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Genetics, genomics, translational medicine

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Howard Jacob is best known for pioneering genomic sequencing of a patient to solve a mysterious pediatric case in 2010. With roots in pharmacology and cardiovascular disease, however, his career has largely been dedicated to dissecting the physiology and genetics of the rat to help understand complex human diseases. Howard was Director of the Human and Molecular Genetics Center at the Medical College of Wisconsin for 16 years, during which time he applied a combination of approaches, including quantitative genetics, integrative physiology and next-generation sequencing, in rat models to shed light on cardiovascular, metabolic and renal disorders...
October 1, 2016: Disease Models & Mechanisms
Henrik Aronsson, Petter Larsson, Sandra Bains
Higher plants have been used in medicine throughout human history. While traditional medicinal uses relied on compounds produced naturally by plants, recent advances have enabled the use of plant-based factories to produce diverse agents including pharmaceuticals, antibiotics, and vaccines. The genes responsible for the production of these substances can be either transiently expressed in plants or integrated into their nuclear genome or plastid genome (plastome) by genetic transformation. This review focuses on the application of plastid transformation of higher plants to produce biopharmaceuticals for human applications that are neither antibiotics nor vaccines...
October 4, 2016: Mini Reviews in Medicinal Chemistry
Mohamed Zaiou, Hamid El Amri
Cardiovascular disease (CVD) is the leading cause of death worldwide. The basic causes of CVD are not fully understood yet. Substantial evidence suggests that genetic predisposition plays a vital role in the physiopathology of this complex disease. Hence, identification of genetic contributors to CVD will likely add diagnostic accuracy and better prediction of an individual's risk. With high-throughput genetics and genomics technology and newer genome-wide study approaches, a number of genetic variations across the human genome were uncovered...
October 6, 2016: Clinical Genetics
Andrea Farkas Patenaude, Katherine A Schneider
The defining difference between genetic and traditional medicine is that genetic findings have implications not just for the patient, but also for their relatives. Discussion of a test result between parent and child is both a transformative and a translational moment in the life of a family. Parents report wanting help in talking to their children. The challenge for genetic counselors and other providers is to be able to recognize which issues are at the core of parental distress and be able to offer recommendations to empower and support parents...
October 3, 2016: Journal of Genetic Counseling
Joanne Trinh, Emil K Gustavsson, Carles Vilariño-Güell, Stephanie Bortnick, Jeanne Latourelle, Marna B McKenzie, Chelsea Szu Tu, Ekaterina Nosova, Jaskaran Khinda, Austen Milnerwood, Suzanne Lesage, Alexis Brice, Meriem Tazir, Jan O Aasly, Laura Parkkinen, Hazal Haytural, Tatiana Foroud, Richard H Myers, Samia Ben Sassi, Emna Hentati, Fatma Nabli, Emna Farhat, Rim Amouri, Fayçal Hentati, Matthew J Farrer
BACKGROUND: Leucine-rich repeat kinase 2 (LRRK2) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13-30% in Ashkenazi Jewish populations, and 30-40% in North African Arab-Berber populations, although age of onset is variable. Some carriers have early-onset parkinsonism, whereas others remain asymptomatic despite advanced age. We aimed to use a genome-wide approach to identify genetic variability that directly affects LRRK2 Gly2019Ser penetrance...
November 2016: Lancet Neurology
Eric W F W Alton, A Christopher Boyd, Jane C Davies, Deborah R Gill, Uta Griesenbach, Patrick T Harrison, Noreen Henig, Tracy Higgins, Stephen C Hyde, J Alastair Innes, Michael S D Korman
Since identification of the CFTR gene over 25 years ago, gene therapy for cystic fibrosis (CF) has been actively developed. More recently gene therapy has been joined by other forms of "genetic medicines" including mRNA delivery, as well as genome editing and mRNA repair-based strategies. Proof-of-concept that gene therapy can stabilize the progression of CF lung disease has recently been established in a Phase IIb trial. An early phase study to assess the safety and explore efficacy of CFTR mRNA repair is ongoing, while mRNA delivery and genome editing-based strategies are currently at the pre-clinical phase of development...
October 2016: Pediatric Pulmonology
Anna Dominiczak
Human primary or essential hypertension is a complex, polygenic trait with some 50% contribution from genes and environment. Richard Lifton and colleagues provided elegant dissection of several rare Mendelian forms of hypertension, exemplified by the glucocorticoid remediable aldosteronism and Liddle's syndrome. These discoveries illustrate that a single gene mutation can explain the entire pathogenesis of severe, early onset hypertension as well as dictating the best treatment.The dissection of the much more common polygenic hypertension has proven much more difficult...
September 2016: Journal of Hypertension
James Kehler, Marianna Greco, Valentina Martino, Manickam Pachiappan, Hiroko Yokoe, Alice Chen, Miranda Yang, Joel Jessee, Martin Gotte, Luciano Milanesi, Alberto Albertini, Gianfranco Bellipanni, Ileana Zucchi, Rolland A Reinbold, Antonio Giordano
Cellular reprogramming by epigenomic remodeling of chromatin holds great promise in the field of human regenerative medicine. As an example, human induced Pluripotent Stem Cells (iPSCs) obtained by reprograming of patient somatic cells are sufficiently similar to embryonic stem cells (ESCs) and can generate all cell types of the human body. Clinical use of iPSCs is dependent on methods that do not utilize genome altering transgenic technologies that are potentially unsafe and ethically unacceptable. Transient delivery of exogenous RNA into cells provides a safer reprogramming system to transgenic approaches that rely on exogenous DNA or viral vectors...
September 15, 2016: Journal of Cellular Physiology
June C Carroll, Roland Grad, Judith E Allanson, Pierre Pluye, Joanne A Permaul, Nicholas Pimlott, Brenda J Wilson
INTRODUCTION: Primary care providers (PCP) will need to be integrally involved in the delivery of genomic medicine. The GenetiKit trial demonstrated effectiveness of a knowledge translation intervention on family physicians' (FP) genetics referral decision-making. Most wanted to continue receiving Gene Messengers (GM), evidence-based summaries of new genetic tests with primary care recommendations. Our objective was to determine the value of GMs as a continuing education (CE) strategy in genomic medicine for FPs...
2016: Journal of Continuing Education in the Health Professions
Sheila V Kusnoor, Taneya Y Koonce, Mia A Levy, Christine M Lovly, Helen M Naylor, Ingrid A Anderson, Christine M Micheel, Sheau-Chiann Chen, Fei Ye, Nunzia B Giuse
This study tested an innovative model for creating consumer-level content about precision medicine based on health literacy and learning style principles. "Knowledge pearl" videos, incorporating multiple learning modalities, were created to explain genetic and cancer medicine concepts. Cancer patients and caregivers (n=117) were randomized to view professional-level content directly from the My Cancer Genome (MCG) website (Group A; control), content from MCG with knowledge pearls embedded (Group B), or a consumer translation, targeted at the sixth grade level, with knowledge pearls embedded (Group C)...
2016: AMIA Summits on Translational Science Proceedings
Usha Panchapakesan, Carol Pollock
Diabetic kidney disease (DKD) is escalating and is the major cause of end stage kidney failure. There is increasing evidence to support the role of epigenetic factors and metabolic memory in linking the environmental and genetic causes of this disease. Although our understanding of this disease has improved, there has been no significant efficacious therapeutic translation in the last decade. Current sequencing technology has allowed interrogation of the human transcriptome. It is evident that although approximately 80% of the genome is transcribed, only 1-2% is read and coded into protein...
September 1, 2016: Clinical Science (1979-)
Tommaso A Dragani, Antoni Castells, Vathany Kulasingam, Eleftherios P Diamandis, Helena Earl, Wade T Iams, Christine M Lovly, J P Michiel Sedelaar, Jack A Schalken
Translational oncology represents a bridge between basic research and clinical practice in cancer medicine. Today, translational research in oncology benefits from an abundance of knowledge resulting from genome-scale studies regarding the molecular pathways involved in tumorigenesis. In this Forum article, we highlight the state of the art of translational oncology in five major cancer types. We illustrate the use of molecular profiling to subtype colorectal cancer for both diagnosis and treatment, and summarize the results of a nationwide screening program for ovarian cancer based on detection of a tumor biomarker in serum...
2016: BMC Medicine
Ahmet F Coskun, Umut Eser, Saiful Islam
A single cell creates surprising heterogeneity in a multicellular organism. While every organismal cell shares almost an identical genome, molecular interactions in cells alter the use of DNA sequences to modulate the gene of interest for specialization of cellular functions. Each cell gains a unique identity through molecular coding across the DNA, RNA, and protein conversions. On the other hand, loss of cellular identity leads to critical diseases such as cancer. Most cell identity dissection studies are based on bulk molecular assays that mask differences in individual cells...
October 20, 2016: Molecular BioSystems
Sangmoon Lee, Murim Choi
Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options...
June 2016: Genomics & Informatics
Michelle M Kim, Abhijit Parolia, Mark P Dunphy, Sriram Venneti
The revolution in cancer genomics has uncovered a variety of clinically relevant mutations in primary brain tumours, creating an urgent need to develop non-invasive imaging biomarkers to assess and integrate this genetic information into the clinical management of patients. Metabolic reprogramming is a central hallmark of cancer, including brain tumours; indeed, many of the molecular pathways implicated in the pathogenesis of brain tumours result in reprogramming of metabolism. This relationship provides the opportunity to devise in vivo metabolic imaging modalities to improve diagnosis, patient stratification, and monitoring of treatment response...
July 19, 2016: Nature Reviews. Clinical Oncology
Deborah Cragun, Courtney Lewis, Lucia Camperlengo, Tuya Pal
This article introduces the identification, prevention, and treatment of hereditary cancer as an important public health concern. Hereditary cancer research and educational outreach activities are used to illustrate how public health functions can help to achieve health benefits of genetic and genomic medicine. First, we evaluate genetic service delivery through triangulating patient and provider survey results which reveal variability among providers in hereditary cancer knowledge and genetic service provision...
2016: Healthcare (Basel, Switzerland)
Martine Vaxillaire, Philippe Froguel
Various forms of early-onset non-autoimmune diabetes are recognized as monogenic diseases, each subtype being caused by a single highly penetrant gene defect at the individual level. Monogenic diabetes (MD) is clinically and genetically heterogeneous, including maturity-onset diabetes of the young (MODY), infancy-onset and neonatal diabetes mellitus, which are characterized by functional defects of insulin-producing pancreatic β-cells and hyperglycemia early in life. Depending on the genetic cause, MD differs in ages at diabetes onset, the severity of hyperglycemia, long-term diabetic complications and extra-pancreatic manifestations...
July 7, 2016: Journal of Diabetes
Carol Isaacson Barash
While genomics, and other omics, research is rapidly advancing in the US and Europe, progress has been slower in less resourced countries. The imbalance has given rise to concern about whether the benefits of these advances, namely new and better tests, treatments, risk identification, and prevention strategies, will be shared and available to those living in less resourced reaches of the globe. In effort to give voice to researchers, an informal survey about barriers to advancing translational medicine was administered to attendees of the 11th Asia Pacific Conference on Human Genetics, 2015, Hanoi...
June 2016: Applied & Translational Genomics
Daniel R Brown, Leigh Ann Samsa, Li Qian, Jiandong Liu
Animal models of cardiovascular disease are key players in the translational medicine pipeline used to define the conserved genetic and molecular basis of disease. Congenital heart diseases (CHDs) are the most common type of human birth defect and feature structural abnormalities that arise during cardiac development and maturation. The zebrafish, Danio rerio, is a valuable vertebrate model organism, offering advantages over traditional mammalian models. These advantages include the rapid, stereotyped and external development of transparent embryos produced in large numbers from inexpensively housed adults, vast capacity for genetic manipulation, and amenability to high-throughput screening...
June 2016: Journal of Cardiovascular Development and Disease
Sriyans Jain, Nirav Thakkar, Jagamohan Chhatai, Manika Pal Bhadra, Utpal Bhadra
In recent years, long non-coding RNAs (lncRNAs) have attracted the attention of researchers with their involvement in all facets of life. LncRNAs are transcripts of more than 200 nucleotides which lack defined protein coding potential. Although they do not code for proteins, a large number of them are involved in regulating gene expression and translation. The presence of numerous lncRNAs in the human genome has prompted us to investigate the contribution of these molecules to human biology and medicine. In this review, we present the potential role of lncRNAs interlinked to different human diseases and genetic disorders...
May 26, 2016: RNA Biology
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