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| Author | : Xiu-An Yang |
| Publisher | : Frontiers Media SA |
| Total Pages | : 165 |
| Release | : 2023-07-31 |
| Genre | : Science |
| ISBN | : 2832530729 |
| Author | : Xiu-An Yang |
| Publisher | : Frontiers Media SA |
| Total Pages | : 104 |
| Release | : 2022-01-28 |
| Genre | : Science |
| ISBN | : 2889742032 |
| Author | : Urszula Demkow |
| Publisher | : Academic Press |
| Total Pages | : 336 |
| Release | : 2015-09-10 |
| Genre | : Science |
| ISBN | : 0128018410 |
Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies
| Author | : Arvin M. Gouw |
| Publisher | : Frontiers Media SA |
| Total Pages | : 119 |
| Release | : 2020-03-03 |
| Genre | : |
| ISBN | : 2889635244 |
A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. A genomic approach to rare disease research is becoming the key to discovering unknown causes behind these syndromes. Genomic rare disease research has attracted not only academic researchers but also researchers from the biotech/pharma and non-profit organizations. The breadth and depth of current genomic approaches in rare disease is largely unexplored. While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches for rare diseases. This Research Topic provides a fruitful platform for rare disease researchers to share their findings and advance the field of genomics research in the rare disease space.
| Author | : Wei Wu |
| Publisher | : Springer |
| Total Pages | : 500 |
| Release | : 2015-04-25 |
| Genre | : Medical |
| ISBN | : 3319158112 |
Latest generation sequencing revolutionizes the fields of cancer research and oncology. This follow-up volume focuses more extensively on single cell sequencing of cancer and trials in drug resistance. Another exciting feature is the bioinformatics tools given, that can be used on cancer genome studies. Scientists around the world are attempting to find the root cause of cancer. A reasonable cancer treatment plan and potential cure is more optimistic now with the unfolding of the cancer genome. The collective knowledge of how to leverage next generation sequencing in cancer research is paving the way. The important information provided in this volume will move the field forward in developing novel targeted cancer therapies.
| Author | : Naser M. Ali |
| Publisher | : |
| Total Pages | : 0 |
| Release | : 2019 |
| Genre | : |
| ISBN | : |
Rare genetic diseases (RGDs) and rare sporadic cancers are often considered as two separate groups of diseases. Nevertheless, both groups share the same burden: their rarity and the challenges in diagnosis and treatment, thus affecting the wellbeing of many patients and their families around the world. Although next generation sequencing (NGS) technologies have revolutionised the genetic landscape of RGDs and cancers, many patients with these diseases are still without a definitive molecular diagnosis. In this thesis, NGS was conducted on congenital hypothyroidism (CHT) families (an example of an RGD) and three rare bone cancers, aiming to expand the understanding of the genetic and pathogenic mechanisms of these diseases. To identify known or novel disease-causing genes, WES was conducted on four families with CHT. In one family, a homozygous candidate variant in SIX2 was identified, and subsequent functional characterisation experiments and family segregation analyses were performed. After more family members were included, the SIX2 variant did not segregate with the disease in the family and, therefore, was classified as unlikely disease causing. WES and RNA sequencing (RNA-Seq) were conducted on three rare bone tumours: undifferentiated pleomorphic sarcoma of bone (UPSb), adamantinoma and osteofibrous dysplasia (OFD)-like adamantinoma. In UPSb tumours, 31 genes were recurrently mutated, including TP53 in 4/14 samples (29%), and chromatin remodelling genes (ATRX, H3F3A, DOT1L) in 5/14 samples (36%). In addition, two previously reported gene fusions (CLTC-VMP1 and FARP1-STK24) were identified in these tumours. In adamantinoma tumours, KMT2D, a histone methyltransferase, was recurrently mutated in 2/8 adamantinomas (25%). In addition, a cancer predisposing germline fusion (KANSL1-ARL17A) was identified in 4/6 adamantinoma (66.7%) and in 3/4 OFD-like adamantinoma (75%) tumours. This thesis is a practical example demonstrating how rare diseases and cancers can be investigated using the same high-throughput techniques. Moreover, the three bone tumour studies represent the first comprehensive WES and RNA-Seq analyses conducted on these tumours, revealing novel molecular insights that can be translated into clinical practices to enhance the diagnosis, prognosis and the outcomes of patients with these diseases.
| Author | : Lee-Jun C. Wong |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 302 |
| Release | : 2013-05-31 |
| Genre | : Medical |
| ISBN | : 1461470013 |
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future.
| Author | : C. Alexander Valencia |
| Publisher | : Springer |
| Total Pages | : 94 |
| Release | : 2013-10-17 |
| Genre | : Medical |
| ISBN | : 9781461490333 |
This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.
| Author | : Claudia Gonzaga-Jauregui |
| Publisher | : Academic Press |
| Total Pages | : 316 |
| Release | : 2021-06-12 |
| Genre | : Medical |
| ISBN | : 0128204362 |
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
| Author | : Alexa Derksen |
| Publisher | : |
| Total Pages | : |
| Release | : 2020 |
| Genre | : |
| ISBN | : |
"Genetically determined leukoencephalopathies (gLEs) are a group of rare heritable white matter disorders primarily affecting children, for which there remains many unsolved genetic cases. Identifying the molecular cause of these neurodegenerative diseases is essential as it allows the patients and their families to know the disease course, gain access to therapeutic options if available and obtain genetic counselling to make reproductive decisions.The first section of this thesis focuses on identifying the genetic cause of a cohort of patients with unsolved gLEs using whole exome sequencing (WES). The analysis was performed on 18 patients, 12 of which were second or third analyses, in accordance with the American College of Medical Genetics and Genomics (ACMG) Guidelines. We found a de novo pathogenic variant in DYNC1H1 in two twin siblings, a strong candidate gene ABHD16A in 4 cases from two families, and variants of unknown significance in other genes in another 5 cases. We thereby report a solved rate of approximately 27% (5/18), wherein three of the second analyses, and both third analyses have strong candidate genes. Our solved rate greatly exceeds the anticipated 5-11% rate published in literature for other re-analyses cohorts. In the second part of this thesis, we explore the functional defects caused by biallelic variants identified in the LSM7 (NM_016199) gene, which encodes an RNA-binding protein that is part of two complexes playing a role in either RNA splicing or mRNA decay. Following a clinical WES, a homozygous variant in LSM7 at position c.121G>A; p.Asp41Asn was identified in a patient (GB114.0) with a leukodystrophy. Through GeneMatcher, another individual with a different homozygous variant in LSM7 at position c.206G>C; p.Arg69Pro was found. Structural data predicted that the mutant residues would result in the loss of key intra- and inter-molecular interactions. Affinity purification of wildtype and disease-associated LSM7 variants from human cells confirmed that both variants lead to a defect in assembly of both LSM complexes. Molecular investigations of the p.Asp41Asn variant showed decreased levels of LSM7 mRNA and protein compared to healthy controls. We also found that knockout of Lsm7 in zebrafish embryos led to a defect in nervous system development, supporting a role for LSM7 mutations in neurodegeneration. This thesis demonstrated that WES is an invaluable tool to identify the molecular causes of rare genetic diseases and that re-analysis of existing WES data should be considered before WGS and RNA sequencing. We describe a novel ultra rare neurodevelopmental and neurodegenerative disorder caused by biallelic pathogenic variants in LSM7 and shed light on the disease pathogenesis. We are hopeful that our work will provide the foundation for future investigations into this rare human disease and lead to the development of potential therapies"--
