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

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 

In recent years people has seen the increase of congenital abnormalities. This abnormalities have been demonstrated that have a genetic cause

• Whole exome sequencing (WES) is a diagnostic test for women with pregnancies complicated, that showed major detection rate by congenital anomalies

Chromosomal Microarray Analysis (CMA) is now the recommended test for evaluating fetal anomalies.

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)

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

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

RNA(respiratory complex)

TDP-43mutant

ND 3 ND 6

complex I disassembly

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

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

This is revolutionizing our time with medicines and diseases

They hope find the drug that can reproduce the effects of the molecule, so the can reverse the all those heavy symptoms

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

Having the knowledge about this, helps us to provide genetic counseling and prevent dificults in pregnancy

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