1. The document discusses recent discoveries about genetic variations between human genomes and structural variants that can disrupt genes.
2. It describes how identifying these exact genetic sequences of variations can help researchers narrow their searches for disease-causing mutations and develop new treatment possibilities.
3. The continued investigation of protein coding in genes is important for developing new and effective medications, as well as methods for disease prevention and health promotion.
Richard Frye, MD, PhD, FAAP, FAAN, CPI, will discuss:
*The enteric (gut) microbiome has an important influence on health and disease states in humans.
* The enteric microbiome influences the human host using chemical mediators, some of which can directly affect mitochondrial function
* Short chain fatty acids produced by gut bacteria not only modulate mitochondrial function and cellular regulatory pathways, but can also be used as mitochondrial fuels.
Approaches of biotechnology in medicalVipin Shukla
Medical Biotechnology is defined as the branch of science that delas with the study of use of living cells in Research and pharmaceuticals and diagnostic products that help to treat and prevent human diseases.
It´s a workshop about medical genetics where you would find two news that are related to medicine, biology and genetics, there are some opinions from a medicine student about them to explain how important was each research
Richard Frye, MD, PhD, FAAP, FAAN, CPI, will discuss:
*The enteric (gut) microbiome has an important influence on health and disease states in humans.
* The enteric microbiome influences the human host using chemical mediators, some of which can directly affect mitochondrial function
* Short chain fatty acids produced by gut bacteria not only modulate mitochondrial function and cellular regulatory pathways, but can also be used as mitochondrial fuels.
Approaches of biotechnology in medicalVipin Shukla
Medical Biotechnology is defined as the branch of science that delas with the study of use of living cells in Research and pharmaceuticals and diagnostic products that help to treat and prevent human diseases.
It´s a workshop about medical genetics where you would find two news that are related to medicine, biology and genetics, there are some opinions from a medicine student about them to explain how important was each research
CMI senior research Nefissa Naguib tells the story of the revolution at Tahrir Square in Egypt. She was present during the uprising that ended Hosni Mobarak's regime.
These slide accompany the video at http://blip.tv/file/4979183
GENOMICS 5
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Application of Genomics in Medicine
1. What is genomics?
Genomics is the study of genes of an organism, their compositions and the interaction amongst themselves and their environment.
2. What is the application of genomics in medicine?
This is the use of genetic material from a patient for the diagnosis of a disease or to decide which therapy is most suitable. Mostly used in oncology and detection of rare infectious diseases.
3.
4. How The application of genomics in medicine would benefit the world?
Improve the screening for cancers to ensure early diagnosis. If most of the cancers can be able to be detected early enough, they can be treated. Early detection can be aided by the use of genomics.
Genomics can help diagnose some genetically linked diseases. Some diseases are passed through genes. Understanding these diseases and defects can help tame them or treat them, and look for ways to avoid their occurrence in future generations.
Through genomics, drugs can be developed against various diseases. For instance, genomics on various disease causative agents can help a lot in identifying the most suitable drug against them.
Genomics can aide the storage of bioinformatics data, which is very essential. This data can be used even in premarital counseling where the couple can be advised on whether the combination of their genes could result in any genetic conditions to their expected babies. This can help reduce the cases of genetic disorders.
· of genomics in medicine
· Oral plant vaccines; these use DNA to create surface antigens when consumed. They show potential in the immunization against Hepatitis B. The research is still underway.
· Heterologous prime-boost vaccine for malaria; Ankara virus has been used to further develop two vaccines with DNA from P. falciparum. This has shown the prospects of reducing infection rates by 80%. This is expected to e used in future.
· Anti-malarial drugs; fosmidomycin is being tested for its effect on a component involved in the life cycle of the P. falciparum parasite, which could help in the treatment of malaria.
· Screening for thalassemias; PCR has been used to observe the mutations that lead to formation of hemoglobin. This has aided in genetic counseling which has seen a significant reduction in the cases of thalassemias.
· Precision medicine; this allows the doctors to prescribe treatment based on the patient’s genetic information. This is presently being used in the medical field.
· Pharmacogenomics; this involves testing the possible outcome when a patient takes a certain medicine. Through use of genomics it is possible to identify possible side effects. This is currently being applied in the medical field.
· Genome editing; this is the deleting or adding to some portions of gene sequenc ...
4. INTRODUCTION The gene is the basic unit of heredity, and is also a segment of DNA witch contains all the information necessary to synthesize a proteins. In few words the Proteins determines the body's structure and function, butt when this information is altered the people develop a diseases. All diseases have a genetic component, whether inherited or resulting from the body's response to environmental stresses like viruses or toxins. The successes of the HGP have even enabled researchers to pinpoint errors in genes that cause or contribute to disease.
5. Is considered that the human genome should be equal from person to person and should only vary in nucleic acid sequence, giving him the capacity of polymorphism, but now is has been found that this sequence can very from person to person when is making a analysis of genome-widescale.
6. Scientists identified over a thousand of structural variants that disrupt the sequence of one or more genes, those structural tend to happen in different places in the genome and through different molecular processes. The structural variants found are deletions, where genetic material is lost, and insertions, where genetic material is gained.
7. Bay knowing the exact genetic sequence of these variations, help clinical geneticists cant narrow down their searches for disease-causing mutations and new possibilities of treatment can by offer to people why any kind of disease
8. OBSERVATION Bay knowing the molecular etiology of the diseases, it will be possible to approach to the real cause of various diseases and dad way we cant start developing new molecular treatmentsthatprovide an efficient therapy for patients.
9. Proteins are the macromolecules that perform almost all activities of the cell. They are encode in the genes which are also contain in the chromosomes. Today the project Human Proteome Organization HUPO, is working to identify the proteins that the different genes give rise to in the human body.
10. Lund University in Sweden is the responsible for coordinating the mapping of all the proteins of chromosome 19, because they are interested in to identified proteins associated with prostate cancer the are controlled by chromosome 19. There research is also conducted on the possibility of detecting the presence of prostate cancer, brain or lung cancer, diabetes or cardiovascular disease using developments in microchip technology.
11. Knowing the abnormally levels of a certain protein in the bodies of the patients it will be possible to see how this target protein is associated with the development of diseases and search for a effective method to stopped. This kind of search cant live to the designingnew drugs and methods that stop the proteins in question.
12. OBSERVATION The continued investigation of the proteins codification in genes is necessary if we want to have a better understanding on the human body, that way the developing off new and effective medications to patients will be 100%. Other benefit is the real knowledge of protein codification in genes we ken star developing methods of promotional and prevention treatment for the patients.
13. Medical Utility Bay knowing the pinpoint errors in genes we cant develop new ways to treat, cure, or even prevent the thousands of diseases that afflict humankind.
14. Medical Utility Knowing the genetic variants it will be possible to determinate if the genome mutates inherited or ass the result from the body's response to environmental stresses like viruses or toxins, dad way we could prevent a large number of diseases bay promoting god help habits or reducing health exposure.
15. Medical Utility Drug design is being revolutionized as researchers create new classes of medicines based on a reasoned approach to the use of information on gene sequence and protein structure function rather than the traditional trial-and-error method.
16. Bibliography Genetic Sequence of Large-Scale Differences Between Human Genomes ScienceDaily (Feb. 2, 2011). Mapping Proteins on Chromosome 19 ScienceDaily (Feb. 3, 2011). Martínez Sanchez, LM. Biología Molecular. 6 ed. Medellín: UPB. Fac de Medicina 2011. 292p.