MUCOPOLYSACCHARIDOSIS-MPS

RARE-DISEASE

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.

What are Lysosomal Storage disorders?

Summary of the Presentation:&nbsp;
In this video, Dr. Nawal Makhseed speaks about the lysosomal storage diseases (LSDs) and gives a brief about those genetic diseases from her Clinical experience.

Short Biography of the speaker:
Dr. Nawal Makhseed (Kuwait)
Pediatric Metabolic Consultant Jahra hospital, Kuwait.
Heads research projects on microcephaly, peroxisomal disorders and congenital disorders of glycosylations.

The role and importance of Patients Associations and Scientific societies ; UAE experience

Summary of the Presentation:&nbsp;
Dr. Fatma Bastaki speaks about the achievements and vision of the UAE rare diseases society.

Short Biography of the speaker:
Dr. Fatma Bastaki (UAE)
Consultant Pediatrician, Clinical Geneticist and Metabolist at Latifa Hospital, Dubai, UAE.
Founding and board member of UAE Rare Disease Society.

The role and importance of Patients Associations and Scientific societies ; Oman Experience

Summary of the Presentation:
In this video, Dr. Nadia speaks about the status of the Omani rare disease society with some highlights about its vision and objectives
Short Biography of the speaker:
Dr. Nadia Al Hashmi (Oman)
Consultant in inborn error of metabolic and clinical genetic.
National genetic center Department of Child Health Royal Hospital- Oman.

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