Genetic Counseling in Von Hippel-Lindau Disease: Navigating the Landscape of a Well-Established Syndrome
AbstractPurpose of ReviewVon Hippel-Lindau disease is a multiple neoplasia syndrome that encompasses uncommon tumor types including hemangioblatoma, pheochromocytoma, renal cancer, and pancreatic neuroendocrine tumors. The disease is highly variable, and a review of the literature reinforces the need for referral for genetic risk assessment and counseling when a patient has any component tumor.Recent FindingsResearch from registry-based von Hippel-Lindau disease (VHL) populations provides new evidence of the benefits of patient compliance with close surveillance, the significantly younger age of renal cancer compared to th...
Source: Current Genetic Medicine Reports - May 4, 2017 Category: Genetics & Stem Cells Source Type: research
Prenatal Diagnostic Exome Sequencing: a Review
AbstractPurpose of reviewThis review aims to summarize the current landscape of prenatal diagnostic exome sequencing (PDES), provide insight into this new diagnostic tool, and describe how PDES is being used in both research and clinical settings to provide diagnoses for fetal cases.Recent findingsCurrent recommendations indicate that PDES only be considered for the phenotypically abnormal fetus. PDES research has shown multiple benefits, including providing new disease-gene associations for prenatal phenotypes and expanding the phenotypic spectrum of previously described diseases. There are few published clinical cohorts,...
Source: Current Genetic Medicine Reports - May 2, 2017 Category: Genetics & Stem Cells Source Type: research
Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes
AbstractPurpose of ReviewAcute leukemia is the most common cancer of childhood. The pathogenesis of childhood leukemia is multifactorial, and most cases occur sporadically. Although the majority of genetic changes are acquired somatic mutations, recent discoveries have revealed that inherited germline mutations are present in an increasing proportion of children, predisposing them to leukemia.Recent FindingsRecently described germline mutations inETV6,SH2B3, andPAX5 have been associated with increased risks of acute lymphoblastic leukemia (ALL). A high incidence of germline mutations inGATA2 is seen in pediatric myelodyspl...
Source: Current Genetic Medicine Reports - May 2, 2017 Category: Genetics & Stem Cells Source Type: research
Metabolic Dysregulation in Amyotrophic Lateral Sclerosis: Challenges and Opportunities
AbstractPurpose of ReviewAmyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease for which there is no cure and treatments are at best palliative. Several genes have been linked to ALS, which highlight defects in multiple cellular processes including RNA processing, proteostasis, and metabolism. Clinical observations have identified glucose intolerance and dyslipidemia as key features of ALS; however, the causes of these metabolic alterations remain elusive.Recent FindingsRecent studies reveal that motor neurons and muscle cells may undergo cell type-specific metabolic changes that lead to utilizatio...
Source: Current Genetic Medicine Reports - April 28, 2017 Category: Genetics & Stem Cells Source Type: research
Benefits and Challenges of Telemedicine: the JScreen Program Experience
AbstractPurpose of ReviewThe purposes of the present study are to evaluate telemedicine via analysis of the JScreen program and describe the benefits and challenges of telemedicine for genetic services.Recent FindingsThere are a number of considerations in establishing and using telemedicine services. These may include technology and the need for future upgrades, overcoming difficulties in connecting with patients, state regulations on genetic testing and provision of services, and data security and confidentiality. Also, providers must adjust and expand their skills to overcome the unique challenges that may arise during ...
Source: Current Genetic Medicine Reports - April 27, 2017 Category: Genetics & Stem Cells Source Type: research
Erratum to: Genetics of Lipid and Lipoprotein Disorders and Traits
(Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - March 20, 2017 Category: Genetics & Stem Cells Source Type: research
Counseling At-Risk Parkinson ’s Disease Cohorts: Integrating Emerging Evidence
This article evaluates the current state of testing and counseling viewpoints for Parkinson ’s disease (PD) risk gene carriers and their families.Recent FindingsRecent discoveries of mutations in genes associated with increased risk for PD not only portend novel possibilities for targeted clinical research but also present salient challenges for genetic counseling.SummaryA patient-centered and transparent approach to counseling that assesses preferences and communication styles is described to aid in facilitating the use of evolving evidence regarding strategies to attenuate PD phenoconversion in non-manifesting carriers...
Source: Current Genetic Medicine Reports - March 10, 2017 Category: Genetics & Stem Cells Source Type: research
Genetic and Evolutionary Contributions to the Etiology of Attention Deficit Hyperactivity Disorder
AbstractWe review progress made concerning the participation of candidate genes in the determination of attention deficit disorder with hyperactivity (ADHD) as well as recent evidence on its genetic determination based on molecular methodology. In addition to linkage analyses, we discuss recent results obtained through genome-wide association studies (GWAS). We also discuss the genetic comorbidity estimated between ADHD and major psychiatric disorders such as schizophrenia (E), major depressive disorder (MDD), bipolar disorder (BD), and autism spectrum disorders (ASD). Furthermore, we examine both the geographical distribu...
Source: Current Genetic Medicine Reports - March 1, 2017 Category: Genetics & Stem Cells Source Type: research
Bioinformatics in the Identification of Novel Targets and Pathways in Neurodegenerative Diseases
AbstractPurpose of ReviewNeurodegenerative diseases are a heterogeneous group of complex conditions that lead to progressive degeneration or death of neurons. The economical and societal costs of these diseases are increasing rapidly, so there is an urgent need to find new solutions to remedy the situation. Understanding these diseases on a molecular pathway level could lead to development of better biomarkers and treatments, but the massive amounts of data involved makes this a challenge.Recent FindingsBioinformatics approaches can be used to manage and analyze data from the current high-throughput research technologies a...
Source: Current Genetic Medicine Reports - February 17, 2017 Category: Genetics & Stem Cells Source Type: research
Recent Progress in Functional Genomic Studies of Depression and Suicide
AbstractAccording to the WHO approximately 350 million individuals worldwide are affected by depression, making it the global leading cause of disability. Depression also closely associates with suicide. The last three decades have seen a wealth of genetic studies aiming to identify genes associated with depression and suicidal behavior, whereas more recent advances in our understanding of how the genome is functionally regulated, coupled with developments in high-throughput sequencing methods, have led to an increased capacity and interest in the study of functional genomics. These studies provide us with a unique opportu...
Source: Current Genetic Medicine Reports - February 15, 2017 Category: Genetics & Stem Cells Source Type: research
Expanding Use of cfDNA Screening in Pregnancy: Current and Emerging Ethical, Legal, and Social Issues
This article addresses the ethical, legal, and social issues related to the shift in guidance and expanded use of cfDNA in pregnant women, including concerns regarding routinized testing, an unmet and increasing demand for genetic counseling services, social and economic disparities in access, impact on groups living with disabling conditions, and provider liability. (Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - February 10, 2017 Category: Genetics & Stem Cells Source Type: research
Molecular Mechanisms of Transcription Factor 4 in Pitt-Hopkins Syndrome
AbstractPurpose of ReviewPitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder that results from mutations of the clinically pleiotropic transcription factor 4 (TCF4) gene. Mutations in the genomic locus of TCF4 on chromosome 18 have been linked to multiple disorders including 18q syndrome, schizophrenia, Fuch ’s corneal dystrophy, and sclerosing cholangitis. For PTHS, TCF4 mutation or deletion leads to the production of a dominant negative TCF4 protein and/or haploinsufficiency that result in abnormal brain development. The biology of TCF4 has been studied for several years in regard to its role in imm une ...
Source: Current Genetic Medicine Reports - February 10, 2017 Category: Genetics & Stem Cells Source Type: research
Editing the Genome: Prospects, Progress, Implications, and Cautions
AbstractPurpose of ReviewClinicians, clinical researchers, and the general public all need to consider the implications of rapid advances in gene editing technology, which have given rise not only to new hope for the development of corrective interventions for genetic defects and many other diseases and conditions but also to many ethical, social, and policy concerns.Recent FindingsGene editing tools are potentially both more precise and more accurate than current gene transfer interventions; in addition, the discovery and development of the CRISPR/Cas9 system has made gene editing research considerably easier, faster, and...
Source: Current Genetic Medicine Reports - January 18, 2017 Category: Genetics & Stem Cells Source Type: research
The Genetics of Intracranial Aneurysms
AbstractPurpose of ReviewSaccular intracranial aneurysm (sIA) is a relatively common intracranial arterial pathology with a prevalence of approximately 3%. Rupture of sIA causes subarachnoid hemorrhage, which is the third most frequent form of stroke and which predominantly affects the working-age population. The underlying causes of IA are complex, and the role of genetics in its pathobiology is poorly characterized. This review summarizes the latest research on sIA genetics, focusing on the large genome-wide association study (GWAS) approach.Recent FindingsThe six GWAS papers published since 2008 identified several IA ri...
Source: Current Genetic Medicine Reports - January 13, 2017 Category: Genetics & Stem Cells Source Type: research
Erratum to: MeCP2 … Nature’s Wonder Protein or Medicine’s Most Feared One?
(Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - November 4, 2016 Category: Genetics & Stem Cells Source Type: research
