Tag: medulloblastoma

Ryvu Therapeutics Reports Third Quarter 2023 Financial

The total operating revenues amounted to $11.9M and increased by 42% compared to Q3 2022. Updated data from Phase Ib study of RVU120 in AML/HR-MDS to be presented at the upcoming American Society of Hematology (ASH) Annual Meeting in December. Preparations for executing Phase II clinical trials of RVU120 in…

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Postdoctoral fellow in Bioinformatics/Genomics

Postdoctoral Position – Institut Curie Paris The Genomics and Development of Childhood Cancers lab (institut-curie.org/team/saulnier), headed by Olivier Saulnier is looking for one postdoctoral position researcher in bioinformatics. The team focuses on using cutting-edge high-throughput genomic approaches and genome-wide data analyses to study the spatio-temporal origins of pediatric brain tumors….

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The Atoh1-Cre Knock-In Allele Ectopically Labels a Subpopulation of Amacrine Cells and Bipolar Cells in Mouse Retina

Abstract The retina has diverse neuronal cell types derived from a common pool of retinal progenitors. Many molecular drivers, mostly transcription factors, have been identified to promote different cell fates. In Drosophila, atonal is required for specifying photoreceptors. In mice, there are two closely related atonal homologs, Atoh1 and Atoh7….

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MGA-seq: robust identification of extrachromosomal DNA and genetic variants using multiple genetic abnormality sequencing | Genome Biology

Zack TI, Schumacher SE, Carter SL, Cherniack AD, Saksena G, Tabak B, Lawrence MS, Zhang C-Z, Wala J, Mermel CH. Pan-cancer patterns of somatic copy number alteration. Nat Genet. 2013;45:1134–40. Article  CAS  PubMed  PubMed Central  Google Scholar  Dixon JR, Xu J, Dileep V, Zhan Y, Song F, Le VT, Yardımcı…

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Does Pain When I Run Mean I Need Days Off?

Runners are a persistent bunch with goals to conquer and PRs to smash. That could explain why so many runners have stories of when they experienced an ache, kept running through it, and then ended up with an injury that put them on the sidelines for months. A better approach…

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The Age of Aquarius – RNA, the Epicenter of Genetic Information

The veil on genetic information was lifted by the advent of gene cloning and sequencing technologies in the 1970s. The discovery and purification of bacterial nucleases capable of cutting DNA at specific sequences and ligases capable of joining them enabled DNA from any species – or mRNAs converted to complementary…

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Ultra-fast deep-learned CNS tumour classification during surgery

Data simulation Short nanopore sequencing runs yield sparse and random coverage of the genome. To enable model training, we generate simulated sparse nanopore runs based on microarray data. To this end, N simulated reads are randomly sampled from the read length distribution (D) and assigned a start mapping position in…

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A biobank of pediatric patient-derived-xenograft models in cancer precision medicine trial MAPPYACTS for relapsed and refractory tumors

Patient characteristics and PDX establishment Between February 2016 and July 2020, 787 pediatric, adolescent and young adult patients with recurrent or refractory malignancies were enrolled in the MAPPYACTS trial;2 756 (96%) patients and their parents consented to the optional ancillary study of preclinical model development (Fig. 1a). 744 patients had a…

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NIH awards $3.2 million to study how unique DNA circles drive deadly pediatric brain tumors

Lukas Chavez, Ph.D., has received $3.2 million from the National Institutes of Health to study how unique DNA circles found in cancer cells drive deadly pediatric brain tumors. The research aims to expose how the circular pieces of DNA contribute to therapy resistance and open new therapeutic avenues to improve…

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Novel protein products encoded by upstream open reading frames of the MYCN gene in pediatric embryonal tumors

The MYCC and MYCN loci are each associated with two upstream open reading frames (uORFs) potentially encoding small proteins (9-21 kDa). We previously demonstrated that uORFs mrtl and MYCHEX1 of MYCC are translated, and their protein products may function to regulate the expression of the “parent” oncogene. We hypothesized that…

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A 15-year-old childhood cancer survivor becomes a cancer researcher

Robert McCabe of Anchorage, Alaska, is a 15-year-old avid bowler, a fan of baseball and basketball, and a rising high school sophomore who hopes to be an engineer one day. He is also a pediatric cancer survivor, and most recently, a pediatric cancer researcher. This summer, he helped to sequence…

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A childhood cancer survivor becomes a cancer researcher

Robert McCabe of Anchorage, Alaska, is a 15-year-old avid bowler, a fan of baseball and basketball, and a rising high school sophomore who hopes to be an engineer one day. He is also a pediatric cancer survivor, and most recently, a pediatric cancer researcher. This summer, he helped to sequence…

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Mitochondrial DNA mutations in Medulloblastoma | Acta Neuropathologica Communications

Based on this case, we raised the question of whether there might be a connection between pathogenic mtDNA variants and MB occurrence or phenotype. We analysed mtDNA variants in MB, employing whole-genome sequencing data of 491 patients from the ICGC cohort and 57 formalin-fixed paraffin-embedded human G3/G4 MB tumour samples…

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Incorporating Molecular Testing for Gliomas Into Clinical Practice

Craig Horbinski, MD, PhD, director of neuropathology in the Department of Pathology, professor of pathology, neurological surgery, and neuropathology, Feinberg School of Medicine at Northwestern University, discusses the classification of gliomas based on histology and molecular features. The importance of molecular and genetic testing is highlighted in the updated guidelines…

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DESeq2 on multilevel design variable

Hello, I am working with RNA-seq data and using DESeq2 to perform differential expression analysis. My design has a single factor, diagnosis, which is a multi-level factor with six different diagnoses: ‘Craniopharyngioma’, ‘ATRT’, ‘Ependymoma’, ‘Glioblastoma’, ‘Glioma’, and ‘Medulloblastoma’. My design is as follows: dds <- DESeqDataSetFromMatrix(countData = count_data, colData =…

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Owens Foundation awards projects for cancer and Alzheimer’s research

  The William and Ella Owens Medical Research Foundation is awarding $1.5 million to UT Health San Antonio to support research projects that address brain cancers, pancreatic cancers, Alzheimer’s disease and childhood cancers. This year, the foundation will fund eight research projects from UT Health San Antonio investigators. This year’s…

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Updates to NCCN Guidelines for CNS Cancers Pinpoint the Importance of Testing

Updated guidelines from the National Comprehensive Cancer Network (NCCN) underscore the importance of molecular and genetic testing for patients with central nervous system (CNS) cancers. This testing provides diagnostic and prognostic information that allows oncologists to administered individualized treatment.1 These updates focus on the management of the numerous CNS cancers,…

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Five recent advancements in brain tumor research

In 2023, it is estimated that 24,810 adults in the U.S. will be diagnosed with a primary malignant tumor of the brain and spinal cord. There is currently no cure for brain tumors and current treatment options are mostly limited to surgery, radiation therapy and chemotherapy. However, there is a…

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The secrets of the human genome: researchers uncover clues

Humans have only just scratched the surface when it comes to understanding our genome. The massive new Zoonomia project, however, has revealed the importance of studying the genomes of other mammals, such as bumblebee bats, cheetahs and hippos, in order to better understand our own. By comparing the DNA of…

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Bats, Cheetahs and Hippos Unlock Mysteries of the Human Genome

Comment on this storyComment Humans like to think we have a monopoly on understanding ourselves — that explanations for all our inner workings, including when things go awry, lie within our genetic code. We might like to think that, but we’re wrong. Whether it’s the diminutive bumblebee bat, the lightning-fast cheetah…

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How 240 Mammal Species Help Explain Human Disease Risks

A significant international study examining the genomes of 240 mammals has revealed over three million key regulatory elements, advancing understanding of mammalian evolution, species-specific traits, disease predispositions, and risk of extinction. The findings, which could improve understanding and treatment of diseases like schizophrenia, asthma, and medulloblastoma, underscore that at least…

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Ambitious genome project shows how humans fit with other mammals

Scientists on Thursday unveiled the results of a project comparing the genomes of 240 mammal species – from aardvarks and aye-ayes to zebus and zebras, as well as people – to trace evolutionary changes spanning 100 million years, pinpointing genetic traits widely shared and those more uniquely human. The findings…

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A Genomic Odyssey Across 240 Mammalian Species Explains Human Disease Risks and More

The Zoonomia Project has documented the genetic diversity in 240 mammalian species, covering over 80% of mammalian families. By sequencing and aligning the genomes, the team has identified conserved genomic regions across species, highlighting areas that may be biologically significant, but do not code for proteins. Their research suggests that…

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ALT Plays Role in Treating CNS Tumors: CHOP Studies

Kristina A. Cole, MD, PhD Two recent papers from researchers in the Children’s Hospital of Philadelphia (CHOP) Cancer Center have advanced the understanding of treatment-resistant pediatric tumors, both in assessing a novel treatment and in characterizing the role of alternative lengthening of telomeres (ALT) in these refractory tumors. The first…

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A New, Broader Genomic View

Instead of just piecing together short bits of a genome through short-read genomic sequencing, EMBL researchers used long-read nanopore sequencing to gain a more comprehensive understanding of DNA mutation connected to a cancer genome. Credit: Joana Gomes Campos de Carvalho/EMBL Researchers seeking to gain deeper insights into the relationship between…

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Medulloblastoma Long-Read Sequences Reveal Complex Rearrangements, Methylation Changes

NEW YORK – With long-read genome sequencing on pre- and post-treatment samples from a childhood brain tumor type called medulloblastoma, a research team from the European Molecular Biology Laboratory (EMBL), the German Cancer Research Center (DFKZ), and elsewhere tracked down new tumor rearrangement and epigenetic patterns that subsequently turned up…

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Fat-burning molecule may be promising target

FOR IMMEDIATE RELEASE Research from Johns Hopkins Kimmel Cancer Center experts revealed a type of RNA, previously considered to be “junk,”  that may help doctors distinguish and treat a subgroup of patients with medulloblastoma. Medulloblastoma is the most common malignant brain tumor in children, accounting for about 20% of all…

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FLI1 and FRA1 transcription factors drive the transcriptional regulatory networks characterizing muscle invasive bladder cancer

Sung, H. et al. Global Cancer Statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J. Clin. 71, 209–249 (2021). Article  PubMed  Google Scholar  Sanli, O. et al. Bladder cancer. Nat. Rev. Dis. Prim. 3, 17022 (2017). Article  PubMed  Google Scholar  International…

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KDM6B protects T-ALL cells from NOTCH1-induced oncogenic stress

doi: 10.1038/s41375-023-01853-9. Online ahead of print. Nancy Issa  1 , Hassan Bjeije  1 , Elisabeth R Wilson  1 , Aishwarya Krishnan  1 , Wangisa M B Dunuwille  1 , Tyler M Parsons  1 , Christine R Zhang  1 , Wentao Han  1 , Andrew L Young  1 , Zhizhong Ren  2 , Kai Ge  2 , Eunice S Wang  3 , Andrew…

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Human fetal cerebellar cell atlas informs medulloblastoma origin and oncogenesis

Wang, J., Garancher, A., Ramaswamy, V. & Wechsler-Reya, R. J. Medulloblastoma: from molecular subgroups to molecular targeted therapies. Annu. Rev. Neurosci. 41, 207–232 (2018). Article  CAS  PubMed  Google Scholar  Cavalli, F. M. G. et al. Intertumoral heterogeneity within medulloblastoma subgroups. Cancer Cell 31, 737–754.e736 (2017). Article  CAS  PubMed  PubMed Central …

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Specific stem cell protein found to be involved in the recurrence of medulloblastoma

The malignant brain tumor type medulloblastoma can become resistant to therapy which can cause relapse. Researchers at Uppsala University have discovered a certain protein that makes tumor cells resting and insensitive to radiation treatment. The research group hopes that the results could eventually lead to better treatments for children that…

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Microarray analysis and functional prediction of differentially expressed circular RNAs in acquired middle ear cholesteatoma | BioMedical Engineering OnLine

1. Castle JT. Cholesteatoma pearls: practical points and update. Head Neck Pathol. 2018;12(3):419–29. Article  Google Scholar  2. Xie S, Wang X, Ren J, Liu W. The role of bone resorption in the etiopathogenesis of acquired middle ear cholesteatoma. Eur Arch Otorhinolaryngol. 2017;274(5):2071–8. Article  Google Scholar  3. Bhutta MF, Williamson IG,…

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Bioconductor – MethPed

    This package is for version 3.4 of Bioconductor; for the stable, up-to-date release version, see MethPed. A DNA methylation classifier tool for the identification of pediatric brain tumor subtypes Bioconductor version: 3.4 Classification of pediatric tumors into biologically defined subtypes is challenging and multifaceted approaches are needed. For…

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