Medgenome Actia Webinar
Inborn Errors of Metabolism
MedGenome invites you to a two-part webinar on
Inborn Errors of Metabolism
Part 1 - Inborn Errors of Metabolism - What a Clinician needs to know!
8th May 2020, 4PM
Part 2 - Next Generation Sequencing (NGS) for diagnosis of Inborn Errors of Metabolism
12th May 2020, 4PM
Register here

Summary of the talk

The need to understand inborn errors of metabolism (IEM) has never been stronger than today.These metabolic disorders are inherited, and individually rare, but are numerous and therefore, collectively not uncommon. They have been treated as unimportant since they are rare. On the contrary,their importance lies in the fact that they can be prevented, at least from recurring in a family, and more importantly that many of the marenowtreatable,with a possibility of acure in the foreseeable future!

The easy availability of genetic testing via sequencing of genes using Sanger sequencing or Next Generation Sequencing (NGS) are now benefiting many a patient in making an accurate diagnosis. This is crucial and is of utmost importance for timely treatment and a better prognosis.

In this two-part lecture,you will be learning about some of the common metabolic disorders with following objectives:

1. Creating awareness about IEM
2. Identification of patients in daily practice, both acute and chronic presentations
3. Diagnostic approaches and algorithms,using real cases scenarios.
4. Using NGS for diagnosing and confirming IEM patients.

In the second lecture,those disorders would be discussed which are not diagnosable by routinely available tests and require specialised testing such as NGS.You will learn what kind of NGS tests to apply in each situations and the benefits and limitations of the same.This will be done using case presentations and discussion to provide a better understanding of IEM

So join us for this two part lecture on the Inborn Errors of Metabolism

Dr. Sunita Bijarnia - Mahay,
DCH, DNB (Pediatrics), Fellow in Genetic Metabolic Medicine(Sydney)
Senior Consultant & Genetic Metabolic Specialist,
Institute of Medical Genetics & Genomics,
Sir Ganga Ram Hospital, NewDelhi.
Dr. Sunita Bijarnia - Mahay, Dr. Sunita graduated from Lady Harding Medical College, New Delhi, she did her DCH from Maulana Azad Medical College, New Delhi & DNB in Pediatrics from Sir Ganga Ram Hospital, New Delhi. She went on to do a Fellowship in Genetic Metabolic Disorders from Sydney (Australia) 2008.
She has 19 years of experience and more than 75 publications in peer reviewed journals and 5 chapters invarious books on IEM.
She is the founding executive member & National Coordinator of Indian Society for Inborn Errors of Metabolism (ISIEM) and a founding executive member of Society of Fetal Medicine, India
Her current research interests in clude Organic acidurias–molecular studies in Indian children.
Genetically determined leukodystrophies, mitochondriopathies, other neurodegenerative disorders and Disorders of homocysteine metabolism.
Can't attend live? You can still REGISTER!
We will share the recording of the webinar with all registrants.
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