Brain Health
Carolyn Torkelson, Catherine Marienau in Beyond Menopause, 2023
Genomics is the study of a person’s complete set of genes, including how those genes interact with each other and with the person’s environment. Each of us has about 25,000 different genes made up of approximately 3 billion DNA units. Subtle variations in DNA are what not only make us look different from one another but also create subtle health differences. The knowledge of health risks and benefits gained by understanding your genomic profile may provide a foundation for planning a personalized approach to lifestyle modification. If you are interested in learning about your genomic profile, we encourage you to have a discussion with your functional medicine practitioner. If you decide that this approach may be beneficial, your practitioner can order genomic testing, which can provide direction on how to improve your quality of life, no matter your age.
Disease Prediction and Drug Development
Arvind Kumar Bansal, Javed Iqbal Khan, S. Kaisar Alam in Introduction to Computational Health Informatics, 2019
Genomics is related to the study of structure and function of genes and proteins. It is also about gene-to-protein translation. A gene is a sequence of four types of biomolecules called nucleotides: “A” (adenosine), “G” (guanine), “C” (cytosine) and “T” (thymine). Genes have a double-helical strand. Both strands are complementary to each other: The nucleotide “A” binds to the nucleotide “T” using two hydrogen bonds; the nucleotide “G” binds to the nucleotide “C” using three hydrogen bonds. A hydrogen bond is an electrostatic attraction between a hydrogen ion (proton) and a negatively charged ion or molecule such as hydroxyl ion (OH−). A lot of energy is required to break these bonds. In higher organisms, genes are packed into a chromosome, and many chromosomes make a genome.
Neurodevelopment and placental omics
Moshe Hod, Vincenzo Berghella, Mary E. D'Alton, Gian Carlo Di Renzo, Eduard Gratacós, Vassilios Fanos in New Technologies and Perinatal Medicine, 2019
The genome represents the total complement of genes and genetic material within a biological system (21). Genomics applies DNA technology (recombination and sequencing) to identify genome structure and function (21). Recent data indicate that changes in placental gene expression are conveyed to the developing fetus to influence formation and function of neuronal circuits (6). In response to acute maternal food deprivation, Broad and Keverne demonstrated that a program of catabolic gene expression is initiated in the placenta, whereas the hypothalamus is highly spared (22). The authors state that the fetus controls its own destiny in times of acute starvation by short-term sacrifice of the placenta to preserve brain development (22). Human and animal studies have demonstrated timing-dependent effects of maternal stress on placental size, efficiency, and gene expression (7). Recent studies using transgenic mouse lines to selectively target stress-sensitive placental genes were able to recapitulate the effects of prenatal stress on hypothalamic programming and function, providing strong evidence for the critical role of placental function for brain development (23,24).
Efficient screening strategies for severe combined immunodeficiencies in newborns
Published in Expert Review of Molecular Diagnostics, 2023
Maartje Blom, Robbert G. M. Bredius, Miriam van der Burg
In the coming years, NBS for IEI will enter the genomic era. First-tier WGS-based screening in newborns has its challenges to overcome, but more and more countries will include NGS with IEI panels in their NBS programs as a second tier test in the next years. First-tier NGS in NBS and the accompanied ethical, social, legal implications (ELSI) and costs will have to be further explored in multistakeholder studies. In the genomic era, genome-wide associations studies may have identified an exceeding number of associations between variants and phenotypes. Pathogenicity prediction programs will demonstrate improved accuracy and reference databases will be more complete. Neonatal screening might no longer rely on dried blood as DNA can be collected through less invasive methods, such as saliva or oral mucosa. In this era, non-actionable diseases might be included in the NBS program to avoid long diagnostic odysseys. In addition, NBS for early-onset diseases might have been complemented with conditions presenting in adulthood conflicting with the ‘child’s right to an open future.’ Even risk scores of potentially developing a certain disease at some stage in life might be reported early in life. While the future of NBS may be uncertain, one thing is clear: population-based screening programs have exciting times ahead thanks to the countless technological advances that lie ahead.
Physiotherapist perspectives of airway clearance techniques in bronchiectasis
Published in Physiotherapy Theory and Practice, 2023
Lisa J Franks, James R Walsh, Kathleen Hall, Julie A Adsett, Norman R Morris
Personalized therapy has been used to describe the application of genomic, proteomics and biomarkers to tailor therapy according to an individual’s characteristics, thereby ensuring they receive therapies that increase the likelihood of benefit to their health and quality of life (Horne, 2017; McIlwaine, Bradley, Elborn, and Moran, 2017). The call to personalize ACTs for bronchiectasis is hindered by the weak body of supporting evidence. As such, the personalization of ACTs remains in the domain of clinical expertise, local training, and workplace culture. This lack of clear evidence has led both the United States and the European Multicenter Bronchiectasis Audit and Research Collaboration (EMBARC) to recommend that optimizing ACTs in bronchiectasis should be a primary research priority (Aliberti et al., 2016; Spinou and Chalmers, 2019).
Single-cell genomics for resolution of conserved bacterial genes and mobile genetic elements of the human intestinal microbiota using flow cytometry
Published in Gut Microbes, 2022
Dylan Lawrence, Danielle E. Campbell, Lawrence A. Schriefer, Rachel Rodgers, Forrest C. Walker, Marissa Turkin, Lindsay Droit, Miles Parkes, Scott A. Handley, Megan T. Baldridge
Frozen E. coli stocks (GoldBio #CC-101-B) were scraped and transferred to 15 mL tubes filled with 5 mL Lysogeny broth (LB) and agitated overnight at 37°C. 1 mL of E. coli culture was transferred to a 2 mL Eppendorf tube containing homogenization beads. After homogenization DNA was extracted from these samples by phenol:chloroform extraction and cleaned with the DNeasy Blood and Tissue Kit (Qiagen 69504). DNA was prepared as outlined in the “Genomic sequencing” section below. Additional DNA was prepared for Oxford Nanopore sequencing. First, DNA was cleaned again with Qiagen Genomic-tip 100/G DNA Purification (Qiagen 10243), then it was run on a 0.8% TBE gel to determine approximate fragment size. Samples were barcoded with the Oxford Nanopore EXP-NBD104 native barcoding kit and prepared with the Oxford Nanopore SQK-LSK109 sequencing kit. Prepared DNA was then run on a MinION sequencer with MinION flowcell. Long-read sequences were processed with Guppy and hybrid assembly was performed with Unicycler.41
Related Knowledge Centers
- Bioinformatics
- DNA
- DNA Sequencing
- Epistasis
- Genome
- Heterosis
- Protein
- Pleiotropy
- DNA
- Genetics
- DNA Sequencing
- Systems Biology