Sentences with word «monogenic»

The Institute for Stem cell Therapy and Exploration of Monogenic diseases (I - Stem), established on 1st January 2005, is a research and development center dedicated to the development of treatments based on the potential offered by pluripotent stem cells and applicable to rare diseases of genetic origin.

Analysis of circulating cell - free fetal DNA (cff - DNA) in maternal plasma is very promising for early diagnosis of monogenic diseases.

In 2014, the researchers say, 32 % of prenatal diagnostic tests for monogenic disorders in their laboratory were non-invasive.

The analysis of cell free DNA in maternal plasma has led to widespread introduction of less invasive testing for aneuploidy, but less so for monogenic disorders.

Researchers at the Institute for Stem Cell Therapy and Exploration of Monogenic Diseases (I - Stem — Inserm / AFM / UEVE), in collaboration with CNRS and Paris Descartes University, have recently developed a new approach to better control the differentiation of human pluripotent stem cells, and thus produce different populations of motor neurons from these cells in only 14 days.

Gene - editing techniques such as CRISPR / Cas9 could potentially be applied to organoids derived from patients with monogenic defects, such as cystic fibrosis, polycystic kidney disease, microvillus inclusion disease and alpha1 - antitrypsin deficiency to generate healthy tissue for transplantation (17).

The University of Chicago Medicine's Kenneth Polonsky, MD, dean and executive vice president for medical affairs, and Graeme Bell, PhD, the Louis Block Distinguished Service Professor of Medicine and Human Genetics and an investigator in the Kovler Diabetes Center, played key roles in identifying and characterizing several causes of monogenic diabetes starting in the 1990s.

Epilepsy is a common neurological disorder, and mutations in genes encoding ion channels or neurotransmitter receptors are frequent causes of monogenic forms of epilepsy.

Loss - of - function mutations in ADCY3 cause monogenic severe obesity.

In order to non-invasively identify the fetal status in most cases of maternally - inherited monogenic disorders, we propose a strategy based on iterative collection of plasma samples during pregnancy, followed by droplet digital PCR experiments which allow to accurately quantify the probability for an allele to be mutant.

This EU document also has a bearing on the provision of molecular genetic diagnostics of rare monogenic diseases in Europe and beyond.

Monogenic Interferon (IFN)- mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN - response - gene - signature (IRS), inflammatory organ damage and high mortality.

09:05 KEYNOTE PRESENTATION: Extending the Scope of Prenatal Diagnosis for Monogenic Disorders: Non-Invasive Prenatal Diagnosis

The method potentially could help treat monogenic diseases, which result from modifications in a single gene occurring in all cells of the body.

The convertase project is highly relevant to obesity since PC1 / 3 has been found to be the third most important gene contributing to monogenic obesity.

Unlike monogenic diseases, which are caused by a single mutation in the genome, cardiovascular diseases belong to the group of complex diseases.

A tenured reader at the University of Cambridge in the United Kingdom at the time, Kenwrick had been looking for genes involved in X-linked monogenic diseases since her postdoctoral years.

The Microsatellite Center is a high - throughput genotyping laboratory dedicated to mapping monogenic and especially polygenic factors with linkage analysis by using fluorescent detection of microsatellites.

Wells and his colleagues have a particular interest in finding new treatments for genetic forms of diseases like monogenic diabetes and Hirschsprung's disease.

Think what could be done to treat, for example, particular oncogenes or hereditary monogenic diseases, just to name a few.

«It's not monogenic, there are many genes involved,» Sharma says of type 1 diabetes, a condition that affects 1 in 300 people in the United States by age 18, according to the National Institutes of Health.

Even for genes whose role in highly penetrant monogenic disorders has been well established, sequencing will reveal many variants of unknown significance.

With more than 18 years of experience in drug discovery working on molecular mechanisms underlying monogenic and multigenic metabolic and fibrotic disorders as well as hematologic malignancies, Dr. Martini's laboratory is focused on identifying novel therapies and applying translational approaches for drug development in rare genetic disorders.

The model could therefore be used to identify molecular mechanisms with the most clinical relevance, or to help us understand the pathogenesis of different monogenic forms of NS.

Even among classic monogenic Mendelian diseases, there's a surprising amount of heterogeneity in terms of causal mutations, causal genes, inheritance patterns, and clinical presentation.

Research into monogenic disorders still prospers.

Genes were chosen based on monogenic disorders for which epilepsy is a key feature according to the Online Mendelian Inheritance in Man (OMIM) database.

During the congress» Innovation Summit - Retinal cell and Gene Therapy» in Seattle on April 28th and 29th, 2016, in the margins of the meeting ARVO, Christelle Monville, Professor at the» Université d'Evry Val d'Essonne» (UEVE), presented the advances of the cell therapy program» STREAM» (Stem cell Therapy for Retinal Epithelium replacement Assay in Monogenic retinopathies) led by her team in I - Stem.

Gene therapy is a promising approach for treating a large spectrum of human diseases and particularly monogenic diseases that can be corrected through gene replacement therapy based on introducing a functional copy of the defective gene.

We have continued our work on the extension phase of the study, which includes: recruitment of additional African American participants into the sequencing arm and re-phenotyping of participants with monogenic findings.

The primary focus of the research teams has been targeting several monogenic diseases.

Stitzel and his team showed that HADH is also expressed by delta cells and that delta cell dysfunction might be a previously unrecognized contributing factor to monogenic diabetic disorders.

LPL is a pivotal player in TG metabolism, as mutations in LPL or in its cofactors (ApoC - II, glycosylphosphatidylinositol - anchored high - density lipoprotein — binding protein 1, lipase maturation factor 1) account for the majority of monogenic hypertriglyceridemia cases (25).

Most of the research has been conducted using type 1 or monogenic type 2 diabetes models, like the db / db mouse strain BKS.Cg - Dock7m + / + Leprdb / J.

Mutations for monogenic epilepsies have been found primarily in genes coding for ion channels 32 as well as in two different proteins that may be involved in neurogenesis 33.

A team of researchers led by Anselme Perrier of the Institute of Stem Cells forthe Treatment and Study of Monogenic Diseases (I - Stem), has just succeeded in performing a first graft of human embryonic stem cells in an animal model for Huntington's disease.

In addition, our specialists provide care for less common forms of diabetes such as inherited monogenic diabetes and maturity onset diabetes of the young (MODY diabetes).

Our Rare Disease Drug Development Model Cydan is focused on accelerating meaningful therapies for people with rare monogenic, non-oncologic diseases.

July 18, 2013 Genetic diabetes experts gather for «Celebrating Miracles & Milestones» Family Forum The 2nd annual «Celebrating Miracles & Milestones: 2013 Monogenic Diabetes Family Forum,» hosted by the University of Chicago Medicine's Kovler Diabetes Center, will take place on Wednesday, July 17, to Saturday, July 20, at the Chicago Marriott at 540 N. Michigan Ave.

Monogenic Interferon (IFN)- mediated autoinflammatory diseases present in infancy with systemic inflammation, an IFN - response - gene - signature (IRS), inflammatory organ damage and high...

09:35 Non-Invasive Prenatal Diagnosis of Maternally - Inherited Monogenic Disorders by Droplet Digital PCR Combined with Uniformly Most Powerful Likelihood Ratio Test

Ms. Wojtal: I am looking at how we can apply the CRISPR / Cas9 system to treat monogenic disorders - specifically editing pathogenic mutations such as duplications, as well as modulating disease modifier genes.

Identification of new pathological biomarkers for monogenic diseases using a functional genomic approach.