Cold spring harbor molecular case studies
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From molecular case studies: Novel syndrome resulting from multiple genomic lesions
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Review Article. Article Volume Cold Spring Harbor molecular case studies Journal Profile.Although genomic testing can be useful for clinical diagnosis, most patients have no obvious genomic changes despite a strong indication of a genetic condition. In a paper published in the March issue of Cold Spring Harbor Molecular Case Studiesresearchers from the US, Turkey, and the Netherlands describe a rare new syndrome likely arising from the dual contribution of two genomic abnormalities previously individually associated with clinical pathologies.
Two male siblings with similar phenotypic features, namely neurocognitive, craniofacial, and gonadal malformations, did not conform to previously described syndromes.
To aid diagnosis, researchers performed whole exome sequencing and cytogenetic testing on the patients and their parents.Cold Spring Harbor Laboratory Public Lecture: Harold Varmus, M.D.: Biomedical Research, Then & Now
Initially, the researchers homed in on a coding mutation shared by both patients on the X Chromosome and inherited from their mother. However, testing in zebrafish did not reveal any developmental defects similar to those seen in the patients. The researchers next looked for large-scale changes in the patients' genomes. Both patients have a terminal duplication of Chromosome 16q and a terminal deletion of Chromosome 5p, encompassing and 50 genes, respectively.
The breakpoints of the lesions do not disrupt any transcripts, but previous reports of syndromes with molecular breakpoints overlapping a single chromosomal abnormality are associated with some of the same clinical features as the patients in this study.
The researchers suggest that both genomic regions contribute to the complex clinical presentation of the patients, likely as a result of changes to gene copy numbers.
Materials provided by Cold Spring Harbor Laboratory. Note: Content may be edited for style and length. Science News.
A t 5;16 translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay.
Molecular Case Studies; mcs. ScienceDaily, 1 March Cold Spring Harbor Laboratory. From molecular case studies: Novel syndrome resulting from multiple genomic lesions. Retrieved February 24, from www.
The majority of those findings were not associated with clinical features of the Below are relevant articles that may interest you. ScienceDaily shares links with scholarly publications in the TrendMD network and earns revenue from third-party advertisers, where indicated. Boy or Girl? Living Well. View all the latest top news in the environmental sciences, or browse the topics below:.Use Read by QxMD to access full text via your institution or open access sources. Read also provides personalized recommendations to keep you up to date in your field.
RNA sequencing profiles and diagnostic signatures linked with response to ramucirumab in gastric cancer. Gastric cancer GC is the fifth cancer type by associated mortality.
Proportion of early diagnosis is low, and most patients are diagnosed at the advanced stages. First line therapy standardly includes fluoropyrimidines and platinum compounds with trastuzumab for HER2-positive cases. For the recurrent disease there are several alternative options including ramucirumab, a monoclonal therapeutic antibody that inhibits VEGF-mediated tumor angiogenesis by binding with VEGFR2, alone or in combination with other cancer drugs Genomic analysis of a patients' tumor is the cornerstone of precision oncology, but it doesn't address whether metastases should be treated differently.
Here we tested whether comparative scRNA-seq of a primary small intestinal neuroendocrine tumor to a matched liver metastasis could guide treatment of a patients' metastatic disease. Following surgery, the patient was put on maintenance treatment with a somatostatin analog.Nabi ki paidaish date
However, the scRNA-seq analysis revealed that the neuroendocrine epithelial cells in the liver metastasis were less differentiated and expressed relatively little SSTR2, the predominant somatostatin receptor The tale of two genes- from next generation sequencing to phenotype. An 18 year old man with a history of intellectual disability, cranio-facial dysmorphism, seizure disorder and obesity was identified to carry a de novo, pathogenic variant in the ASXL1 gene c.
EX associated with a diagnosis of Bohring Opitz syndrome using whole exome sequencing. In addition he was identified to carry a maternally inherited likely pathogenic variant in the MC4R gene c.
QX associated with monogenic obesity. Defining an embryonal rhabdomyosarcoma endotype. Rhabdomyosarcoma RMS is the most common childhood soft-tissue sarcoma. The genomic landscape of ERMS demonstrates a range of putative driver mutations, and thus the recognition of the pathological mechanisms driving tumor maintenance should be critical for identifying effective targeted treatments at the level of the individual patients We report the diagnostic challenges and the clinical course of a patient with an extraordinary presentation of B-lymphoblastic leukemia B-ALL with eosinophilia.
This gene fusion from the same patient was recently identified by Peterson et al. Herein, we describe the extended and detailed clinical course of a rare case of a child with recurrent, pulmonary metastatic, favorable histology WT harboring a BRAF VE mutation Corrigendum: 1q Phenotypic expansion of autosomal dominant retinitis pigmentosa associated with the DG mutation in RPE Variable expressivity of this disease has been reported, as carrier individuals can present with mild, nonpenetrant, or, most commonly, a severe chorioretinal phenotype that resembles choroideremia.
We report the case of a yr-old male who presented to our clinic with nyctalopia and decreasing visual acuity for 1 yr Undifferentiated small round cell sarcoma in a young male: a case report. CIC -rearranged sarcomas CRSs have recently been characterized as a distinct sarcoma subgroup with a less favorable prognosis compared to other small round cell sarcomas.
CRSs share morphologic features with Ewing's sarcoma and prior to were grouped under undifferentiated sarcomas with round cell phenotype by the WHO classification.
Cold Spring Harbor molecular case studies
In this report, whole-genome sequencing and RNA sequencing were performed for an adolescent male patient with CRS who was diagnosed with undifferentiated pleomorphic sarcoma UPS by three contemporary institutions Expanding the phenotypic spectrum in RDHassociated retinal disease.
Retinol dehydrogenase 12, RDH12, plays a pivotal role in the visual cycle to ensure the maintenance of normal vision. Alterations in activity of this protein result in photoreceptor death and decreased vision beginning at an early age and progressing to substantial vision loss later in life. Here we describe 11 patients with retinal degeneration that underwent next-generation sequencing NGS with a targeted panel of all currently known inherited retinal degeneration IRD genes and whole-exome sequencing to identify the genetic causality of their retinal disease Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.This legacy, which includes 8 Nobel Prize winners, continues to be strengthened today by the 50 faculty members who head cutting-edge laboratories in a broad range of fields, some of which are often and increasingly interdisciplinary.
Their efforts and output are consistently, internationally recognized. How does the brain encode stimuli from the outside world to give rise to perceptions? What does a smell look like in the brain?
Cold Spring Harbor Molecular Case Studies
The focus of my group is to understand how neural circuits compute sensory-motor transformations across different contexts, senses, and brain states to generate meaningful behaviors. Learn More. Patients with cancer frequently experience debilitating symptoms that can impair quality of life and reduce odds of survival.
Our lab aims to uncover mechanistic interactions between the brain and cancer that drive these phenomena. Reciprocally, we investigate how manipulation of specific brain circuits influences cancer processes in the body.
My research interests are in the molecular genetics, genetics, and genomics of gynecologic and breast cancers. Animals are faced with many decisions. They must integrate information from a variety of sources — sensory inputs like smell and sound as well as memories and innate impulses — to arrive at a single behavioral output.
My laboratory investigates the neural circuits that underlie decision-making. Next generation sequencing technologies revolutionized many areas of genetics and molecular biology, enabling quantitative analyses of the entire genomes and paving the way for Personalized Medicine. We develop novel statistical methods and computational algorithms for multi-omics processing and integration, and leverage Big Genomic Data to elucidate various problems in precision health, such as genetic and epigenetic mechanisms of cancer development and progression, and clinical impact of functional variants.
Among the changes that occur during pregnancy, those affecting the breasts have been found to subsequently modify breast cancer risk. My laboratory investigates how the signals present during pregnancy permanently alter the way gene expression is controlled and how these changes affect normal and malignant mammary development.
Cancer cells are surrounded by immune cells, blood vessels, chemical signals and a support matrix—collectively, the tumor microenvironment. Most microenvironments help tumors grow and metastasize, but some can restrict tumors. My lab studies how to target the bad microenvironments and support the good ones to combat cancer.
My lab investigates how perception and cognition arise from changes in neural activity. We develop and apply computational methods to discover dynamic patterns in large-scale neural activity recordings. We then create mathematical models to explain how these activity changes emerge from signaling between neurons, ultimately driving behavior.Announcements The latest Impact Factors have been released and are updated in our site!
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From Molecular Case Studies: Novel gene variants identified in male breast cancer
Cold Spring Harbor Molecular Case Studies is an open-access, peer-reviewed, international journal in the field of precision medicine. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information.
The journal's purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches.
The journal covers the fields of cancer, complex diseases, monogenic disorders, neurological conditions, orphan diseases, infectious disease, gene therapy, and pharmacogenomics.
It has a rapid peer-review process that is based on technical evaluation of the analyses performed, not the novelty of findings, and offers a swift, clear path to publication. Sponsoring Association s. No associations affiliated with this journal. Publisher Name. Cold Spring Harbor Laboratory Press. It is an unbeatable aid when it comes to wise and efficient journal selection. Journals Congresses Associations. Medical Communications Leader.After 18 months he subsequently became resistant to the treatment and his disease progressed.
The authors then investigated why the patient benefited and subsequently developed resistance to this combination treatment using genomic and immunohistochemical analysis. Whole-exome sequencing was performed on pre-treatment and post-progression samples of the MBC patient, as compared to a whole blood normal control.
The researchers found that a region of Chromosome 12p was deleted in the resistant tumor and that HR protein expression was increased in the resistant tumor.
So, very few and small studies have been conducted in this disease. Media Contacts: The authors are available for more information by contacting: Dr. Davide Melisi davide. Articles in the journal present genomic and molecular analyses of individuals or cohorts alongside their clinical presentations and phenotypic information. The journal's purpose is to rapidly share insights into disease development and treatment gained by application of genomics, proteomics, metabolomics, biomarker analysis, and other approaches.
Sinceit has furthered the advance and spread of scientific knowledge in all areas of genetics and molecular biology, including cancer biology, plant science, bioinformatics, and neurobiology. The Press is a division of Cold Spring Harbor Laboratory, an innovator in life science research and the education of scientists, students, and the public.Cold Spring Harbor Laboratory Press was founded in to aid in Cold Spring Harbor Laboratory's purpose of furthering the advance and spread of scientific knowledge.
CSHL Press publishes monographs, technical manuals, handbooks, review volumes, conference proceedings, scholarly journals and videotapes. These examine important topics in molecular biology, genetics, development, virology, neurobiology, immunology and cancer biology.
Manuscripts for books and for journal publication are invited from scientists worldwide. The Cold Spring Harbor Press monograph series is a series of advanced comprehensive volumes giving the state of the art on the most important model organisms and suystems for research in molecular biology. CSHL Press has two operation centers. Its current executive director is John R.
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