CLINICAL GENETICS FOR THE BUSY PEDIATRICIAN MADE EASY

doi:10.4066/0971-9032-C3-007

CLINICAL GENETICS FOR THE BUSY PEDIATRICIAN MADE EASY

GENERAL PEDIATRICS, ADOLESCENT MEDICINE AND NEONATOLOGY CONGRESS
December 12-13 ,2018 | Abu Dhabi ,UAE

Jumana Y Al Aama

King Abdulaziz University, Saudi Arabia

Keynote : Curr Pediatr Res

DOI: 10.4066/0971-9032-C3-007

Abstract:

This presentation aims to equip pediatricians with the basic skills and knowledge related to clinical genetics that will be needed in everyday practice. It will alert doctors to the red flags for when to suspect an underlying genetic disorder and what are the safe measures to take in that case. Basic clinical skills required to tackle an encounter with a suspected genetic disorder will be introduced. A brief overview of the common types of genetic disorders will be given. We will explain the underlying rationale of why we need to diagnose genetic syndromes, and how that is achieved. Practical examples from the clinic will be given throughout the presentation. With these examples, some sophisticated molecular and cytogenetic investigative tools will be introduced- including when they are or are not indicated, and what to do with the intriguing results.

Biography:

Jumana Al-Aama is a professor and consultant of medical genetics, chairman of the department of genetic medicine and director of the Princess Al-Jawhara Al Brahim Center of Excellence in research of hereditary disorders at King Abdulaziz University (KAU), Jeddah, Saudi Arabia. She is certified by the Canadian College of Medical Genetics and by the Royal College of Pediatrics and Child Health. She is also the founding specialty chief editor of (Frontiers in Genetic Disorders and Frontiers in Pediatric Genetic Disorders) based in Geneva, and an academic editor for the PLOS One journal of Science. She was visiting professor at Beijing Genomic Institute (BGI) College in China from December 2012 – 2016. She has 116 publications in international journals with 3932 citations and H-index of 26. She has won several research awards including best health sciences researcher at KAU for 2018. She has given invited talks in international conferences in several countries including France, Spain, China, Malaysia and others.

E-mail: jalama@kau.edu.sa

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