Towards Routine Screening of Rare Genetic Diseases
نویسندگان
چکیده
منابع مشابه
Optimal screening for genetic diseases.
Screening for genetic diseases is performed in many regions and/or ethnic groups where there is a high prevalence of possibly malign genes. The propagation of such genes can be considered a dynamic externality. Given that many of these diseases are untreatable and give rise to truly tragic outcomes, they are a source of societal concern, and the screening process should perhaps be regulated. Th...
متن کاملI-20: Towards The Transparent Embryo: Dynamics and Ethics of Comprehensive Preimplantation Genetic Screening
Background: To study the ethical aspects of comprehensive preimplantation genetic screening (PGS) through microarrays and whole genome sequencing Materials and Methods: In order to pinpoint ethical issues regarding comprehensive embryo screening we have first investigated the technical and moral issues by organizing a campus meeting with experts and by a literature study. Subsequently we have i...
متن کاملRoutine preoperative coagulation screening detects a rare bleeding disorder.
Factor X deficiency is a rare hereditary coagulation disorder. We report a case of congenital factor X deficiency diagnosed preoperatively in an 8-yr-old female child scheduled to undergo corrective surgery for congenital thoracolumbar kyphoscoliosis. Her preoperative coagulation profile revealed prolonged prothrombin time and activated partial thromboplastin time values. Further evaluation sho...
متن کاملAssociating rare genetic variants with human diseases
Citation: Zhang Q (2015) Associating rare genetic variants with human diseases. Genome researches have revealed that a large portion (over 50%) of genetic variants on human chromosomes are rare variants (RVs) with extremely low allele frequency (usually defined as less than 1%) in populations. In recent years, advances of DNA genotyping and sequencing technologies have been facilitating the dis...
متن کاملHigh-throughput sequencing and rare genetic diseases.
High-throughput sequencing has drastically changed the research of genes responsible for genetic disorders and is now gradually introduced as an additional genetic diagnostic testing in clinical practice. The current debates on the emerging technical, medical and ethical issues as well as the potential optimum use of the available technology are discussed.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: The Journal of Molecular Diagnostics
سال: 2010
ISSN: 1525-1578
DOI: 10.2353/jmoldx.2010.100004