Bioinformatics involves using computers to analyze molecular data. When a new gene is discovered, researchers can take preliminary steps by locating information in the National Center for Biotechnology Information (NCBI) database. The NCBI database offers this information as well as powerful tools that assist in researching genomic markers such as BLAST. By aligning a sequence, the user can determine matches that result in different kinds of mutations or if there are similar genes throughout the human genome.
Searching for Complement Factor H (CFH) within NCBI pulls lots of information about the gene, protein, and studies that have been performed on the segment of DNA. The CFH is also known as many names like HF1, Factor H, and CFHL3. The gene is located on chromosome 1 at position 32 (1q32), beginning at base pair 196,651,878 and ending at 196,747,504 with slight variation to these numbers going between sources. The length of the gene is 95,626 base pairs containing 22 exons with 6 different splicing variations.
Abnormal or nonfunctional CFH proteins are said to have a roles in multiple pathways related to increased risk of microbial infections and autoimmune disorders
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If a patient entered a physician's office with symptoms of a problem in the kidneys, lab tests could determine the properties in the urine to confirm a diagnosis. However, a genetic screen would allow the physician to see that the patient carries a mutation, in this case, a non-functional CFH protein. From a clinical setting, the physician would be able to bring this case to have a targeted therapy treatment and dosage designed specifically for the patient that take into account factors like metabolic rate. This method of companion diagnostics would be more cost effective and timely compared to the previous trial and error
It helps medics to find a direct genetic cause of the patient’s condition and target it with pharmaceutical or other therapies. The technology is used for the identification of DNA sequences that increase risks of current diseases and disorders; with this information carriers can start to make efforts to prevent them before the development of the problem. The video mentioned 200 actionable genes, structures that have direct links with a specific condition. Knowing about their presence, people have a chance to bring in preventive measures like taking anticoagulants in the case of identification of a thrombogenic gene. The technology led to the significant improvement of diagnostics and personalized treatments. It helped to find a rare, life-threatening mutation in case of Beery twins and assign a drug to a girl (Alexis) that returned her to a normal life. In the case of cancer genome sequencing led to the development of genetic drags, which target essential tumor genes and make malign structures to shrink. The video mentioned a product that works with the BRАF protein that induces cells to uncontrolled division; the drug led to the remission in the patient with metastasizing melanoma. Such treatment was effective in the case of cystic fibrosis. In the case of the breast cancer the technology helps to evaluate the aggressiveness of the condition and make a personalized decision about chemotherapy. The video also mentioned the pre-implantation genetic diagnosis – an early-staged technology that prevents the development of inherited disorders in
The follwong are the major kidneys tests that are performed on the patient. The first one is the glomerular filtration rate, which is performed to deduce the number of functioning nephrons, which aid in ascertaining the magnitude of kidney impairment in the individual. According to the National Kidney Foundation (2016), the glomerular filtration rate is estimated by measuring the creatinine level in the blood stream and using the results to compute the estimated GFR level. Collecting of urine samples in a 24 hour period and measuring the creatinine concentration also aid s in kidney function
Cystic Fibrosis (CF) Pathophysiology: Cystic fibrosis is a genetic disease of the secretory glands that affects the respiratory and digestive system. It mainly affects the lungs, pancreas, liver, intestines, sinuses, and reproductive organs. Cystic fibrosis affects the cells that produce sweat, mucus, and digestive fluids. Mucus becomes thick and sticky, causing build-up in the lungs and blocking airways, making it easier for bacteria to develop. This prompts repeated lung infections and can cause severe lung damage after some time.
The chemistry test shows the levels of electrolytes found in the blood: sodium, potassium, chloride, phosphorus, magnesium and calcium. Imbalances in these electrolytes can cause complications, which especially in the case of potassium, can be deadly. Also shown by the chemistry test, blood urea nitrogen and creatinine levels can show how well the patient’s kidneys are functioning in filtering waste from the blood. Trauma and blood loss can affect how the kidney’s function not only in filtering waste, but also in acid-base balance, and balancing electrolyte levels. Another marker of kidney function is the glomerular filtration rate, which measures the rate filtrate is created by the glomerulus of the kidney (Winkelman, 2016). This is controlled by the kidneys themselves, meaning changes in the function of the kidneys can lead to an altered filtration rate (Winkelman, 2016). Lactic acid is measured by the chemistry test also, and an increase in lactic acid can signify acidosis caused by the lactic acid being formed by cells that do not have adequate oxygen to process glucose for energy (Workman, 2016). This decrease in available oxygen could be caused by damage to or impairment of the lungs. Carbon-dioxide, which is also measured by the chemistry test, can show
The ENCODE Project Consortium. "An integrated encyclopedia of DNA elements in the human genome." Nature 489.11247 (2012): 57-74.
Those who have relatives diagnosed with Cystic Fibrosis are at an automatic increased risk to have the disease. For example, in order for a child to have cystic fibrosis, their parents must be carriers of the CF gene. “One CF gene fr...
Proteogenomics is a kind of science field that includes proteomics and genomics. Proteomic consists of protein sequence information and genomic consists of genome sequence information. It is used to annotate whole genome and protein coding genes. Proteomic data provides genome analysis by showing genome annotation and using of peptides that is gained from expressed proteins and it can be used to correct coding regions.Identities of protein coding regions in terms of function and sequence is more important than nucleotide sequences because protein coding genes have more function in a cell than other nucleotide sequences. Genome annotation process includes all experimental and computational stages.These stages can be identification of a gene ,function and structure of a gene and coding region locations.To carry out these processes, ab initio gene prediction methods can be used to predict exon and splice sites. Annotation of protein coding genes is very time consuming process ,therefore gene prediction methods are used for genome annotations. Some web site programs provides these genome annotations such as NCBI and Ensembl. These tools shows sequenced genomes and gives more accurate gene annotations. However, these tools may not explain the presence of a protein. Main idea of proteogenomic methods is to identify peptides in samples by using these tools and also with the help of mass spectrometry.Mass spectrometry searches translation of genome sequences rather than protein database searching. This method also annotate protein protein interactions.MS/MS data searching against translation of genome can determine and identify peptide sequences.Thus genome data can be understood by using genomic and transcriptomic information with this proteogenomic methods and tools. Many of proteomic information can be achieved by gene prediction algorithms, cDNA sequences and comparative genomics. Large proteomic datasets can be gained by peptide mass spectrophotometry for proteogenomics because it uses proteomic data to annotate genome. If there is genome sequence data for an organism or closely related genomes are present,proteogenomic tools can be used. Gained proteogenomic data provides comparing of these data between many related species and shows homology relationships among many species proteins to make annotations with high accuracy.From these studies, proteogenomic data demonstrates frame shifts regions, gene start sites and exon and intron boundaries , alternative splicing sites and its detection , proteolytic sites that is found in proteins, prediction of genes and post translational modification sites for protein.
Gene mapping is currently being used to identify genes that can put people at risk for illness and to help the development of new medicines. Scientists hope to use gene mapping to lead to advancement in medicines, the treatment to disease, and its aid in disease prevention. Genetic mapping was the initial step in the Human Genome Project (human genome project). The Human Genome Project identified thousands of DNA sequences and located important standards they called landmarks. Scientist use these landmarks to tell them where each fragment of DNA came from. These maps would be used to locate sick genes, diseases, or abnormal genes (genome.gov).
This book is about the amazing task of mapping and showing all the sequences of the thousands and thousands of genes in the human body. The book is split up into nine chapters each of which covers a different aspect of this incredible project. The book tells all about almost every aspect of the project. It tells all about the project and what the point is, what has been accomplished so far, and when they expect it to be finished. According to the introduction the project is actually expected to be finished sometime this year.
23andMe, a web-based service that helps customer read and understand their DNA, is an extremely determined firm in the genomic industry with its mission, “To help people access, understand and benefit from the human genome.” (Our mission). The culture of 23andMe was built on its six fundamental values and beliefs. First, “Think big” in terms of utilizing genetic data to modernize health, wellness, and scientific study. Second, “We love DNA” as study of DNA uncovers the secret behind the remarkable human diversity globally.
Genomic sequencing is the process of determining the precise order of nucleotides within a DNA molecule. It includes any method or technology that is used to determine the order of the four DNA bases – thiamine, adenine, guanine, and cytosine– in the strand of DNA (NHGRI, 2011). In each organism, these bases are arranged in a unique and specific sequence, and it is this sequence that is the genetic code of the organism. Genomic sequencing has had an impact on nearly every field of biological research including human genetics and genomics, plants and agriculture, microbes, medicine, viruses and infectious diseases, environmental genetics and evolutionary biology. By first examining the development of gene sequencing technology we will be able to view its role in evolutionary biology, its contribution to phylogenetics, and how it has changed our understanding of the biological tree of life.
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease. This type is passed from parent to child by an autosomal dominant type of inheritance. This means that only one copy of the abnormal gene is needed to cause the disease. Therefore, if one p...
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...
Cheminformatics term was coined for the first time by F.K. Brown and it's defined as "the field of chemistry that integrates chemical data with analytic and molecular design tools finding the 'best- fitting' compounds to address particular targets". It can be called also "chemoinformatics", "chemioinformatics" or "chemical informatics". In silico techniques are used in cheminformatics for a wide range of applications, such as in rotational drug design or in drug diversity, using the structure for predication of the activity and in virtual screening. This was first applied in the making of the period table
Chronic Kidney Disease. Mayo Foundation for Medical Education and Research, 2014. Web. 20 May 2014.