OTHER-RARE-DISEASE-TOPICS

RARE-DISEASE

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

<h2>Summary of the Presentation:</h2>
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.

The Stigma of Rare Diseases

<h3>Summary of the Presentation:&nbsp;</h3>
In this video, Prof. Tawfeg Ben Omran speaks about how to ease the acceptance of LSDs in our society and how stigma could impact diagnosis of patients or even, impact compliance/adherence to therapy.

Short Biography of the speaker:
Dr. Tawfeg Ben Omran (Qatar)
Senior consultant and Head of Clinical and Metabolic Genetics at Hamad Medical Corporation, Qatar.
Associate Professor at Weill Cornell Medical College, Qatar &amp; New York-USA.

Multidisciplinary approaches in Rare Disease Patient management

Summary of the Presentation:&nbsp;
Interviewed by Dr. Nawal Makhseed, Ms. Amal tolba, the Founder and managing director of HOPE AMC, Dubai, UAE speaks about what the rehabilitation setup should include to succeed.

Short Biography of the speaker:
Ms. Amal Tolba (UAE)
Founder of the UAE Special needs support group.
Founder and managing director of HOPE AMC, Dubai, UAE.
A proud mom of child with special needs.

Multidisciplinary approaches in Rare Disease Patient management in KSA

Short Biography of the speaker:
Ms. Wijdan Ahmed (KSA)
Advanced Clinical Specialist and Team Manager, Medical Genetics Clinic, King Faisal Specialist Hospital and Research Centre, KSA.

Lysosomal Storage Diseases from Neurology Perspective

In this video, Dr. Dina Saleh is sharing information about lysosomal storage diseases but this time, it is from neurologist perspective.

LSDs overview

Summary of the Presentation:&nbsp;
LSDs are a diverse group of diseases result from enzyme deficiencies lead to defects in lysosomal function. There are more than 50 inherited LSDs, collective incidence as high as 1:4000. Mostly inherited as autosomal recessive, thus LSDs are more prevalent in consanguineous populations. Early diagnosis is important to start the treatment and prevent complications. In this video Dr. Tawfeg will discuss the diagnosis and management of LSD, including how to recognize the common red flag symptoms and signs of LSDs.
In this video, Prof. Tawfeg Ben Omran discusses how could we diagnose and manage the lysosomal storage disorders (LSDs)

Short Biography of the speaker:
Dr. Tawfeg Ben Omran Biography:
Dr. Ben-Omran received his speciality training in clinical &amp; metabolic genetics at the Hospital for Sick Children, University of Toronto, Canada. He has obtained both FRCPS &amp; FCCMG in Medical Genetics in 2006. Currently, he is a senior consultant and Head of Clinical and Metabolic Genetics at Hamad Medical Corporation. He is an Associate Professor at Weill Cornell Medical College, Qatar &amp; New York-USA. He is also a Distinguished Visiting Scientist at Boston Children’s Hospital-USA.
He contributes to the body of published knowledge in clinical and metabolic genetics, with over 60 published articles in peer reviewed journals, book chapters and abstracts. He is reviewer for many clinical genetics journals.
He is an active clinical researcher, collaborating on projects with local, regional &amp; international communities. He is a lead primary investigator in many high profile research projects &amp; clinical trials to evaluate the long-term effects of enzyme replacement therapy in patients with different lysosomal storage disorders. His main scientific interests include genetics of brain malformation&amp; microcephaly, white matter disorders, dysmorphology, autosomal recessive disorders. In addition, Dr. Ben-Omran is an external advisor and expert for E-HOD (European registry and network for homocystinurias and methylation defects).
He is recognized as an expert in genetic disorders of the Arab population. His national &amp; international presence is clear. In 2013, he received the "Princess Aljawhara Center Award for The Best Research in Basic Genetics" the most competitive &amp; prestigious awards. He received Research Award from MRC-HMC for Homocystinuria project and Stars of Excellence Award 2011 for both Pioneering Newborn Screening &amp; specialized care of Genetic Diseases in the Middle East. Recently, awarded the Stars of Excellence in research 2014: Cutting Edge of Research in Medical Genetics.
He has memberships in many societies including: American Society of Human Genetics, European Society of Human Genetics, Society for the Study of Inborn Errors of Metabolism, Middle East Metabolic Genetic Group, the Middle East &amp; North Africa Newborn Screening Initiative, Middle Eastern Lysosomal Storage Diseases Expert Council Advisory Board, Child Health Research Advisory Committee, International Society for Prenatal Diagnosis, Chairman of Middle East Metabolic Dieticians Group &amp; Founder Member &amp; Regional Representative of SSIEM Adult Metabolic Physicians Group.

POMPE

IOPD Challenges

Dr. Nadia AlHashmi, metabolic and clinical genetic consultant at child health department of Royal Hospital, Muscat, Oman, is sharing a real experience of the journey of one of her IOPD patients, starting with early manifestations and suffering, through different challenges of diagnosis and management, till current status and case progression, giving some key learnings for better management of IOPD and a hope for a better life for all IOPD patients.

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