• Call: +971 50 824 6007
  • Email: info@londongenetics.co.uk
Blog
Blog

Expert: Keep up with latest discoveries through automated updates in reporting genetic test results

08 Aug 2019
Expert: Keep up with latest discoveries through automated updates in reporting genetic test results

A scientist in the Division of Genomic Diagnostics (DGD) at Children's Hospital of Philadelphia (CHOP) proposes a new model to generate ongoing automated updates to account for new evidence—and enable genetic counselors and physicians to better communicate clinically relevant information to patients and families, not just when the test results are initially reported, but for years to come as new knowledge accumulates.

"Since the Human Genome Project was completed, the flood of new genetic information and the accelerated pace of discovery represent a paradigm shift in the practice of clinical genetics," said Mahdi Sarmady, Ph.D., a genome informatics scientist and Director of Bioinformatics in the DGD. He points out, for instance, that clinical sequencing is increasingly being incorporated in pediatric clinics as a routine diagnostic tool.

Role of miRNA in the Transmission of Metabolic Diseases Associated With Paternal Diet-Induced Obesity

08 Aug 2019
Role of miRNA in the Transmission of Metabolic Diseases Associated With Paternal Diet-Induced Obesity

The concept of Developmental Origins of Health and Diseases (DOHaD) recognizes that an unfavorable maternal environment alters the developmental trajectory of the fetus and can lead to long-term risk of developing chronic noncommunicable diseases. More recently, the concept of a paternal transmission [Paternal Origins of Health and Diseases (POHaD)] has emerged stressing the impact of paternal overweight or obesity on offspring’s health and development. While very few examples of paternal epigenetic inheritance of metabolic disorders have been evidenced in human, many experimental mouse models based on high-fat diet (HFD)-induced paternal obesity have been developed to breakdown molecular mechanisms involved in the process.

Genetic and Epigenetic Studies in Diabetic Kidney Disease

08 Aug 2019
Genetic and Epigenetic Studies in Diabetic Kidney Disease

Chronic kidney disease is a worldwide health crisis, while diabetic kidney disease (DKD) has become the leading cause of end-stage renal disease (ESRD). DKD is a microvascular complication and occurs in 30–40% of diabetes patients. Epidemiological investigations and clinical observations on the familial clustering and heritability in DKD have highlighted an underlying genetic susceptibility. Furthermore, DKD is a progressive and long-term diabetic complication, in which epigenetic effects and environmental factors interact with an individual’s genetic background. In recent years, researchers have undertaken genetic and epigenetic studies of DKD in order to better understand its molecular mechanisms.

DNA Methylation of Five Core Circadian Genes Jointly Contributes to Glucose Metabolism: A Gene-Set Analysis in Monozygotic Twins

08 Aug 2019
DNA Methylation of Five Core Circadian Genes Jointly Contributes to Glucose Metabolism: A Gene-Set Analysis in Monozygotic Twins

The timing of daily fluctuations in blood glucose is tightly controlled by the circadian rhythm. DNA methylation accompanies the circadian clock, and aberrant DNA methylation has been associated with circadian disruption and hyperglycemia. However, the precise role of circadian genes methylation in glucose metabolism is unknown. Using a gene-set approach in monozygotic (MZ) twin pairs, we examined the joint effect of 77 CpGs in five core circadian genes (CLOCK, BMAL1, PER1, PER2, PER3) on glucose-related traits in 138 middle-aged, male-male MZ twins (69 pairs). DNA methylation was quantified by bisulfite pyrosequencing. We first conducted matched twin pair analysis to examine the association of single CpG methylation with glucose metabolism.

Combining Understanding of Immunological Mechanisms and Genetic Variants Toward Development of Personalized Medicine for Psoriasis Patients

08 Aug 2019
Combining Understanding of Immunological Mechanisms and Genetic Variants Toward Development of Personalized Medicine for Psoriasis Patients

Psoriasis is a chronic, inflammatory skin disorder involving hyperproliferation of epidermal keratinocytes and neo-angiogenesis (Griffiths, 2003; Lowes et al., 2014; Brembilla et al., 2018). This autoimmune disorder is multifactorial and inflammation is known to play a major role in its development. Immunohistochemistry studies have showed that T cells are predominantly found in psoriatic lesions (Griffiths, 2003). Activated Th1 and Th17 T cells (CD4+ T cells) and CD8+ T cells, as well as increased levels of cytokines such as IL-17, IL-23, TNF-α and IL-27, have been directly implicated in psoriasis immunopathogenesis (Luger and Loser, 2018). Interestingly, recent studies have shown that different genetic variations in psoriatic patients are associated with distinct disease phenotypes (Puig et al., 2014).

Genetic Variability of TCF4 in Schizophrenia of Southern Chinese Han Population: A Case-Control Study

08 Aug 2019
Genetic Variability of TCF4 in Schizophrenia of Southern Chinese Han Population: A Case-Control Study

Schizophrenia is thought to be a neurodevelopmental disorder. As a key regulator in the development of the central nervous system, transcription factor 4 (TCF4) has been shown to be involved in the pathogenesis of schizophrenia. The aim of our study was to assay the association of TCF4 single nucleotide polymorphisms (SNPs) with schizophrenia and the effect of these SNPs on phenotypic variability in schizophrenia in Southern Chinese Han Population.

Next-Generation in vivo Modeling of Human Cancers

08 Aug 2019
Next-Generation in vivo Modeling of Human Cancers

Animal models of human cancers played a major role in our current understanding of tumor biology. In pre-clinical oncology, animal models empowered drug target and biomarker discovery and validation. In turn, this resulted in improved care for cancer patients. In the quest for understanding and treating a diverse spectrum of cancer types, technological breakthroughs in genetic engineering and single cell “omics” offer tremendous potential to enhance the informative value of pre-clinical models. Here, I review the state-of-the-art in modeling human cancers with focus on animal models for human malignant gliomas. The review highlights the use of glioma models in dissecting mechanisms of tumor initiation, in the retrospective identification of tumor cell-of-origin

Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry

08 Aug 2019
Exploring the Clinical and Genetic Spectrum of Steroid Resistant Nephrotic Syndrome: The PodoNet Registry

Steroid resistant nephrotic syndrome (SRNS) is a rare condition, accounting for 10–15% of all children with idiopathic nephrotic syndrome. SRNS can be caused by genetic abnormalities or immune system dysfunction. The prognosis of SRNS varies from permanent remission to progression to end-stage kidney disease, and post-transplant recurrence is common.

The PodoNet registry project aims to explore the demographics and phenotypes of immune-mediated and genetic forms of childhood SRNS, to assess genotype-phenotype correlations, to evaluate clinical management and long-term outcomes, and to search for novel genetic entities and diagnostic and prognostic biomarkers in SRNS.

Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

08 Aug 2019
Multiple Endocrine Neoplasia Type 1 (MEN1): An Update and the Significance of Early Genetic and Clinical Diagnosis

Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumor syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. Other endocrine tumors in MEN1 include foregut carcinoid tumors, adrenocortical tumors, and rarely pheochromocytoma. Nonendocrine manifestations include meningiomas and ependymomas, lipomas, angiofibromas, collagenomas, and leiomyomas. MEN1 is caused by inactivating mutations of the tumor suppressor gene MEN1which encodes the protein menin. This syndrome can affect all age groups, with 17% of patients developing MEN1-associated tumors before 21 years of age.

Translating Genetic Research into Preventive Intervention: The Baseline Target Moderated Mediator Design

08 Aug 2019
Translating Genetic Research into Preventive Intervention: The Baseline Target Moderated Mediator Design

In this paper we present and discuss a novel research approach, the baseline target moderated mediation (BTMM) design, that holds substantial promise for advancing our understanding of how genetic research can inform prevention research. We first discuss how genetically informed research on developmental psychopathology can be used to identify potential intervention targets. We then describe the BTMM design, which employs moderated mediation within a longitudinal study to test whether baseline levels of intervention targets moderate the impact of the intervention on change in that target, and whether change in those targets mediates causal impact of preventive or treatment interventions on distal health outcomes.

DISCLAIMER:
All the information provided on the blog, including those in the form of pictures, diagrams, tabulations, and opinions, are for informational and representational purposes only. The blog only aims to furnish a basic understanding of issues and concepts related to health and medical care. Any mishaps occurring as a result of practicing procedures mentioned on the blog will be the practitioner’s sole responsibility. It is thereby advised to seek proper guidance of a professional healthcare provider with regard to shifting to a new health routine, undergoing medical procedures or treatments and/or consuming medicines not otherwise prescribed. It is also advised that readers should not welcome any delay in seeking professional medical help as this blog should not be considered as a substitute for legitimate professional healthcare. London Genetics does not endorse any medical tests, opinions, physicians, procedures or any other information stated on the blog.