • Mutations in NPC1 and NPC2 give rise to severe abnormalities in the functioning of this transport system with excess storage of lipids as cholesterol, glycosphingolipids, and sphingosine in the late endosomal and lysosomal intracellular compartments, associated with peripheral and central organ dysfunction [ 2 ]. (hindawi.com)
  • To study the effects of a CLDN19 mutation in the absence of renal effects or effects on the peripheral nervous system, we followed three strategies. (nature.com)
  • Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling? (mdpi.com)
  • Liu H, Wu C. Charcot Marie Tooth 2B Peripheral Sensory Neuropathy: How Rab7 Mutations Impact NGF Signaling? (mdpi.com)
  • Such a treatment has the potential to help people with retinitis pigmentosa, Leber congenital amaurosis, and Usher syndrome by working independent of the patient's gene mutation. (blindness.org)
  • They also screened 172 Australian sporadic cases, 172 controls, and an additional 200 British controls, and found a mutation in one patient's exon 6 that substituted alanine for glycine (G294A). (alzforum.org)
  • Hypoxic epithelial necrosis triggers neutrophilic inflammation via IL-1 receptor signaling in cystic fibrosis lung disease Am J Respir Crit Care Med 2015 Jan 21. (uni-heidelberg.de)
  • For example, one well-known cause is mutation of the glycine receptor alpha1 subunit gene. (phys.org)
  • however, they have been shown to modulate microglial activation and provide neuroprotection in acute models of neuronal injury ( 10 - 16 ). (pnas.org)
  • Palmitoyl Protein Thioesterase 1 (PPT1) is an essential lysosomal protein in the mammalian nervous system whereby defects result in a fatal pediatric disease called Infantile Neuronal Ceroids Lipofuscinosis (INCL). (nih.gov)
  • Hirschsprung's disease is a neuronal dysplasia of the hindgut, characterised by a loss of neurones, which affects about 1 in 5000 live births. (bmj.com)
  • Neuroscience is a wonderful branch of science on how our brain perceives the external world, how our brain thinks, how our brain responds to the outside of the world, and how during disease or aging the neuronal connections deteriorate. (coursera.org)
  • The mechanism(s) via which dominant mutations in DNM2 cause myopathy, however, are incompletely understood. (biologists.org)
  • 1 Genetic factors have been implicated in the aetiology of this disease in about 20% of cases and a dominant pattern of inheritance has been revealed in several families. (bmj.com)
  • López-Corcuera said: "The mutation that we discovered is the first common dominant mutation in the GlyT2 gene," meaning that inheritance of a single defective copy of the gene causes disease. (phys.org)
  • A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2" by Cecilio Giménez, et al. (phys.org)
  • We show that the mutation results in defective membrane tubulation, and propose that one mechanism of disease is the interference of BIN1-mediated tubule formation and subsequent impairment of excitation-contraction coupling. (biologists.org)
  • In human induced pluripotent cells, we show that the mutation affects retinal neurogenesis and maturation of retinal pigment epithelium (RPE). (nature.com)
  • This article provides a protocol for characterizing frameshift mutations in zebrafish, and highlights the importance of checking mutations at the mRNA level and verifying their effects on translation by fluorescent reporters when antibody detection of protein loss is not possible. (biologists.org)
  • Most indels in protein-coding gene exons are predicted to be frameshift mutations that disrupt open reading frames with the obvious exception of those for which the size is a multiple of three. (biologists.org)
  • Reduced mSOD1 protein levels in astroglia have been shown to delay microglial activation and to sharply slow disease progression ( 5 ). (pnas.org)
  • The Batten disease Palmitoyl Protein Thioesterase 1 gene regulates neural specification and axon connectivity during Drosophila embryonic development. (nih.gov)
  • 2003). Through the years most investigators have favored model 1 because it is most frequently predicted by various protein structural software packages. (openwetware.org)
  • From 53 proteins finally identified, we found pathways such as mitochondrial function, oxidative stress, and protein degradation to be affected by the disease. (diva-portal.org)
  • Could this protein protect people against coronary artery disease? (innovations-report.com)
  • While we discuss the pros and cons associated with these methods known, we argue that the gene prioritization methods and the protein interaction (PPI) methods in conjunction with the K nearest neighbors' could be used in accurately categorizing the genetic factors in disease causation. (frontiersin.org)
  • The mutation takes the form of extra DNA, and causes the gene to produce a longer-than-normal protein. (rockefeller.edu)
  • These cells turned out to be very similar to those with Huntington's pathology, corroborating the idea that a lack of the protein-not an excess of it-is driving the disease. (rockefeller.edu)
  • All these mutations fell into a highly conserved region of TDP-43, near the glycerin-rich C terminal that scientists think is involved in protein-protein interactions. (alzforum.org)
  • All mutations are in exon 6, so it raises the hypothesis that there's something particular about that part of the protein that will affect processing or some other important aspect," Mackenzie said. (alzforum.org)
  • To date, however, only H. ducreyi mutants lacking expression of the peptidoglycan-asso-ciated lipoprotein ( 26 ), the hemoglobin-binding outer membrane protein HgbA ( 7 ), and the DsrA outer membrane protein ( 12 ) have been shown to exhibit reduced virulence in the human challenge model for experimental chancroid. (asm.org)
  • Cancer is also caused by sporadic or inherited mutations in DNA. (tcd.ie)
  • The scientists from the University of Illinois at Chicago found, however, that in the ALS animal model, a crush injury set in motion an inflammatory cascade-with enhanced glial activation-an immune response observed in studies of sporadic ALS. (lww.com)
  • The two studies were performed with the fruit fly Drosophila, a widely used model organism for studies of human disease, and shed new light on biological connections between inherited and sporadic forms of Parkinson s disease. (innovations-report.com)
  • However, upon exposure to widely used agricultural agents, including paraquat and rotenone, previously associated with the sporadic form of Parkinson s disease, the flies show strikingly increased sensitivity and death. (innovations-report.com)
  • JOB 2018-12-18 Employer Cornell University Principal Investigator Fenghua Hu Description A postdoc position is available in the Hu lab to study the role of lysosome dysfunction in ALS/FTLD caused by C9ORF72 and GRN mutations. (alzforum.org)
  • Should these functions be disrupted, we propose that the level of dysfunction dictates the disease phenotype (panel B). The common denominator in the bestrophinopathies is accumulation of lipofuscin, which could result from altered kinetics of phagocytosis uptake (panel B, 1), maturation (panel B, 2, 4), due to changes in acidification and/or delivery of lysosomal enzymes (E) (panel B, 2). (openwetware.org)
  • Mitochondrial pathology and dysfunction have been reported in both ALS patients and murine models. (diva-portal.org)
  • They analyzed DNA from eight families with ALS and 30 families with FTLD-U and found a missense mutation in exon 6 of the TDP-43 gene, where a threonine appeared instead of an alanine in amino acid position 315. (alzforum.org)
  • The second study, out today in Science, by scientists at King's College London, the University of Sydney, and the Northcott Neuroscience Laboratory at the ANZAC Research Institute in Australia, also found missense mutations within exon 6 of the TDP-43 gene. (alzforum.org)
  • Journal Article] Protocadherins in Neurological Diseases. (nii.ac.jp)
  • Neurological diseases afflict a growing proportion of the human population. (frontiersin.org)
  • In the last two decades the transplantation approach, by means of stem cells of different origin, has been suggested for the treatment of neurological diseases. (frontiersin.org)
  • Melatonin: A review of its potential functions and effects on neurological diseases. (medworm.com)
  • According to all of the beneficial results obtained from experimental and clinical trials, melatonin may have a prophylactic and therapeutic effect on neurological diseases. (medworm.com)
  • Strong collaboration between neurologists and health service policy makers is needed to encourage use of melatonin in the patients suffering from neurological diseases. (medworm.com)
  • This program is specifically directed at projects that include therapeutic leads with demonstrated activity against the intended disease target. (nih.gov)
  • The disease leads to advancing weakness and muscle atrophy, and culminates in paralysis and death. (eurekalert.org)
  • She directs the UCSF Tau Consortium Human Fibroblast and Induced Pluripotent Stem Cell (iPSC) Bank and leads the UCSF Alzheimer Disease Research Center (ADRC) Neurodegenerative Disease Biomarker Core. (ucsf.edu)
  • Also known as Lou Gehrig's disease, ALS afflicts some 30,000 Americans and often leads to death within a few years of diagnosis. (alzforum.org)
  • The Foundation Fighting Blindness has announced funding for seven new research projects to advance the development of treatments and cures for retinal degenerative diseases. (blindness.org)
  • Mutation screening of SLC52A3, C19orf12, and TARDBP in Iranian ALS patients. (alzforum.org)
  • Our study represents the largest multicenter screening study for GlyT2 mutations in hyperekplexia to date," the authors wrote in their paper. (phys.org)
  • First, establishment of comprehensive and efficient high-throughput screening setups will be challenging, although the rat has already been used for decades as the primary model organism in, for example, behavioral neurobiology, hypertension, and diabetes research. (genetics.org)
  • Babesiosis is a potentially serious tick-transmitted disease characterized by fever, chills, fatigue and anemia, and can be spread by blood transfusion as well as by ticks. (bio-medicine.org)
  • This work suggested that the conventional anticlotting treatments were potentially dangerous, while prenatal testing of infants for mutations in the COL4A1 gene, and Cesarean delivery of these at-risk babies, may increase their survival and even eliminate some disease features. (jax.org)
  • The newly identified genetic mutations affect how the signaling molecule glycine , which is responsible for sending messages between nerve cells , is both moved around and used in these cells. (phys.org)
  • We uncovered the genetic mutation of degenerative myelopathy, which has been unknown for 30 years, and linked it to ALS, a human disease that has no cure," said Joan Coates, a veterinary neurologist and associate professor of veterinary medicine and surgery in the MU College of Veterinary Medicine. (eurekalert.org)
  • We have used gene targeting to introduce the Muenke syndrome mutation (equivalent to P244R) into the murine Fgfr3 gene. (biomedsearch.com)
  • We conclude that although both cranial and long bone development is variably affected by the murine Fgfr3(P244R) mutation, coronal craniosynostosis is not reliably reproduced. (biomedsearch.com)
  • Neurofibrillary tangles in murine Niemann-Pick disease type C'Brain Pathology. (nii.ac.jp)
  • While it is a challenging task to identify the variants associated with inherited diseases through wet-lab based techniques, there is a need to find the causal effects of genetic changes associated with inherited diseases such as Autism, Schizophrenia, Bipolar disorder, etc. (frontiersin.org)
  • Progressive neurological deterioration and insurgence of symptoms like ataxia, seizure, and cognitive decline until severe dementia are pathognomonic features of the disease. (hindawi.com)
  • The disease is characterized by progressive neurological deterioration and the insurgence of symptoms like ataxia, seizure, and cognitive decline until severe dementia leading to premature death [ 2 , 3 ]. (hindawi.com)
  • Leisure activity and social integration mitigate the risk of dementia related to cardiometabolic diseases: A population-based longitudinal study. (medworm.com)
  • Animal models of dementia. (ucsf.edu)
  • The study was published in the April issue of Neurobiology of Disease . (lww.com)
  • Scientists have discovered a gene mutation that allows some people to consume high levels of fat and sugar without it affecting their cholesterol levels or raising the risk of a heart attack. (scientificamerican.com)
  • Dogs with DM are likely to provide scientists with a more reliable animal model for ALS. (eurekalert.org)
  • In a world first, scientists have used gene editing to successfully repair a disease-causing mutation in human embryos, which is an achievement that marks a major step forward for the prevention of inherited diseases. (medicalnewstoday.com)
  • In recent years, scientists have looked to gene editing as a way of eliminating disease-causing mutations. (medicalnewstoday.com)
  • With new findings, scientists may be poised to break a long impasse in research on Huntington's disease, a fatal hereditary disorder for which there is currently no treatment. (rockefeller.edu)
  • For example, scientists have not been able to resolve what function the HTT gene serves normally, or how its mutation creates problems in the brain. (rockefeller.edu)
  • This symposium will unite scientists from academia, industry and government to discuss best practices for rational drug repositioning by highlighting computational methods and big data mining, open collaboration, and initiatives for rare and neglected diseases. (nyas.org)
  • This is the first time scientists have found a mutation in TDP-43 linked to a dominantly inherited form of ALS. (alzforum.org)