ACID-SPHINGOMYLENASE-DEFICIENCY-NIEMANN-PICK

RARE-DISEASE

Professor Tawfeq Ben Omran video on ASMD

Awareness on ASMD disease
Professor Tawfeq Ben Omran explains the signs and most common symptoms of the disease. In addition to that, he takes us through the different specialties that can encounter ASMD patients. He also highlights the necessity of increasing awareness in order to eliminate the long diagnostic odyssey.

Professor Moeen Al Sayed video on ASMD

Awareness on ASMD disease.
Professor Moeen Al Sayed gives a detailed overview of the complications faced by the patients suffering from ASMD disease from its most severe form to its most prevalent form.

Professor Fatma Al-Jasmi video on ASMD

Awareness on ASMD disease
In this video, Professor Fatma Al – Jasmi explains the causes of the disease and the different types falling under its spectrum. She explains the difference between each ASMD form and the main characteristics and symptoms related to each type.

MUCOPOLYSACCHARIDOSIS-MPS

MPSI chase the signs video

POMPE

Pompe video

OTHER-RARE-DISEASE-TOPICS

How To Diagnose LSDs?

Learn more about early diagnosis of lysosomal storage disorders: Fabry disease, Pompe Disease, Gaucher disease, Acid Sphingomyelinase Deficiency (ASMD, also known as Niemann-Pick Type A/B), mucopolysaccharidoses (MPSs).

When shall we think of a rare disease from Neurological perspective

Many LSDs are associated with the emergence of neurological manifestations, Dr. Dina Saleh will today speak to us about the suspicion of a rare disease from neurologist perspective.&nbsp;

What is the role of Artificial Intelligence in accelerating patient's diagnosis?

Summary of the Presentation:&nbsp;
It is impossible for a physician to memorize information about thousands of rare diseases. Modern computers can easily "memorize" huge quantities of digital information. &nbsp;If the computer can also extract and use this information in a meaningful way, this has a high potential for improving diagnosis and treatment.
Short Biography of the speaker:
Prof. Fatma Al Jasmi (UAE)- Chairman
Chair of Genetics and Genomics department, Professor at College of Medicine and Health Science, UAE University.
Metabolic Consultant at Tawam hospital, Al Ain, UAE.
Founding member of UAE Rare Disease Society.

What are the new diagnostics modalities used to expedite Rare Disease patients identification?

Summary of the Presentation:&nbsp;
In this video, Prof. Zuhair Al Hassnan speaks about the new diagnostic approaches in the rare diseases field

Short Biography of the speaker:
Prof. Zuhair Al Hasnan (KSA)
Consultant genetics at the King Faisal Specialist Hospital &amp; Research Centre (KFSH&amp;RC), Riyadh.
Professor at the College of Medicine, Alfaisal University, Riyadh.
Scientist at the Department of Genetics, KFSH&amp;RC, Riyadh.

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