Journal of Pharmacogenomics & Pharmacoproteomics

Wolfram syndrome is genetically transmitted disease: A fact

JOINT EVENT ON 6^th European Conference on Predictive, Preventive and Personalized Medicine & Molecular Diagnostics & 2^nd World Congress on Human Genetics

September 14-15, 2017 | Edinburgh, Scotland

Ghulam Rasool Mashori

Peoples University of Medical & Health Sciences for Women, Pakistan

Scientific Tracks Abstracts: J Pharmacogenomics Pharmacoproteomics

Abstract:

Wolfram syndrome is an autosomal-recessive genetic disorder that causes childhood-onset Diabetes Mellitus and Optic Atrophy and Deafness. Wolfram Syndrome is also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness). The Wolfram Syndrome-1 (WFS1) is caused by homozygous or compound heterozygous mutation in the gene encoding Wolfranin on chromosome 4 (4p 16.1). In a study, it was noted that patients suffered occurrence of Diabetes Mellitus at median age of 6 years, followed by optic atrophy (11 years), followed by Diabetes Insipidus and sensorineural Deafness. Most patients eventually develop all complications of this progressive, neurodegenerative disorder. The pathogenesis is unknown, but the prevalence is very rare. Death occurs along with renal failure and respiratory tract dysfunction. Parents who are close relatives (consanguineous) have a higher chance to carry the same abnormal gene than unrelated people, which increases the risk to have children with a recessive genetic disorder. However, it has now been established that Wolfram Syndrome is caused by endoplasmic reticulum dysfunction. It is a rare autosomal-recessive genetic disorder caused by mutation in the WFS1 gene.

Biography :

Ghulam Rasool Mashori is working as Professor and Director at the Peoples University of Medical & Health Sciences for Women, Pakistan. He completed PhD at very early age from the Faculty of Medicine, University Kebangsaan Malaysia (1994). He has also completed many Short & Long Courses/Trainings in Management Sciences. He has great experience in the area of Quality Control & Research at NIH, Islamabad, Pakistan, as Deputy DG (Pharmacolvigilance), Drug Control Organization, Ministry of Health. He has deeply been involved in Research Work and is playing Supervisory Role at MPhil & PhD levels. He holds Managerial & Administrative experiences with very reputed organizations. He has also worked as Director National Institute of Management (NIPA). He has been efficiently involved in delivering talks on International Forums. He has published more than 23 research papers in reputed journals and has been serving as an Editorial Board Member of repute.