early diagnosis and protein identification
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EARLY DIAGNOSIS AND PROTEIN IDENTIFICATION
Juliana Giraldo GómezMedicine student
2017
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Types of genetic exams:- Evaluation of the newborn- Diagnostic tests- Carrier tests- Prenatal tests- Pre-implantation tests- Predictive and pre-symptomatic tests-Forensic evidence
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Presented Thursday, Jan. 26, in the oral plenary session at 8 a.m. PST, at the Society for Maternal-Fetal Medicine's annual meeting, The Pregnancy Meeting™, researchers with the Columbia University Medical Center in New York
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In recent years people has seen the increase of congenital abnormalities. This abnormalities have been demonstrated that have a genetic cause
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• Whole exome sequencing (WES) is a diagnostic test for women with pregnancies complicated, that showed major detection rate by congenital anomalies
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Chromosomal Microarray Analysis (CMA) is now the recommended test for evaluating fetal anomalies.
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This analysis Will help to made an earlier diagnosis of cytogenetic abnormalities so everyone can be accompanied, know the abnormality and the posible treatmen
chromosomal microarray analysis (CMA)
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The inhibition of the mutated TAR-DAN-bindig protein 3 (TDP-43) was identificated in a experiment with a mouse, they use small-molecule peptide 1 (PM1) and these reversed all symptoms but this molecule can´t be used in humans
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TDP-43 inhibition was recogniced by Eloise Hudry, PhD, of the Alzheimer's Disease Research Unit at Harvard Medical School as a viable therapeutic option for others neurologic disorers, like Alzheimer disease
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RNA(respiratory complex)
TDP-43mutant
ND 3 ND 6
complex I disassembly
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To get a quicky and easy drug that can safely reproduce the effects of PM1 for this diseases, they are stuying the orphan 700 drugs aproved by the FDA
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The identification of this protein is an important way to get a fast therapy for those uncomon diseas and to know a little bit more about brain diseas
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This is revolutionizing our time with medicines and diseases
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They hope find the drug that can reproduce the effects of the molecule, so the can reverse the all those heavy symptoms
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Genetic exams allow us to:- Find genetic disorders in the fetus- Know if a disease gene and can be transfer to their desendants- Studying embryos to detect diseases- Assess the presence of genetic diseases in adults before symptoms occur- Make earlier diagnosis - Determine the best type or dose of medication for the person
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Having the knowledge about this, helps us to provide genetic counseling and prevent dificults in pregnancy
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BibliographyCase Western Reserve University. "Common cause of both neurological diseases such as dementia and motor neuron diseases." ScienceDaily. ScienceDaily, 23 January 2017. www.sciencedaily.com/releases/2017/01/170123162320.htm
Society for Maternal-Fetal Medicine. "Use of fetal genetic sequencing increases the detection rate of genetic findings." ScienceDaily. ScienceDaily, 23 January 2017. www.sciencedaily.com/releases/2017/01/170123094738.htm
GeoSalud. (s.f.). GeoSalud. Recuperado el 10 de 02 de 2017, de http://www.geosalud.com/embarazo/prueba-genetica/tipos-prueba-genetica.html
Medlineplus. (s.f.). Medlineplus. Recuperado el 10 de 02 de 2017, de https://medlineplus.gov/spanish/genetictesting.html
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