Chromosomes

Boundless Bio Announces Educational Session on Extrachromosomal DNA (ecDNA) at the American Association for Cancer Research (AACR) Annual Meeting 2021

Retrieved on: 
Monday, May 17, 2021
General Health, Health, Science, Research, Oncology, Cancer, Clinical medicine, Medicine, Oncology, Carcinogenesis, DNA, Chromosomes, Cancer treatments, Extrachromosomal DNA, Oncogene, Centromere, Chemotherapy

b'Extrachromosomal DNA, or ecDNA, are distinct circular units of DNA lacking centromeres but containing functional genes, including oncogenes, that are separated from tumor cell chromosomes.

Key Points: 
  • b'Extrachromosomal DNA, or ecDNA, are distinct circular units of DNA lacking centromeres but containing functional genes, including oncogenes, that are separated from tumor cell chromosomes.
  • ecDNA replicate within cancer cells and can be passed to daughter cells asymmetrically during cell division, thereby constituting a primary driver of focal gene amplification and copy number heterogeneity in cancer.
  • By leveraging the plasticity afforded by ecDNA, cancer has the ability to increase or decrease copy number of select oncogenes located on ecDNA to enable survival under selective pressures, including chemotherapy, targeted therapy, immunotherapy, or radiation, making ecDNA one of cancer cells\xe2\x80\x99 primary mechanisms of recurrence and treatment resistance.
  • ecDNA are not found in healthy cells but are present in many solid tumor cancers.

Active Motif Partners with Arima Genomics to Launch End-to-End Hi-C Service

Retrieved on: 
Tuesday, February 9, 2021
Branches of biology, Genetic mapping, Biology, Genomics, Chromosome conformation capture, Chromosomes, Nuclear organization, Epigenetics, Omics, Genome, Genetics

Active Motif continues to offer the most comprehensive offering of epigenetic services in the industry, and this new Hi-C service gives researchers even more ways to analyze their samples.

Key Points: 
  • Active Motif continues to offer the most comprehensive offering of epigenetic services in the industry, and this new Hi-C service gives researchers even more ways to analyze their samples.
  • Active Motif has entered into an agreement with Arima Genomics, a leading company accelerating the spatial understanding of the genome, to launch their end-to-end Hi-C service as an Active Motif Epigenetic Service to serve academic, pharma, and clinical researchers.
  • "This is an important strategic collaboration for both organizations," said Fritz Eibel, Chief Commercial Officer at Active Motif.
  • "We are excited that Active Motif, a thought leader and major player in the epigenetics market, compared, validated, and selected Arima versus other options," said Siddarth Selvaraj, CEO of Arima Genomics.

Bionano Genomics' Saphyr System Shown to be Indispensable for the Analysis of Certain Genetic Disease Causing Variants

Retrieved on: 
Thursday, October 15, 2020
Branches of biology, Biology, Mutation, Molecular evolution, Chromosomes, Gene duplication, Structural variation, Optical mapping, Segmental duplication on the human Y chromosome

Only Bionanos optical mapping technology can image single molecules that are so long that they span the segmental duplications.

Key Points: 
  • Only Bionanos optical mapping technology can image single molecules that are so long that they span the segmental duplications.
  • These repetitive sequences can interact with each other when sperm or eggs are created and their rearrangement can cause severe genetic disease.
  • Several novel SVs were detected for each locus, and the exact disease causing rearrangement was determined with much higher accuracy than was formerly possible without Saphyr.
  • An increasing number of studies have relied on Bionanos Saphyr system to characterize disease-causing structural variants that could not be correctly analyzed with other molecular techniques.

German Accreditation of Laboratory Developed Tests on Bionano’s Saphyr System Accelerates Utilization in Clinical Diagnostics

Retrieved on: 
Thursday, September 24, 2020
Branches of biology, Genetics, Biology, Chromosomes, Cytogenetics, Chromosomal abnormalities, Structural variation, Gene duplication, Chromosomal translocation, Accreditation, Chromosomal inversion, MVZ

The approval accredits LDTs developed by MVZ Martinsried for the detection of the following types of structural variants (SVs): translocations, inversions and duplications.

Key Points: 
  • The approval accredits LDTs developed by MVZ Martinsried for the detection of the following types of structural variants (SVs): translocations, inversions and duplications.
  • Inversions and duplications are also often implicated in cancers and all three types are known to occur in constitutional genetic disorders.
  • "MVZ Martinsrieds receipt of this first European accreditation for use of Saphyr-based LDTs is an important milestone towards broader accreditation and adoption across Europe and other regions.
  • Achieving this accreditation in Germany, the largest market in Europe, is also significant because the German accreditation process follows a very high standard," said Erik Holmlin, chief executive officer of Bionano Genomics.

Bionano Genomics Announces Continued Expansion of European Business With Adoption of Saphyr at Three of Europe’s Largest Pediatric Hospitals in Spain, Italy and France

Retrieved on: 
Thursday, September 10, 2020
Branches of biology, Biology, Cytogenetics, Cell biology, Chromosomes, Evolutionary biology, Karyotype, Microarray

The three childrens hospitals aim to assess Saphyrs potential for use in diagnosing childhood leukemias versus current standards of care, including karyotyping, chromosomal microarray and FISH.

Key Points: 
  • The three childrens hospitals aim to assess Saphyrs potential for use in diagnosing childhood leukemias versus current standards of care, including karyotyping, chromosomal microarray and FISH.
  • We are thrilled to have these leading healthcare institutions incorporate Saphyr into their practices.
  • To date, Bionano has successfully driven adoption of its Saphyr system throughout some of the largest markets for medical research in Europe, including Germany, France, U.K. and Benelux.
  • Based on the companys track record of providing comprehensive assessments of leukemia via genome imaging, Bionano is now selling Saphyr in additional European markets.

Metastatic Lung Cancer Study Finds That Bionano’s Saphyr Outperforms NGS for the Detection of Structural Variants

Retrieved on: 
Monday, August 3, 2020
Branches of biology, Biology, Genetics, Chromosomes, Structural variation, Molecular biology, Biotechnology, Medical genetics

The study showed that Saphyr outperformed NGS-based methods in the detection of structural variants to characterize the genetic heterogeneity between the primary tumor and the matched metastases.

Key Points: 
  • The study showed that Saphyr outperformed NGS-based methods in the detection of structural variants to characterize the genetic heterogeneity between the primary tumor and the matched metastases.
  • Of 1026 large SVs detected on average by Saphyr in each of the tumor types, the NGS-based methods failed to detect an average of 77%.
  • Saphyr identified 52 SVs shared between the metastases, while no shared SVs were found by NGS-based methods.
  • The study authors stated that Saphyr is more capable of detecting large and complex SVs, without the computational and bioinformatic challenges that come with SV calling from NGS data.

Bionano Genomics Data is Essential Part of the First Ever Complete Assembly of a Human X-Chromosome

Retrieved on: 
Thursday, July 16, 2020
Branches of biology, Genetics, Chromosomes, Telomere, Locus, Genome

In a publication in Nature (Miga, K.H., Koren, S., Rhie, A.et al.Telomere-to-telomere assembly of a complete human X chromosome.Nature(2020).

Key Points: 
  • In a publication in Nature (Miga, K.H., Koren, S., Rhie, A.et al.Telomere-to-telomere assembly of a complete human X chromosome.Nature(2020).
  • Bionano data revealed this collapse and provided the authors with an accurate number of repeats for correcting this locus in the assembly.
  • Erik Holmlin, Ph.D, CEO of Bionano Genomics commented: We are pleased to be an essential part of this groundbreaking study on the first complete telomere-to-telomere assembly of a human chromosome.
  • Bionanos technology is unique compared to all the other methods used for this work in that it is not sequencing.

Data Presented at European Society of Human Genetics (ESHG) Conference Shows Saphyr System has 100% Concordance with Standard Cytogenetics in Leukemias and Constitutional Aberrations

Retrieved on: 
Thursday, June 11, 2020
Branches of biology, Genetics, Chromosomal abnormalities, Chromosomes, Chromosomal inversion, Chromosomal translocation, Cytogenetics

Additionally, he presented two research cases of families with undiagnosed genetic disorders, which were solved using the Saphyr system.

Key Points: 
  • Additionally, he presented two research cases of families with undiagnosed genetic disorders, which were solved using the Saphyr system.
  • In all six cases, the Saphyr system identified the pathogenic variants, including balanced and unbalanced translocations, a paracentric inversion and mosaic duplication.
  • In total 19 patient samples were analyzed, and the Saphyr system confirmed all known large rearrangements in these samples.
  • The Saphyr system showed 100% concordance with cytogenetic methods in these 40 samples and allowed for precise breakpoint mapping.

FDA Approves Elixirgen Therapeutics IND Application for Therapy for Telomere Biology Disorders with Bone Marrow Failure

Retrieved on: 
Thursday, June 4, 2020
Branches of biology, Biology, Life sciences, Stem cells, Biotechnology, Cell biology, Molecular biology, Chromosomes, Cell therapy, Bone marrow, Telomere, Hematopoietic stem cell

EXG34217 is an autologous cell therapy for telomere biology disorders with bone marrow failure.

Key Points: 
  • EXG34217 is an autologous cell therapy for telomere biology disorders with bone marrow failure.
  • This program's treatment paradigm uses Elixirgen Therapeutics' proprietary ZSCAN4 technology to extend the telomeres of the hematopoietic stem cells of the patients.
  • For more information visit https://ElixirgenTherapeutics.com
    This press release may contain "forward-looking" statements, including statements regarding the effectiveness of EXG34217 to treat telomere biology disorders with bone marrow failure and statements relating to the planned clinical trials of EXG34217.
  • Actual results may differ materially from those set forth in this press release due to the risks and uncertainties inherent in drug research and development.

Extra chromosomes in cancers can be good or bad

Retrieved on: 
Monday, February 24, 2020
Branches of biology, Genetics, Chromosomal abnormalities, Cytogenetics, Chromosomes, Oncology, Aneuploidy, Cancer, Chromosome, Anaphase lag, Chromosome instability

A tumor cell can contain an abundance of DNA mutations and most have the wrong number of chromosomes.

Key Points: 
  • A tumor cell can contain an abundance of DNA mutations and most have the wrong number of chromosomes.
  • As cancer progresses, so does aneuploidy.Some advanced tumors can harbor cells that have accumulated more than 100 chromosomes, instead of 46 in normal cells.
  • High levels of aneuploidy are associated with aggressive cancers and a poor prognosis for patients.
  • While survival is poorest among patients whose cancers have a high level of aneuploidy overall, the team identified certain chromosomes for which extra copies were associated with increased survival.