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[PERSPECTIVES] Genetic Risk Assessment in Psychiatry
Most psychiatric disorders of pediatric and adult onset are caused by a complex interplay of genetic and environmental risk factors. Risk assessment in genetic counseling is correspondingly complicated. Outside of neurodevelopmental conditions, genetic and genomic testing has not achieved clinical utility. Genetic counselors most often base risk assessment on the client's medical and family history and empiric recurrence risk data. In rare cases significant familial risk may arise from variants of large effect. New approaches such as polygenic risk scores have the potential to inform diagnosis and management of affected in...
Source: Cold Spring Harbor perspectives in medicine - December 1, 2020 Category: Research Authors: Peay, H. L. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Impact of Emerging Technologies in Prenatal Genetic Counseling
For decades, prenatal testing has been offered to evaluate pregnancies for genetic conditions. In recent years, the number of testing options and range of testing capabilities has dramatically increased. Because of the risks associated with invasive diagnostic testing, research has focused on the detection of genetic conditions through screening technologies such as cell-free DNA. Screening for aneuploidy, copy number variants, and monogenic disorders is clinically available using a sample of maternal blood, but limited data exist on the accuracy of some of these testing options. Additional research is needed to examine th...
Source: Cold Spring Harbor perspectives in medicine - December 1, 2020 Category: Research Authors: Stevens, B. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Normal Hematopoiesis Is a Balancing Act of Self-Renewal and Regeneration
The hematopoietic system is highly organized to maintain its functional integrity and to meet lifelong organismal demands. Hematopoietic stem cells (HSCs) must balance self-renewal with differentiation and the regeneration of the blood system. It is a complex balancing act between these competing HSC functions. Although highly quiescent at steady state, HSCs become activated in response to inflammatory cytokines and regenerative challenges. This activation phase leads to many intrinsic stresses such as replicative, metabolic, and oxidative stress, which can cause functional decline, impaired self-renewal, and exhaustion of...
Source: Cold Spring Harbor perspectives in medicine - December 1, 2020 Category: Research Authors: Olson, O. C., Kang, Y.-A., Passegue, E. Tags: Leukemia and Lymphoma: Molecular and Therapeutic Insights PERSPECTIVES Source Type: research

[PERSPECTIVES] Epigenetic Mechanisms in Leukemias and Lymphomas
Although we are just beginning to understand the mechanisms that regulate the epigenome, aberrant epigenetic programming has already emerged as a hallmark of hematologic malignancies including acute myeloid leukemia (AML) and B-cell lymphomas. Although these diseases arise from the hematopoietic system, the epigenetic mechanisms that drive these malignancies are quite different. Yet, in all of these tumors, somatic mutations in transcription factors and epigenetic modifiers are the most commonly mutated set of genes and result in multilayered disruption of the epigenome. Myeloid and lymphoid neoplasms generally manifest ep...
Source: Cold Spring Harbor perspectives in medicine - December 1, 2020 Category: Research Authors: Duy, C., Beguelin, W., Melnick, A. Tags: Leukemia and Lymphoma: Molecular and Therapeutic Insights PERSPECTIVES Source Type: research

[PERSPECTIVES] The Evolution and Ecology of Resistance in Cancer Therapy
Despite the continuous deployment of new treatment strategies and agents over many decades, most disseminated cancers remain fatal. Cancer cells, through their access to the vast information of the human genome, have a remarkable capacity to deploy adaptive strategies for even the most effective treatments. We note there are two critical steps in the clinical manifestation of treatment resistance. The first, which is widely investigated, requires molecular machinery necessary to eliminate the cytotoxic effect of the treatment. However, the emergence of a resistant phenotype is not in itself clinically significant. That is,...
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Gatenby, R. A., Brown, J. S. Tags: Cancer Evolution PERSPECTIVES Source Type: research

[RETRACTION] Retraction: The Evolution and Ecology of Resistance in Cancer Therapy
(Source: Cold Spring Harbor perspectives in medicine)
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Gatenby, R., Brown, J. Tags: RETRACTION Source Type: research

[TECHNIQUES] Synthetic Virology: Building Viruses to Better Understand Them
Generally comprised of less than a dozen components, RNA viruses can be viewed as well-designed genetic circuits optimized to replicate and spread within a given host. Understanding the molecular design that enables this activity not only allows one to disrupt these circuits to study their biology, but it provides a reprogramming framework to achieve novel outputs. Recent advances have enabled a "learning by building" approach to better understand virus biology and create valuable tools. Below is a summary of how modifying the preexisting genetic framework of influenza A virus has been used to track viral movement, underst...
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: tenOever, B. R. Tags: Influenza: The Cutting Edge TECHNIQUES Source Type: research

[PERSPECTIVES] The Structure, Function, and Pathobiology of the Influenza A and B Virus Ion Channels
Influenza A virus AM2 protein is an integral membrane protein that is an ion channel (also known as a viroporin). The channel has 24 extracellular residues, 19 residues that span the membrane once and acts as both the channel pore and also the membrane anchoring domain, and a 54-residue cytoplasmic tail. The M2 protein has four identical chains linked via two disulfide bonds that form a four-helix bundle that is 107–108 more permeable to protons than Na+ ions. The M2 channel is activated by low pH, His residue 37 is the pH sensor, and Trp residue 41 is the channel gate. The channel is blocked by the antiviral drug am...
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Lamb, R. A. Tags: Influenza: The Cutting Edge PERSPECTIVES Source Type: research

[TECHNIQUES] Cellular Plasticity during Metastasis: New Insights Provided by Intravital Microscopy
Metastasis is a highly dynamic process during which cancer and microenvironmental cells undergo a cascade of events required for efficient dissemination throughout the body. During the metastatic cascade, tumor cells can change their state and behavior, a phenomenon commonly defined as cellular plasticity. To monitor cellular plasticity during metastasis, high-resolution intravital microscopy (IVM) techniques have been developed and allow us to visualize individual cells by repeated imaging in animal models. In this review, we summarize the latest technological advancements in the field of IVM and how they have been applie...
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Margarido, A. S., Bornes, L., Vennin, C., van Rheenen, J. Tags: Metastasis: Mechanism to Therapy TECHNIQUES Source Type: research

[PERSPECTIVES] Premetastasis
Sterile inflammation within primary tumor tissues can spread to distant organs that are devoid of tumor cells. This happens in a manner dependent on tumor-led secretome, before the actual metastasis occurs. The premetastatic microenvironment is established in this way and is at least partly regulated by hijacking the host innate immune system. The biological manifestation of premetastasis include increased vascular permeability, cell mobilization via the blood stream, degradation of the extracellular matrix, immunosuppression, and host antineoplastic activities. (Source: Cold Spring Harbor perspectives in medicine)
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Maru, Y. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] Interferon-Free Hepatitis C Virus Therapy
Hepatitis C virus (HCV) infection is a major cause of chronic liver disease, with ~71 million chronically infected individuals worldwide. Treatment of patients with HCV-related liver disease has advanced considerably thanks to the development of new direct-acting antiviral drugs that are now administered as highly potent, safe, and well-tolerated combinations with a high barrier to resistance. International organizations, such as the European Association for the Study of the Liver, the American Association for the Study of Liver Diseases jointly with the Infectious Diseases Society of America, or the World Health Organizat...
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Pawlotsky, J.-M. Tags: Hepatitis C Virus: The Story of a Scientific and Therapeutic Revolution PERSPECTIVES Source Type: research

[PERSPECTIVES] Birds of a Feather? Genetic Counseling, Genetic Testing, and Humanism
Humanism is a philosophy that emphasizes rational, scientific, and empiric analysis of the world we live in to improve the physical, social, and psychological life of humanity. Although individual genetic counselors may or may not identify as humanists, genetic counseling and genetic testing are primarily humanistic endeavors because they are situated in the context of humanistic medicine in the westernized world. Humanistic goals are also implicit and explicit in the profession and practice of genetic counselors. This review examines the relationship between humanism and genetic counseling, highlighting situations in whic...
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Resta, R. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Genetic Counseling and Assisted Reproductive Technologies
Despite the ever-increasing number of patients undergoing fertility treatments and the expanded use of genetic testing in this context, there has been limited focus in the literature on the involvement of genetics professionals in the assisted reproductive technology (ART) setting. Here we discuss the importance of genetic counseling within reproductive medicine. We review how genetic testing of embryos is performed, the process of gamete donation, the challenges associated with genetic testing, and the complexities of genetic test result interpretation. (Source: Cold Spring Harbor perspectives in medicine)
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Lilienthal, D., Cahr, M. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Impact of Genetics on Mature Lymphoid Leukemias and Lymphomas
Recurrent genetic aberrations have long been recognized in mature lymphoid leukemias and lymphomas. As conventional karyotypic and molecular cloning techniques evolved in the 1970s and 1980s, multiple cytogenetic aberrations were identified in lymphomas, often balanced translocations that juxtaposed oncogenes to the immunoglobulin (IG) or T-cell receptor (TR) loci, leading to dysregulation. However, genetic characterization and classification of lymphoma by conventional cytogenetic methods is limited by the infrequent occurrence of recurrent karyotypic abnormalities in many lymphoma subtypes and by the frequent difficulty ...
Source: Cold Spring Harbor perspectives in medicine - November 2, 2020 Category: Research Authors: Bailey, N. G., Elenitoba-Johnson, K. S. J. Tags: Leukemia and Lymphoma: Molecular and Therapeutic Insights PERSPECTIVES Source Type: research

[RETROSPECTIVE] The 1918 Influenza Pandemic and Its Legacy
Just over a century ago in 1918–1919, the "Spanish" influenza pandemic appeared nearly simultaneously around the world and caused extraordinary mortality—estimated at 50–100 million fatalities—associated with unexpected clinical and epidemiological features. The pandemic's sudden appearance and high fatality rate were unprecedented, and 100 years later still serve as a stark reminder of the continual threat influenza poses. Sequencing and reconstruction of the 1918 virus have allowed scientists to answer many questions about its origin and pathogenicity, although many questions remain. Several of th...
Source: Cold Spring Harbor perspectives in medicine - September 30, 2020 Category: Research Authors: Taubenberger, J. K., Morens, D. M. Tags: Influenza: The Cutting Edge RETROSPECTIVE Source Type: research