A gateway to a better understanding of disease pathogenesis.

As technology in genomic analysis has enhanced, so has our ability to learn about DNA, RNA, and how they react as we age. With recent developments, we can provide more precise medicine and utilize transcriptomics as a gateway to a better understanding of disease pathogenesis. 

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What is Transcriptomics?

Transcriptomics is the study of the transcriptome, that covers all RNA transcripts including the mRNA, non-coding RNA, and small RNAs, produced by the genome. The goal of transcriptomics is to detect which genes are expressed in the given sample. By collecting and comparing transcriptomes of different types of cells, clinicians can gain a deeper understanding of what makes a specific cell type, how that type of cell conventionally functions, and how changes in the regular level of gene activity contribute to disease.

In the ’90s this field was originated to study gene expression. Gene expression is defined as the conversion of DNA into protein by the process of transcription and translation. DNA is first transcribed into mRNA which is then translated by cells into different proteins. This phenomenon is known as the central dogma of molecular biology.  

 All RNAs are not translated into proteins. Some remain in the cell and serve different functions. Like rRNA (Ribosomal RNA) is a structural RNA and makes up the ribosome. They are also transporters like tRNA (transfer RNA) and transports amino acids for the formation of proteins. Some are also regulatory which include siRNAs and IncRNAs. If the gene is abnormally expressed, then abnormal mRNA transcript and ultimately abnormal protein will form. These things are studied in transcriptomics and also in genomics and proteomics.

Techniques used in Transcriptomics:

The two techniques used in transcriptomics are microarrays and RNA sequencing (RNA-Seq). Microarray is a lab technique used for the detection of the expression of thousands of genes in a single reaction quickly and efficiently. The quantity and sequences of RNA in a sample can be examined using RNA sequencing which is a Next-Generation Sequencing (NGS). 

Microarray: Microarray technology was created by a team led by Dr. Schena at Stanford University. This high-tech technology has revolutionized medicine by giving us insight into the human genome. Microarrays are used for analyzing transcriptomes. It is used to detect the expression of thousands of genes at a time. They detect only known sequences. They are not used for the discovery of new sequences. Microarrays are a recent technology and are used for cancer research. It is also used for drug development and clinical research. A part of the genome with missing or extra genetic information can be detected using Microarrays.

RNA sequencing: It analyses the transcriptome of gene expression and allows us to discover and investigate the transcriptome. This technique tells the scientists which genes are on and which are off. Also, it determines the level of expression of genes in a cell. RNA helps to determine the biology of the cell. If any unusual changes are present in sequencing, a disease is indicated. The techniques in which RNA sequencing is used are transcriptional profiling, SNP identification, RNA editing, and differential gene expression analysis. RNA sequencing is a revolutionary tool for transcriptomics. RNA-Seq uses deep-sequencing technologies. 

Precision Medicine: In precision medicine, clinicians look at your bio-individuality, environment, lifestyle, and more to select the optimal therapy for you. Genomics and transcriptomics involved in precision medicine can be used for determining the accurate and reliable treatment for different diseases. For the determination of disease pathways and accurate treatments, a study of genomics and transcriptomics is essential.

Applications of Transcriptomics in Medicine:

Stem Cell and Cancer Research: Intratumor heterogeneity is a challenge to the treatment of cancer as it shows therapeutic resistance and undergoes metastasis. (Spread of cancer) Transcriptomics helps in the identification of such types of aspects in cancer research. A highly heterogeneous disease, Cancer, is driven by molecular aberrations at the genetic, epigenetic, transcriptomic, and protein levels. 

Transcriptomics combined with proteomics is one of the most promising approaches for the investigation of stem cell biology. Stem cells have the property of self-renewal and differentiation and so the mechanisms that regulate these processes are widely studied. Stem cell studies using transcriptomics will promote the clinical applications of stem cells. 

  • Embryogenesis and In-vitro Fertilization: The development of an embryo after fertilization of sperm with egg is called Embryogenesis. In vitro is the artificial technique for producing offspring. In In-vitro fertilization, mRNA is injected into the zygote and so transcriptomics is involved in this process.
  • Characterization of non-coding RNAs:  Non-coding RNAs are those molecules that are not translated into proteins. Non-coding RNAs have been found in various biological and pathological processes. Transcriptomics is used to find the role of these RNAs in any disease.
  • Detection of Transposable Elements in Genome: The sequence of DNA that can change its position within the genome is called a transposable element. It can create or reverse mutations and can also alter the cell genome’s size. Transcriptomics is used for the detection of transposable elements in the genome.
  • To produce Epigenetic Alterations: Epigenetics is the inherited genetic alterations that are not the result of changes in DNA sequence. At the level of transcription, genetic expression is influenced by epigenetic processes.
  • Role in Precision Medicine: In transcriptomics, it is studied how living organisms and their transcriptomes respond to diseases and environmental factors. The study of transcriptomes is very important in discovering the pathways of disease and for the development of effective drugs. The difference in the same disease has been studied in different people at the genomic level. In the early stage of disease, precision medicine can play a preventive and predictive role. 
  • Pharmacogenomics: The effects of genetic differences on drug metabolism are studied in Pharmacogenomics. It is one of the important applications of Transcriptomics. Due to genetic differences, different individuals respond differently to the drug. According to the genotype of the person most appropriate dosage is prescribed to the patient. Transcriptomics helps in Pharmacogenomics studies and processes.
  • Role in Disease Determinants and Causes: Screening of diseases and their causes can be determined using transcriptomics. This is of great use as this helps in the detection of complex diseases like breast cancer, acute myeloid leukemia, and cardiovascular diseases.  

Future of Healthcare

Transcriptomics is one of the fields undergoing massive research as researchers aim to understand better how changes in transcriptional activity can influence disease. In transcriptomics, the focus is on the mRNA of the gene expression. Causes of genetic disorders can be identified using transcriptomics. RNA analysis helps in the determination of disease and treatment markers and also the response of the genome to different drugs for treatment purposes. 

At the Institute for Human Optimization, we are currently utilizing advanced molecular testing to predict how genes are theoretically behaving by assessing their structural makeup and biochemical expressions. Additionally, we use the latest technology to test your blood markers, biome, and genetics, to create a health plan tailored just for you. We use a genome to phenome approach to your care. 

More about The Institute for Human Optimization

The Institute for Human Optimization is committed to helping you create a personalized plan for living your longest, healthiest life possible. My team and I leverage the most cutting-edge advances in genetic testing, nutritional analysis, and functional medicine to get to the root biological imbalances that cause aging.

The Institute for Human Optimization was created to pursue a highly personalized approach to longevity medicine to help enhance healthspan. Where lifespan is the actual number of years we’re alive, healthspan is how many of those years are spent in health and wellness.

We believe that a long health span – not just a long lifespan – is the most important thing you can cultivate. A long health span means you don’t miss out on life as you get older. It means remaining independent and having the vitality to travel and see the world. A long healthspan means that you can be there – in full body and mind – for the people who need you the most and that every day will feel like a gift.

We know that each person is truly unique. From DNA to iris, we all possess a blueprint that is genetically inherited and environmentally influenced. By gaining a deeper appreciation for the person on a molecular level and addressing the root causes driving disease, we can help promote optimized health through our unique scientific, N of 1, approach to individualized care.

The Institute for Human Optimization provides the most comprehensive, data-driven, personalized approach to wellness. It is:

·  Predictive – We use genomics and advanced biomarker testing to risk stratification and empowerment.

·  Personalized – We use data-driven health information to curate actionable change for disease mitigation and prevention.

·  Preventive – We utilize highly individualized programs tailored to your unique genomic blueprint.

·  Participatory – We empower engagement in personal choices, which allows for improved outcomes and enhanced results.

I am so excited about the possibility to support you on this cutting-edge journey to extend your lifespan AND your healthspan. Click here to schedule Your Longevity Equation Epigenetic Consult! Can’t wait to meet you!

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