Chromosomal deletion syndrome

Bionano Reports Third Quarter 2023 Results and Highlights Recent Business Progress

Retrieved on: 
Wednesday, November 8, 2023
Spectrum, German Cancer Research Center, Aneuploidy, CMA, MCA, OEM, Sale, Genomics, DSM-IV codes, OGM, NMPA, WES, SVS, IVD, Publication, Rare, Polyploidy, CRISPR, Medtech, International Cancer Genome Consortium, Doctor of Philosophy, GAAP, Acquisition, Research, Poster, Karyotype, Lobotomy Corporation, Genome, Nature Communications, National Medical Products Administration, SNV calling from NGS data, Hospital, Annual general meeting, CGC, Workflow, Bone marrow, KT, CFO, Cancer, ASD, Total, VIA, IPSC, Chromosomal deletion syndrome, SAN, DNA, Outline, Beauty salon, Cryptocurrency, Video game, Vaccine, Management, Medical device, Pharmaceutical industry

Publications featuring OGM increased 61% from the third quarter of 2022 to the third quarter of 2023, including a total of 47 human-focused publications.

Key Points: 
  • Publications featuring OGM increased 61% from the third quarter of 2022 to the third quarter of 2023, including a total of 47 human-focused publications.
  • GAAP gross margin for the third quarter of 2023 was 30%, compared to 25% from the third quarter of 2022.
  • Third quarter 2023 non-GAAP¹ gross margin was 32%, compared to 25% from the third quarter of 2022.
  • Third quarter 2023 non-GAAP operating expense was $31.8 million, compared to $26.3 million in the third quarter of 2022 and $34.6 million in the second quarter of 2023.

Bionano Announces Publication Demonstrating Utility of OGM as an Alternative to KT and CMA for Evaluating CRISPR-Edited Cells as Part of Stem Cell Therapy Development

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Wednesday, August 30, 2023
CRISPR, CMA, IPSC, Genomics, KT, Nature Communications, Chromosomal deletion syndrome, Doctor of Philosophy, Karyotype, SAN, OGM, Vaccine

The study authors found that approximately 15% of CRISPR-Cas9 edited genomes (2 of 13) had potentially pathogenic large chromosomal deletions at unexpected off-target sites.

Key Points: 
  • The study authors found that approximately 15% of CRISPR-Cas9 edited genomes (2 of 13) had potentially pathogenic large chromosomal deletions at unexpected off-target sites.
  • In addition to those two off-target deletions, the authors reported a large, unexpected deletion at the target site.
  • “This study is an example of how OGM can be used as part of developing cell and gene therapies, including stem cell therapies.
  • The expansion of iPSC-mediated cell therapy faces risks due to off-target structural variations that may be introduced during CRISPR-Cas9 genome editing.

HuidaGene Therapeutics' Novel DNA Gene-Editing System Cas12i Patent Granted by USPTO

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Tuesday, May 16, 2023
SAB, Patent, DNA, CRISPR, Classification, PAM, Type 2, Gene editing, DSB, Rationality, Biomedical Research, Protein & Cell, Chromosomal deletion syndrome, Research, DSM-IV codes, Cell, RNA, Chromosomal rearrangement, AAV, Patient, Archaea, Apoptosis, Synergy, Entrepreneurship, Bacteria, AI, Viral, Therapy, Neurology, Protein, Cas12a, DNA repair, Vaccine, Pharmaceutical industry, Medical device, Cas9

Cas12Max® has the highest DNA editing efficiency in mammalian cells compared with Streptococcus pyogenes Cas9 (SpCas9) and Lachnospiraceae bacterium Cas12a (LbCas12a).

Key Points: 
  • Cas12Max® has the highest DNA editing efficiency in mammalian cells compared with Streptococcus pyogenes Cas9 (SpCas9) and Lachnospiraceae bacterium Cas12a (LbCas12a).
  • This fundamental patent covers multiple novel Cas12i proteins, and their variants and DNA editing uses thereof.
  • "My team has identified 10 novel Cas12i proteins through AI and deep ML of DNA sequencing and assembly prediction from metagenomic database followed by the identification of xCas12i through the fluorescent reporting system.
  • HuidaGene will continue to improve the CRISPR-based gene-editing technology and bring safe gene-editing therapies a reality for millions of patients worldwide.

HuidaGene Therapeutics' Novel DNA Gene-Editing System Cas12i Patent Granted by USPTO

Retrieved on: 
Tuesday, May 16, 2023
SAB, Patent, DNA, CRISPR, Classification, PAM, Type 2, Gene editing, DSB, Rationality, Biomedical Research, Protein & Cell, Chromosomal deletion syndrome, Research, DSM-IV codes, Cell, RNA, Chromosomal rearrangement, AAV, Patient, Archaea, Apoptosis, Synergy, Entrepreneurship, Bacteria, AI, Viral, Therapy, Neurology, Protein, Cas12a, DNA repair, Vaccine, Pharmaceutical industry, Medical device, Cas9

Cas12Max® has the highest DNA editing efficiency in mammalian cells compared with Streptococcus pyogenes Cas9 (SpCas9) and Lachnospiraceae bacterium Cas12a (LbCas12a).

Key Points: 
  • Cas12Max® has the highest DNA editing efficiency in mammalian cells compared with Streptococcus pyogenes Cas9 (SpCas9) and Lachnospiraceae bacterium Cas12a (LbCas12a).
  • This fundamental patent covers multiple novel Cas12i proteins, and their variants and DNA editing uses thereof.
  • "My team has identified 10 novel Cas12i proteins through AI and deep ML of DNA sequencing and assembly prediction from metagenomic database followed by the identification of xCas12i through the fluorescent reporting system.
  • HuidaGene will continue to improve the CRISPR-based gene-editing technology and bring safe gene-editing therapies a reality for millions of patients worldwide.

Taiho Oncology and Astex Pharmaceuticals Present Overall Survival Data for Oral Decitabine and Cedazuridine (INQOVI®, ASTX727) in Patients With MDS and CMML Harboring TP53 Mutations at 64th ASH Annual Meeting

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Monday, December 12, 2022
Pneumonia, Intracranial hemorrhage, Society, Research, Toxicity, Anemia, Aplastic anemia, Child, Acute kidney injury, Ōtsuka, NCCN, Woman, Patient, Sepsis, MDS, Bone marrow suppression, Risk, CMML, Thrombocytopenia, Fatal, Microdeletion syndrome, MLF, International Prognostic Index, AUC, MOS, Birth, Febrile neutropenia, Clinical trial, National Comprehensive Cancer Network, Abstract, Neutropenia, Creatinine, ESRD, Pregnancy, De novo, Decitabine, Chronic kidney disease, TP53, Confidence interval, ASH, Mutation, Chronic myelomonocytic leukemia, Route of administration, Internal medicine, Sudden death, LFS, Kidney, Septic shock, Myelodysplastic syndrome, Vanderbilt University, Astex, Chromosomal deletion syndrome, IV, Fetus, Pharmaceutical industry, Birth control, Epidemiology, MD

PRINCETON, N.J. and PLEASANTON, Calif., Dec. 12, 2022 /PRNewswire/ -- Taiho Oncology, Inc. and Astex Pharmaceuticals, Inc. today announced preliminary data from the Phase 3 ASCERTAIN trial assessing overall and leukemia-free survival in adults with intermediate and high-risk myelodysplastic syndromes (MDS) including chronic myelomonocytic leukemia (CMML) harboring biallelic TP53 mutations following treatment with oral decitabine and cedazuridine (ASTX727). The data are being presented today as an oral presentation (Abstract #854) at the 64th American Society of Hematology (ASH) Annual Meeting in New Orleans.

Key Points: 
  • The data are being presented today as an oral presentation ( Abstract #854 ) at the 64th American Society of Hematology (ASH) Annual Meeting in New Orleans.
  • In the study, the population of patients harboring a TP53 mutation (44 of 125 patients) was characterized by allelic status: 14 patients had biallelic mutations and 30 patients had monoallelic mutations without other chromosomal deletions.
  • The primary endpoint of the study was total 5-day area-under-the-curve (AUC) equivalence of oral decitabine and cedazuridine and IV decitabine.
  • Astex, the Astex logo, Taiho Oncology, the Taiho Oncology logo and INQOVI are registered trademarks of Otsuka Holdings Co., Ltd. or its subsidiaries.

CareDx Presents Latest Data on AlloSeq Portfolio at ASHI 2021

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Monday, September 27, 2021
Paradigm, NGS, University of Pennsylvania, Chromosomal deletion syndrome, Solution, HCT, MHC, Product, Precision medicine, Patient, Hematopoietic stem cell transplantation, Accuracy and precision, High, Caregiver, Transplant, Â, CEO, University, SAN, Stanford University, Myelocyte, VP, Post-transplant lymphoproliferative disorder, Laboratory, HLA, Nasdaq, Histocompatibility, Association, Society, GLOBE, Pharmaceutical industry, Aluminium, Medical device, Dentistry

ASHI will be held live in Orlando, FL as well as virtually from September 27-30, 2021.

Key Points: 
  • ASHI will be held live in Orlando, FL as well as virtually from September 27-30, 2021.
  • We are glad to continue supporting ASHI in delivering new solutions and data that can improve transplant patient care.
  • ASHI 2021 is one of the leading conferences for the HLA community to come together and share best practices, said Nick Brown, MD at University of Pennsylvania.
  • Additionally, CareDx will host a lunch symposium from 12 2 PM EST on Wednesday, September 29, 2021, titled Future of Transplant Solutions: Innovations across Pre- and Post-transplant Journey.

Rhythm Pharmaceuticals Presents New Data from Phase 2 and 3 Trials Evaluating Setmelanotide in Multiple Rare Genetic Diseases of Obesity at the 59th Annual ESPE Meeting

Retrieved on: 
Wednesday, September 22, 2021
Linda, EMANATE, Endocrine Society, Polyphagia, ESPE, Hunger, MC4R, Weight loss, Bardet–Biedl syndrome, Exercise, BBS, Patient, Pediatrics, Pediatric endocrinology, Microdeletion syndrome, Â, SRC1, Gene, SH2B1, Chromosomal deletion syndrome, Company, European Society of Gene and Cell Therapy, Diet, Obesity, Nasdaq, GLOBE, Department, Pharmaceutical industry

“In addition to presenting data from our Phase 2 and 3 trials of setmelanotide, we also presented posters at ESPE describing the gene selection process and the design of our Phase 2 DAYBREAK trial,” said Linda Shapiro, M.D., Ph.D., Chief Medical Officer of Rhythm. “We are excited to share these presentations, which provide further rationale for our planned clinical development strategy. Collectively, these presentations depict setmelanotide’s potential to deliver meaningful benefit – even without change in exercise or diet -- to people with obesity and variants in the SRC1 or SH2B1 gene, both of which are included in our Phase 3 EMANATE trial, and they support our decision to enroll people with obesity and variants in at least one of 31 other genes, all of which have ‘strong’ or ‘very strong’ MC4R pathway relevance, in our Phase 2 DAYBREAK trial. We look forward to initiating both EMANATE and DAYBREAK in the fourth quarter, which will evaluate setmelanotide on top of standard of care dietary and physical activity guidance, as we work to broaden setmelanotide’s reach to many more patients with rare genetic diseases of obesity caused by variants in the MC4R pathway.”

Key Points: 
  • Together, these data support the potential for further development of setmelanotide for patients with rare genetic diseases of obesity driven by a range of variants in the MC4R pathway.
  • Rhythm also presented complete topline data from two genetic cohorts in its exploratory Phase 2 Basket Trial.
  • Rhythm is a commercial-stage biopharmaceutical company committed to transforming the treatment paradigm for people living with rare genetic diseases of obesity.
  • Rhythm is advancing a broad clinical development program for setmelanotide in other rare genetic diseases of obesity.