We provide access to reliable, safe and effective solutions by using human genome next-generation sequencing technologies, to enable Precision Medicine for individuals and healthcare professionals, in the diagnosis and biomarker discovery to support targeted therapy strategies on chronic/rare diseases and cancer, by providing the highest level of flexibility and customization according to their needs.
By harnessing the power of genomics and applied biotechnology, we make medical genetics flexible, affordable and accessible to deliver diagnostic and precision medicine that improves the everyday lives of those around us. All of this is done by working side-by-side with every one of our clients, driven by meaningful relationships, passion, and purpose.
Our team of medical experts has developed reliable, comprehensive and actionable genetic tests, using next-generation sequencing of the genome and individual cells by using any of our 18000+ genes.
Currently, we are developing next-generation medicines for people suffering from cancer, chronic and rare diseases worldwide. We change the genetic expression by editing certain DNA sequences by applying CRISPR-Cas technologies.
The most advanced next-generation sequencing platforms
Diploide is a leading provider of genomic services and solutions with next-generation NGS with the most extensive experience in bioinformatics, and the most advanced sequencing capability in the world.
We offer a wide range of next-generation sequencing services with the world's largest portfolio of genetic testing panels, enhanced with the ability to develop algorithms, chips, specific and / or specialized arrangements for medical institutions, research institutions and other partners. Public and private.
We participate in development of CRISPR platforms that use gene editing; A revolutionary approach to drug development. Advances in this technology have allowed us to modify almost any gene in human cells, which means that we will soon be able to treat a wider range of diseases.
CRISPR (pronounced "crispier") is an acronym for "Clustered, regularly spaced, short palindromic repeats" and refers to a newly developed gene editing technology, which can review, eliminate and replace DNA in a highly precise manner. CRISPR is a dynamic and versatile tool that allows us to access and edit almost any sequence in the genome and has the potential to help us develop medications for people with a wide variety of diseases. We see CRISPR as a "platform" technology with the ability to edit DNA in any cell or tissue.
Artificial intelligence applied to the health sciences
We synthesize biomedical knowledge and experience in biomarkers to guide their strategic planning. Artificial intelligence allows researchers to establish an effective differentiation or combination of biomarkers, to recruit the right patients and identify the best complementary diagnostic and therapeutic opportunities , including Radiomics.
CAP & CLIA certified laboratories
DNA sequencing is performed in laboratories in the US, Canada, Asia and Europe, which are certified to meet CAP and CLIA standards.
A laboratory certified by CAP and CLIA must meet certain quality standards, including qualifications for people performing genetic tests and other standards that guarantee the accuracy and reliability of the results.
Diploide Genetics continues to advance the optimization of the current platform and participates in research with the academia and scientific community worldwide, to integrate new technologies supported by artificial intelligence (AI), which will accelerate the participation of new candidates in the development of next-generation medicines and therapies.
Genetic testing can help guide some of the most important decisions in your patients' lives. Diploide makes it easy.
Our easy-to-order panels conform to professional guidelines, making the next steps clear. Plus, Diploide offers affordable pricing options for payment.
Our molecular genetics program integrates our directed genomic sequencing panels with artificial intelligence and machine learning to increase the accuracy of applied bioinformatics.
This atheistic approach takes advantage of machine learning to navigate the genomic search space to allow discoveries beyond the capacity of human intuition.
Our cancer genomics program is supported by an analysis platform that implements the curation of genomic data and management tools through machine learning to accelerate your cancer research projects, from the discovery of cancer biomarkers, the identification of new objectives and the validation of objectives, until the repositioning of medicines and the discovery of indications.
We provide next-generation sequencing services on next-generation sequencing platforms (NGS), including proprietary technology platforms that offer quality data at unbeatable prices for a wide variety of sequencing services and clinical applications. We offer our customers and partners a reliable, cost-effective and expert service for all outsourced sequencing needs.
Individual cell sequencing is a new technology for amplifying and sequencing DNA / RNA at the level of individual cells. The powerful bioinformatic analyzes allow us to obtain information about cell-cell heterogeneity, the difference in cell population and cell evolution. Unicellular genomics will help to discover cell lineage relationships; single cell transcriptomics will supplant the approximate notion of cell types based on markers. More here
In gene therapy, the effect of a mutation is compensated by inserting a "healthy" version of the gene, and the disease-related genes remain in the genome.
Diploide Genetics is working with several partners worldwide to develop genomic medications for a variety of diseases, many of which currently have no medications available.
Learn more here.
Single Cell Sequencing
Next Generation Sequencing
Next generation sequencing (NGS), allows a better understanding of genetic diseases and has become a significant technological advance in the practice of diagnostic and clinical medicine. NGS allows the analysis of multiple regions of the genome in a single reaction and has been shown to be a cost effective and efficient tool in the investigation of patients with genetic diseases.
NGS technology has high speed and performance, both quantitative and qualitative sequence data, equivalent to human genome project data, in 10-20 days. Numerous different methods are used in which NGS is being applied to identify the causative genetic variant in rare diseases. Complete exome sequencing (WES), complete genome sequencing (WGS), methyloma sequence, transcriptome sequence and other forms of sequencing are used in NGS methods.
There is a growing number of reports that identify the causal variants of the diseases. More than 100 causative genes have been identified in various Mendelian diseases by the exome sequencing method. In addition to the discovery of disease genes that are dominant and recessive, WES has been applied to determine somatic mutations in tumors and rare mutations with moderate effect on common disorders, as well as clinical diagnoses.
Because cancer is a genetic disease caused by hereditary or somatic mutations, new DNA sequencing technologies will have a significant effect on the detection, management and treatment of the disease. NGS is enhancing collaborative efforts worldwide, including the Cancer Genome Atlas (TCGA) project and the International Genome Consortium (ICGC), to catalog the genomic landscape of thousands of cancer genomes in many types of diseases using complete exome sequencing (WES).
However, the largest study ever to analyze complete tumor genomes has provided the most complete picture to date of how DNA failures drive tumor cell growth. The researchers say the results, published today in six articles in Nature and 17 in other journals, could pave the way for complete genome sequencing of all patients' tumors. Such sequences could then be used in an effort to bind each patient with a molecular treatment.
Previously published studies, such as those of the US-funded Cancer Genome Atlas (TCGA). In the US, they originally analyzed only the "exome", the protein-encoding DNA that constitutes only 1% of the tumor genome because it was cheaper and easier. But this shortcut left aside many changes that could boost cancer growth. With the fall in DNA sequencing costs, the TCGA and the International Genome of Cancer Consortium turned to the entire genome (WGS) about 10 years ago, sequencing the 3 billion base pairs of DNA, including regulatory regions within the non-coding DNA, for many tumor samples. These groups also sought large rearrangements and other structural changes that are not found in the exome.
The Pan-Cancer Analysis of Whole Genomes (PCAWG) project, which featured a cast of more than 1300 scientists and doctors around the world, analyzed 2658 complete genomes for 38 types of cancer, from the breast to the liver.
Companion Diagnostics (CDx)
Companion diagnostics can be performed on a tissue biopsy or blood sample using different genomic (e.g., next-generation sequencing, qPCR) or protein-based (e.g., immunohistochemistry) technologies.
In the case of cancer, a companion diagnostic test can identify whether a patient's tumor has a specific genomic abnormality, such as a mutation or altered expression of a protein that is predictive of increased therapeutic drug efficacy.
Take HER2, a very aggressive form of breast cancer (12-20% of all breast cancers): when the HER2 receptor is predominant, it causes cancer cells to proliferate. An early biopsy of the tumor will show overexpression of this protein. Therefore, doctors can administer an anti-HER2 treatment to maximize the chances of curing the disease. A complementary test based on the level of HER2 expression should be performed before starting treatment with this drug.
BRAF testing is performed to look for genetic changes in tumors (genomic alterations) that are present in some types of cancer, such as metastatic melanoma, lung cancer and colon cancer, among others. If positive, the presence of a BRAF mutation can help guide treatment (such as drugs that target BRAF mutations), estimate prognosis, etc. The test can be performed by different techniques, such as immunohistochemistry or complete genetic profiling, and can be performed on a tumor sample or by blood test (liquid biopsy).
Single Cell Sequencing
Single Cell Gene Expression
Advances in the coming decades will transform the world. We accelerate this progress by driving fundamental research in life sciences, including oncology, immunology and neuroscience.
We go beyond the traditional analysis of gene expression to characterize cell populations, cell types, cell states and more, cell by cell. From the evaluation of tumor heterogeneity and the composition of stem cells, to the dissection of neuronal populations: the technological advances provided by the gene expression solution of individual chromium cells, together with turnkey software tools, allow the creation of High complexity libraries from individual cells to maximize knowledge of any type of sample.
Single Cell Immune Profiling
With our simplified workflows, you can move from sample preparation to library, immune sequencing and software analysis, revealing information about the diversity of T and B cells, V (D) J recombination and the profile of immune cells From research in immunology and immuno-oncology to the investigation of infectious diseases and more, these solutions will accelerate the understanding of the adaptive immune system.
Assay for Transposase Accessible Chromatin
The ATAC Single Cell solution also includes intuitive software analysis and visualization tools for a refined analysis of gene regulatory networks in individual cells. The single-cell chromium ATAC solution can be used to study developmental plasticity, cellular heterogeneity and more.
Cas9 endonuclease has become a popular tool for targeted gene editing in eukaryotic systems [1-3]. With the use of a target-specific CRISPR RNA (cRNA) and a transactivating cRNA (tracrRNA), or a fused format called single guide RNA (gRNA), the Cas9 endonuclease can attack locations within complex mammalian genomes to obtain a double rest stranded. These ruptures can be repaired by endogenous DNA repair mechanisms through a process collectively known as non-homologous final binding (NHEJ). Because the NHEJ is prone to errors, genomic (indel) deletions or insertions can occur that create framework changes and premature termination to permanently silence the target genes.
DNA-free CRISPR-Cas9 Gene Editing
What does the CRISPR-Cas9 gene edition "without DNA" really mean? It means that your system does not use CRISPR-Cas9 components in the form of DNA vectors; Each component is RNA or protein. Starting with Cas9 mRNA or purified Cas9 protein as a source of expression of Cas9 nuclease in genome engineering experiments has advantages for some applications. Why? The use of DNA-based Cas9 or guide RNA expression systems entails the possibility of undesirable genetic alterations due to the integration of plasmid DNA at the cut-off site or integrations of random lentiviral vectors. For this reason, a gene editing system without DNA can be a good option to create designed cell lines.
Homology-directed repair (HDR)
CRISPR-Cas9 induced double chain disruption can also be used as an opportunity to create a knockin, rather than a knockout of the target gene. The precise insertion of a donor template can alter the coding region of a gene to "fix" a mutation, introduce a protein tag or create a new restriction site. We have shown that single-stranded DNA can be used to create precise insertions using synthetic crRNA and tracrRNA with Cas9 nuclease. Alternatively, the activity of Cas9 can be altered to dent instead of performing a double-stranded cut. Casase Nickase can be used with a pair of RNAcr complexes: tracrRNA or sgRNA targeting two closely spaced regions on opposite strands, and when used with a short double stranded DNA, homology directed repair can be performed.
Nutrigenomics & Epigenetics
For optimal health, the body needs the proper balance of nutrients, environment and lifestyle to function properly. This means that incorrect habits and food choices can contribute to symptoms, which are often the first warning signs of developing health problems.
Our nutrigenomic panels reveal how genes impact weight loss and body composition, nutrient metabolism, heart health, performance, fertility, food intolerances, eating habits, risk of injury, propensity to chronic degenerative diseases and skin health among many other genetic aspects.
Diploide Genetics is also committed to supporting scientific research to strengthen our understanding of the role of nutrition in human health alongside Mayo Clinic, Cleveland Clinic, Andresen Center, University of Toronto, Berkeley University, UCLA and Broad Institute.