The recent developments in biotechnology are the emerging science of "omics"- genomics, proteomics, transcriptomics and metabolomics. The state of the art sequencing technology has led to the deciphering of whole genome sequences of various microbes, plant, human and animals. The outcomes of genomics in the form of various genes, gene fragments, single nucleotide polymorphism, promoters and other regulatory sequences are a subject matter for patents based on its applications spanning agricultural, biomedical and industrial sectors. The patenting of genes and sequences is a debatable issue which has led to several controversies over recent years. With the accumulation of huge amount of sequences in various databases as a result of various genome sequencing projects worldwide, there is an immediate need for clarification of patenting genes and sequences. This review article gives an insight into patents based on development of genomics highlighting some of the patents based on deoxyribonucleic acid, genes, sequences and other related genetic material and gene technologies. Patents on single nucleotide polymorphism, stem cells, biomarkers for cancer diagnosis and treatment, microbial genes and plant genes are also discussed.
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http://dx.doi.org/10.2174/187221512801327415 | DOI Listing |
Am J Case Rep
January 2025
Department of Neonatology, The Fifth Affiliated Hospital of Zunyi Medical University, Zhuhai, Guangdong, China.
BACKGROUND Cleidocranial dysplasia (CCD) is a rare (1: 1 000 000) autosomal dominant congenital skeletal dysplasia characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. Only a minority of the cases are diagnosed early after birth. We present another case of proven CCD presenting with typical neonatal phenotype to promote awareness of this rare disorder.
View Article and Find Full Text PDFNat Med
January 2025
Vall d'Hebron Hospital Campus and Vall d'Hebron Institute of Oncology (VHIO), University of Vic - Central University of Catalonia, Barcelona, Spain.
Encorafenib + cetuximab (EC) is approved for previously treated BRAF V600E-mutant metastatic colorectal cancer (mCRC) based on the BEACON phase 3 study. Historically, first-line treatment of BRAF V600E-mutant mCRC with chemotherapy regimens has had limited efficacy. The phase 3 BREAKWATER study investigated EC+mFOLFOX6 versus standard of care (SOC) in patients with previously untreated BRAF V600E mCRC.
View Article and Find Full Text PDFNPJ Digit Med
January 2025
Graduate School of Data Science, Seoul National University, Seoul, Republic of Korea.
Polysomnography (PSG) is crucial for diagnosing sleep disorders, but manual scoring of PSG is time-consuming and subjective, leading to high variability. While machine-learning models have improved PSG scoring, their clinical use is hindered by the 'black-box' nature. In this study, we present SleepXViT, an automatic sleep staging system using Vision Transformer (ViT) that provides intuitive, consistent explanations by mimicking human 'visual scoring'.
View Article and Find Full Text PDFNPJ Precis Oncol
January 2025
Eötvös Loránd University, Department of Physics of Complex Systems, Budapest, Hungary.
Patients with High-Grade Serous Ovarian Cancer (HGSOC) exhibit varied responses to treatment, with 20-30% showing de novo resistance to platinum-based chemotherapy. While hematoxylin-eosin (H&E)-stained pathological slides are used for routine diagnosis of cancer type, they may also contain diagnostically useful information about treatment response. Our study demonstrates that combining H&E-stained whole slide images (WSIs) with proteomic signatures using a multimodal deep learning framework significantly improves the prediction of platinum response in both discovery and validation cohorts.
View Article and Find Full Text PDFJ Prev Alzheimers Dis
February 2025
Department of Biostatistics, Boston University School of Public Health, Boston, MA 02118, USA. Electronic address:
Background: Protein abundance levels, sensitive to both physiological changes and external interventions, are useful for assessing the Alzheimer's disease (AD) risk and treatment efficacy. However, identifying proteomic prognostic markers for AD is challenging by their high dimensionality and inherent correlations.
Methods: Our study analyzed 1128 plasma proteins, measured by the SOMAscan platform, from 858 participants 55 years and older (mean age 63 years, 52.
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