Cold Spring Harbor perspectives in medicine This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

[TECHNIQUE] Animal Models of Hepatitis C Virus Infection
Hepatitis C virus (HCV) is an important and underreported infectious disease, causing chronic infection in ~71 million people worldwide. The limited host range of HCV, which robustly infects only humans and chimpanzees, has made studying this virus in vivo challenging and hampered the development of a desperately needed vaccine. The restrictions and ethical concerns surrounding biomedical research in chimpanzees has made the search for an animal model all the more important. In this review, we discuss different approaches that are being pursued toward creating small animal models for HCV infection. Although efforts to use ...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Ploss, A., Kapoor, A. Tags: Hepatitis C Virus: The Story of a Scientific and Therapeutic Revolution TECHNIQUE Source Type: research

[PERSPECTIVES] Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives
Preimplantation genetic testing (PGT) is a reproductive technology that, in the course of in vitro fertilization (IVF), allows prospective parents to select their future offspring based on genetic characteristics. PGT could be seen as an exercise of reproductive liberty, thus potentially raising significant socioethical and legal controversy. In this review, we examine—from a comparative perspective—variations in policy approaches to the regulation of PGT. We draw on a sample of 19 countries (Australia, Austria, Belgium, Brazil, Canada, China, France, Germany, India, Israel, Italy, Japan, Mexico, Netherlands, S...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Ginoza, M. E. C., Isasi, R. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine
Consistently, the field of genetic counseling has advocated that parents be advised to defer elective genetic testing of minors until adulthood to prevent a range of potential harms, including stigma, discrimination, and the loss of the child's ability to decide for him- or herself as an adult. However, consensus around the policy of "defer-when-possible" obscures the extent to which this norm is currently under siege. Increasingly, routine use of full or partial genome sequencing challenges our ability to control what is discovered in childhood or, when applied in a prenatal context, even before birth. The expansion of co...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Hercher, L. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] PTEN Nuclear Functions
For years, clinical and basic researchers have been aware of the presence of PTEN in the nucleus in cell culture, animal models, and both healthy and diseased human tissues. Despite the early recognition of nuclear PTEN, the understanding of the mechanisms of its nuclear localization, function in the nucleus, and importance in biology and human disease has been lacking. Over the last decade, emerging concepts for the complex involvement of nuclear PTEN in a variety of processes, including genome maintenance and DNA repair, cell-cycle control, gene expression, and DNA replication, are illuminating what could prove to be the...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Ho, J., Cruise, E. S., Dowling, R. J. O., Stambolic, V. Tags: The PTEN Family PERSPECTIVES Source Type: research

[PERSPECTIVES] RNA Regulators in Leukemia and Lymphoma
Posttranscriptional regulation of mRNA is a powerful and tightly controlled process in which cells command the integrity, diversity, and abundance of their protein products. RNA-binding proteins (RBPs) are the principal players that control many intermediary steps of posttranscriptional regulation. Recent advances in this field have discovered the importance of RBPs in hematological diseases. Herein we will review a number of RBPs that have been determined to play critical functions in leukemia and lymphoma. Furthermore, we will discuss the potential therapeutic strategies that are currently being studied to specifically t...
Source: Cold Spring Harbor perspectives in medicine - April 30, 2020 Category: Research Authors: Prieto, C., Kharas, M. G. Tags: Leukemia and Lymphoma: Molecular and Therapeutic Insights PERSPECTIVES Source Type: research

[PERSPECTIVES] Cancer Cell Dormancy in Metastasis
Recurrent metastasis following extended periods of disease-free survival remains a common cause of morbidity and mortality for many cancer patients. Recurrence is thought to be mediated by tumor cells that escaped the primary site early in the disease course and colonize distant organs. In these locations, cells adapt to the local environment, entering a state of long-term dormancy in which they can resist therapy. Then, through mechanisms that are poorly understood, a proportion of these cells are reactivated and become proliferative, forming lethal metastases. Here, we discuss disseminated tumor cell dormancy in recurren...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: Summers, M. A., McDonald, M. M., Croucher, P. I. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] The Immune Microenvironment and Cancer Metastasis
The dynamic interplay between neoplastic cells and the immune microenvironment regulates every step of the metastatic process. Immune cells contribute to invasion by secreting a cornucopia of inflammatory factors that promote epithelial-to-mesenchymal transition and remodeling of the stroma. Cancer cells then intravasate to the circulatory system assisted by macrophages and use several pathways to avoid recognition by cytotoxtic lymphocytes and phagocytes. Circulating tumor cells that manage to adhere to the vasculature and encounter premetastic niches are able to use the associated myeloid cells to extravasate into ectopi...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: El-Kenawi, A., Hänggi, K., Ruffell, B. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research

[PERSPECTIVES] The Elimination of Hepatitis C as a Public Health Threat
Hepatitis C virus is a global public health threat, affecting 71 million people worldwide. Increasing recognition of the impact of this epidemic and recent advances in biomedical and technical approaches to hepatitis C prevention and cure have provided impetus for the World Health Organization (WHO) to call for global elimination of hepatitis C as a public health threat by 2030. This work reviews the feasibility of hepatitis C elimination and pathways to overcome existing and potential future barriers to elimination. Drawing on cost-effectiveness modeling and providing examples of successful implementation efforts across t...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: Hellard, M., Schroeder, S. E., Pedrana, A., Doyle, J., Aitken, C. Tags: Hepatitis C Viruses: The Story of a Scientific and Therapeutic Revolution PERSPECTIVES Source Type: research

[PERSPECTIVES] Natural History of Hepatic and Extrahepatic Hepatitis C Virus Diseases and Impact of Interferon-Free HCV Therapy
The hepatitis C virus (HCV) infects 71.1 million persons and causes 400,000 deaths annually worldwide. HCV mostly infects the liver, causing acute and chronic necroinflammatory damage, which may progress toward cirrhosis and hepatocellular carcinoma. In addition, HCV has been associated with several extrahepatic manifestations. The advent of safe and effective direct-acting antivirals (DAAs) has made the dream of eliminating this public health scourge feasible in the medium term. Prospective studies using DAA-based regimens have shown the benefit of HCV clearance in terms of both liver- and non-liver-related mortality. (So...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: Negro, F. Tags: Hepatitis C Viruses: The Story of a Scientific and Therapeutic Revolution PERSPECTIVES Source Type: research

[PERSPECTIVES] Legal Challenges in Genetics, Including Duty to Warn and Genetic Discrimination
This review will explore two legal issues in genetic counseling: genetic discrimination and the duty to warn. It emphasizes the complexity and variability of federal and state genetic nondiscrimination protections in the United States and how the many gaps in such protections may affect people pursuing genetic testing. The limited law addressing legal obligations genetic counselors owe at-risk relatives likely does not require counselors to warn relatives directly about genetic risks. Whether it permits them to make such disclosures, however, is more uncertain and may depend on the jurisdiction. (Source: Cold Spring Harbor...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: Suter, S. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Genetic Counseling in Neurodevelopmental Disorders
Neurodevelopmental disorders (NDDs), including global developmental delay (GDD), intellectual disability (ID), and autism spectrum disorder (ASD), represent a continuum of developmental brain dysfunction. Although the etiology of NDD is heterogeneous, genetic variation represents the largest contribution, strongly supporting the recommendation for genetic evaluation in individuals with GDD/ID and ASD. Technological advances now allow for a specific genetic diagnosis to be identified in a substantial portion of affected individuals. This information has important ramifications for treatment, prognosis, and recurrence risk, ...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: Blesson, A., Cohen, J. S. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] PTEN in Hereditary and Sporadic Cancer
Germline pathogenic phosphatase and tensin homolog (PTEN) mutations cause PTEN hamartoma tumor syndrome (PHTS), characterized by various benign and malignant tumors of the thyroid, breast, endometrium, and other organs. Patients with PHTS may present with other clinical features such as macrocephaly, intestinal polyposis, cognitive changes, and pathognomonic skin changes. Clinically, deregulation of PTEN function is implicated in other human diseases in addition to many types of human cancer. PTEN is an important phosphatase that counteracts one of the most critical cancer pathways: the phosphatidylinositol 3-kinase (PI3K)...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: Ngeow, J., Eng, C. Tags: The PTEN Family PERSPECTIVES Source Type: research

[PERSPECTIVES] Clonal Hematopoiesis and Premalignant Diseases
Clonal hematopoiesis (CH) arises when mutations in the hematopoietic system confer a fitness advantage to specific clones, thereby favoring their disproportionate growth. The presence of CH increases with age and environmental exposures such as cytotoxic chemotherapy or radiotherapy. The most frequent mutations occur in epigenetic regulators, such as DNMT3A, TET2, and ASXL1, leading to dysregulation of tumor suppressor function, pathogen response, and inflammation. These dysregulated processes elevate risk of overall mortality, cardiovascular disease, and eventual hematologic malignancy (HM). CH is likely acting as an init...
Source: Cold Spring Harbor perspectives in medicine - March 31, 2020 Category: Research Authors: Kaner, J., Desai, P., Mencia-Trinchant, N., Guzman, M. L., Roboz, G. J., Hassane, D. C. Tags: Leukemia and Lymphoma: Molecular and Therapeutic Insights PERSPECTIVES Source Type: research

[PERSPECTIVES] Genetic Counseling and the Central Tenets of Practice
Genetic counseling is a profession growing and evolving at an extraordinary rate. This growth is driven by an explosion in what we know, as a result of progress in science, technology, and bioinformatics, and an explosion in what we do not know, as we strive to understand the impact of genomic information on the lives of our patients and clients. Genetic counselors work in an increasing number of subspecialties and diversity of settings. But although the field has evolved, it has maintained a remarkably unchanged core of shared values and beliefs. The heart of genetic counseling practice is the therapeutic relationship, wi...
Source: Cold Spring Harbor perspectives in medicine - March 1, 2020 Category: Research Authors: Biesecker, B. Tags: Genetic Counseling: Clinical Practice and Ethical Considerations PERSPECTIVES Source Type: research

[PERSPECTIVES] Liver Tropism in Cancer: The Hepatic Metastatic Niche
The liver is the largest organ in the human body and is prone for cancer metastasis. Although the metastatic pattern can differ depending on the cancer type, the liver is the organ to which cancer cells most frequently metastasize for the majority of prevalent malignancies. The liver is unique in several aspects: the vascular structure is highly permeable and has unparalleled dual blood connectivity, and the hepatic tissue microenvironment presents a natural soil for the seeding of disseminated tumor cells. Although 70% of the liver is composed of the parenchymal hepatocytes, the remaining 30% is composed of nonparenchymal...
Source: Cold Spring Harbor perspectives in medicine - March 1, 2020 Category: Research Authors: Mielgo, A., Schmid, M. C. Tags: Metastasis: Mechanism to Therapy PERSPECTIVES Source Type: research