Academia

Impact of Genomic Variation on Drug Response

Impact of Genomic Variation on Drug Response

The impact of genomic variation on drug response may require investigation in clinical studies. For genomic variation that may affect the PK of a medicinal product, clinical studies should be designed in accordance with the Guideline on the use of pharmacogenetic methodologies in the pharmacokinetic evaluation of medicinal products. Genetic ... Read More
DNA Analytics for Genomic Study

DNA Analytics for Genomic Study

A variety of protocols are available for the extraction of gDNA from different sources. It is important to employ a validated method leading to an isolation of gDNA of highest quality, suitable for the nucleotide variation analysis (single or array-based qPCR or end-point PCR), and for sequencing (Sanger, NGS). It ... Read More
Sample Acquisition and Handling During Genomic Study

Sample Acquisition and Handling During Genomic Study

Identification of genetic variants demands high quality genomic DNA (gDNA). Pre-analytical variations in (i) sample collection, (ii) stability, (iii) sample labelling, (iv) transport to the site of analysis, (v) tissue/sample processing and (vi) storage, should be minimized throughout the workflow to guarantee the highest possible sample quality (see guideline ICH ... Read More
Specific Issues for HLA Alleles

Specific Issues for HLA Alleles

Idiosyncratic adverse drug reactions (ADRs) include examples of strong associations between genotypes and drug responses. These reactions: It is therefore recommended to collect DNA for later HLA typing in a drug developmental program to identify possible useful predictive HLA biomarkers. A comprehensive database listing ADRs associated with the HLA alleles ... Read More
Phenotype and Genotype Correlations

Phenotype and Genotype Correlations

Genetic variants may influence the function of a gene: The PK-phenotype can also be determined by multiple variations in different alleles, e.g. for medicinal products metabolized by multiple pathways. The detection of specific genetic variants in clinical routine helps to improve efficacy and safety of specific medicinal products in use, ... Read More
Common and Rare Genetic Variants

Common and Rare Genetic Variants

A genetic variant is defined as an allele carrying variation(s) as compared to the gene reference sequence. The term variant is preferably being used instead of the term mutation, which is reserved for rare variants (<1% frequency). Furthermore, the term polymorphism defined as variations having >1 % frequency in the ... Read More
All About Kidneys

All About Kidneys

Anatomy and Structure Location: Kidneys are located on either side of the spine, just below the ribcage, in the retroperitoneal space. Shape and Size: Each kidney is bean-shaped, typically about 10-12 cm. Components: Functions of the Kidneys Filtration: Regulation of Homeostasis: Hormone Production: Blood Pressure Regulation: Detoxification: Diagnostic Tools Blood ... Read More
Why Protein Folding Matters?

Why Protein Folding Matters?

Proteins are tiny machines that must fold into the right shape to work. Imagine folding a piece of paper into a paper airplane. If the folds are done right, you get a perfect flying airplane. One wrong fold? It doesn’t fly—it falls apart. That’s exactly how proteins behave. Why Is ... Read More
DNA Extraction Process

DNA Extraction Process

DNA extraction is more than just a lab technique; it’s a process rooted in biochemistry and molecular biology principles. 1. DNA extraction A process of isolating DNA from cells or tissues to study its structure, sequence, or function. This process involves breaking open cells, separating DNA from other cellular components, ... Read More
What Makes a Protein Functional?

What Makes a Protein Functional?

Proteins are not just strings of amino acids they are complex, highly structured, dynamic molecule that must fold correctly to function properly. But what exactly determines whether a protein is functional? Here are some factors that determine proteins functionality: Primary Structure Protein Folding Post-Translational Modifications (PTMs) Molecular Interactions Environmental factors ... Read More
Citric Acid Cycle: A Journey Into Cellular Metabolism

Citric Acid Cycle: A Journey Into Cellular Metabolism

The Citric Acid Cycle, also known as the Krebs Cycle or TCA Cycle, is foundational to understanding how our cells produce energy. This intricate pathway converts nutrients into usable energy, driving every cellular function. Let’s delve into the details of this essential cycle and its broader implications. The Central Role ... Read More