February 2021
MENA and GCC Rare Disease Day
Wording and links MENA and GCC Rare Disease Day spotlight edition
Full edition
Editor’s Welcome
http://bit.ly/MENA-EditorWelcome
February is a highlight of our calendar each year as the world comes together to make noise for Rare Disease Day (RDD), and this year it feels particularly poignant as our community have faced unprecedented challenges. What makes RDD so special is that it brings together all voices, individuals and families, healthcare providers, educators, scientists and industry, and it knows no geographical boundaries—a truly global affair.
The varied rare disease landscape of the MENA and GCC region: posted on social media 28 Feb
http://bit.ly/MENA-RDLandscape
The varied rare disease landscape of the MENA and GCC region: neuromuscular, metabolic and blood disorders
Within the rare disease landscape in the Middle East region there are many political, economic and cultural differences, but there are certainly also many commonalities—not least in terms of the relatively high incidence of rare disease. Individual countries have risen to the challenges of these genetic diseases in different ways and so there is tremendous potential for collaboration across the region: if treatment, expertise or knowledge is not available in a particular territory, it can often be found elsewhere. Here we draw together some of the challenges and opportunities in the rare disease space in the Middle East, drawing on the expertise of rare disease experts in neuromuscular, metabolic and blood disorders
Diagnosis and newborn screening: posted Twitter and Facebook 1 March Insta 9 March
http://bit.ly/MENA-DiagnosisNBSrceening
Diagnosis and newborn screening, Finding the perfect balance, in harmony with centuries of culture, through education, science and genetic counselling
When it comes to rare disease, the MENA region represents a complex interplay between cutting edge science and a deeply embedded cultural system with strongly held societal beliefs. No more so is this evident than when looking at newborn screening and genetic diagnostics
Open for business: posted Twitter, Facebook, Insta 3 March. LinkedIn 4 March
http://bit.ly/MENA-Openforbusiness
Open for business, Exploring the significantly untapped opportunities for industry and academia looking east for clinical trials
With a high prevalence of rare and genetic diseases, the wealth of patient data makes the MENA region a rich, but as yet mainly untapped pool of potential for clinical trials. Despite the obvious opportunities, a number of barriers have limited progress in this area, but attitudes are changing, and it very much feels like a new era is emerging
Genome population studies posted Twitter, Facebook, Insta 4 March. LinkedIn 5 March
Genome population studies, Unlocking the secrets to disease prevalence
Genome population studies are a vital component in tackling rare disease at both international and local level. By gaining greater understanding of disease prevalence and trends in the population science, healthcare provision and policy can respond accordingly
Literature and population studies – posted Twitter, Facebook, Insta 5 March. LinkedIn 7 March
Literature and epidemiology, The importance of the genetic landscape throughout Arabic speaking countries
Despite having a young and fertile population, the Middle East has one of the highest rates of genetic conditions in the world. However, thanks to the region’s flourishing research sector, more is now known about the epidemiology of rare diseases, and how to treat them more effectively
A call to action – posted on social media 28 Feb
http://bit.ly/MENA-DrivingResearch
A call to action – the families driving advocacy and research
A rare disease diagnosis can leave a family feeling shock, disbelief and fear, and left with more questions than they have answers to. A frantic internet search will often follow with families desperate for support, guidance, and a community. But what happens when there is no patient society, no support group, no community? Many people are left feeling alone in a sea of uncertainty
Next steps – bridging the skills gap – posted Twitter, Facebook, Insta 6 March. Found meme and shared, Daisy x
Next Steps – Bridging the skills gap and uniting a global family in the fight against Angelman syndrome
When Kimia Mackay was three years old, a consultation with a doctor on an unrelated matter led to an unexpected diagnosis of Angelman syndrome. Parents John and Souzie Mackay are now using international collaborations to ensure that Kimia and other People of Determination in the UAE can connect and thrive
Yes to my giving
http://bit.ly/MENA-Yestomygiving posted Twitter, Facebook, Insta 8 March Linkedin 16th March
Yes to my giving
Abdulla Alsoori knows first-hand the challenges a disability can bring, but he also recognises the potential People of Determination have. Through his association, he is encouraging others to realise this potential, live a more independent life and follow their ambitions
Lou Lou Foundation
http://bit.ly/MENA-LouLou posted Twitter, Facebook, 9 March Insta 10 March
Loulou Foundation – advancing research for CDKL5 deficiency disorder
Like many parents receiving a rare diagnosis for their child, Majid and Lynn Jafar became experts in their daughter’s condition almost overnight. While good patient advocacy for her condition existed, the Jafars’ call to action was to drive research and so the Loulou Foundation was established. We look at what they have achieved so far and how they are supporting the rare disease community as a whole
LAND for Hope
http://bit.ly/MENA-LAND posted Facebook, Twitter, 10 March Insta 11 March
LAND for Hope
Devastated by his son’s rare disease diagnosis, Muhieddine Zein felt alone in navigating the rare disease journey. Motivated by the need for support, knowledge and a community, Muhieddine set up LAND, Lebanese Association for Neuromuscular Diseases, and found that together means stronger
Living for today
http://bit.ly/MENA-Mehrabi posted Facebook, Twitter, 11 March Insta 12 March
Living for today
When Lousin Mehrabi’s son was diagnosed with a rare disease, she was told there was nothing they could do to improve his quantity of life and so she made the decision to do everything in her power to improve his quality of life. And by harnessing her love for speaking and writing she shares her story with others, shining a little light for other people going through a difficult time
ZC4H2 Research Foundation –
http://bit.ly/MENA-ZC4H2 posted Facebook, Twitter, 12 March
ZC4H2 Research Foundation – hope through science
Receiving an ultra-rare diagnosis for their daughter left John and Catherine Paul desperate for more information. Inspired by other families taking action and having a real meaningful impact on the rare disease world, they set up their own foundation to support scientific research and to seek the answers no one could give them
The UAE – leading the charge in accelerating the access to innovative therapies: posted on social media 28 Feb
http://bit.ly/MENA-AminAlAmiri
The UAE – leading the charge in accelerating the access to innovative therapies
With a high incidence rate of genetic and inherited disorders across the MENA region, it is important that there is a robust regulatory infrastructure in place to ensure that rare disease patients can benefit from innovation in the field, and that the financial mechanisms in place are optimised to ensure that these treatments and correct supportive clinical care reaches families when needed. The following insights highlight significant work being done to remove regulatory bottlenecks and open up a pathway for these treatments to reach the rare families of the Middle East
Saudi Arabia – driving progress Posted Facebook, Twitter, 1st April
http://bit.ly/MENA-DrivingProgress
Saudi Arabia—driving progress through value-based and risk-sharing agreements for medicines
In Saudi Arabia regulatory reform and control falls to the Ministry of National Guard – Health Affairs (MNGH), King Abdulaziz Medical City (KAMC), Riyadh, Saudi Arabia, and like the UAE they have a drive on ensuring their population can benefit from early access to medical innovation and that rare disease patients are not left behind in accessing such innovation
Centralised registries posted on 1st April Twitter Facebook 5th April Linkedin ..
http://bit.ly/MENA-CentralisedRegistries
Centralised registries—driving regulatory policy and care protocols
Patient registries are very much seen as a backbone to the future of rare disease diagnosis and research, and in Saudi Arabia, this is being approached in a collaborative way. Dr Ali Al Shehri explains how a centralised patient registry for neuromuscular disease is crucial
Funding infrastructure and continuity of care
Funding infrastructure and continuity of care posted on fb Twitter Linkedin n 22nd March
Dr Jehan Suleiman is a consultant paediatric neurologist who specialises in neuro-immunological diseases. She has had a varied career that has seen her work and study both in the Middle East and in Australia. Dr Suleiman has noted differences between the Middle East and Australia, not just in incidence rates for rare diseases, but in how funding structures impact and inform patient care
Patient registries
https://bit.ly/MENA-PatientRegistries
Patient registries, The missing link in rare disease research posted on fb on 17th March Twitter 16th Linkedin 16th March
Patient registries play a vital role in accelerating research into rare diseases by bringing together natural history and clinical and geographical evidence to better inform and accelerate research. Dr Ali Al Shehri and Professor Mohammed Al Jumah share their insights on the importance of registries both across the broader rare disease landscape and within specific diseases
Genpharm article – Regional collaboration posted on Twitter 2nd April
http://bit.ly/Genpharm-RegionalCollaboration
Regional collaboration is the best way forward to face the challenges of rare disease patients in the Middle East
Genpharm have an inherent ethos of collaboration, and through their mantra Commit. Connect. Cure they are committed to expediting advancement for the rare disease community across MENA
Genpharm – the spark that ignited tackling rare diseases in the MENA region posted on fb on 19th March Twitter 17th Linkedin 17th March http://bit.ly/GenpharmStory
The spark that ignited tackling rare diseases in the MENA Region
After an established career in multinational pharmaceuticals, Kamel Ghammachi and Karim Smaira asked themselves two very important questions, igniting a spark that led to their next career challenge
Genpharm article – Samer Khalil
Genpharm article – Reem Al Haddad posted on Twitter 8th April
http://bit.ly/Genpharm-AlHaddad
Rare disease perspective in the region through the eyes of a field medical advisor, by Reem Al Haddad
Gene Therapy in the MENA region
http://bit.ly/MENA-GeneTherapy
Gene therapy in the MENA region – changing the trajectory of rare disease posted on Twitter 2nd April
We are living in an exciting era of medical and scientific advancements, the likes of which would once have seemed more science fiction than fact. Many rare diseases that not so long ago could only be treated through symptom management now have hope of effective therapies, thanks to the developments in the field of gene therapy. This novel treatment has the potential to change the natural history of these diseases. In terms of medical developments, gene therapy is still in its infancy but promises significant potential due to the relative ease with which it is administered and its predicted life-altering outcomes. But all this comes with a very high price tag. And this high cost means it is not widely available for use across the MENA region. We take a look at the countries in the region already benefitting from this novel therapy for the rare disease spinal muscular atrophy, and focus on the hopes of the doctors to be able to offer this life-saving treatment to their patients too
The ever changing landscape of gene therapy posted on Twitter 18th March Linkedin Friday 19th Instagram http://bit.ly/MENA-ChangingLandscape
The ever changing landscape of gene therapy
We’re only at the tip of the iceberg in our understanding of the true potential of gene therapy for the treatment of rare diseases. Here, we speak with Alessandro Cirrincione, Vice President and General Manager of CEE/MEA on the promise of gene therapy
The UAE Rare Disease Society: posted on social media 28 Feb
UAE Rare Disease Society – support for rare
Understanding that more needed to be done to support people living with a rare disease in the UAE, a group of geneticists came together to establish the UAE Rare Disease Society. We look at the ways in which they are providing support to these individuals while ensuring the profile of rare disease is increased among the community as whole
The UAE Genetic Diseases Association
UAE Genetic Diseases Association – innovation in genetic healthcare posted on social media 28 Feb
The UAE Genetic Diseases Association is dedicated to reducing the incidence rate and impact of genetic diseases in the UAE through innovative technology. We take a look at their commitment to research, patient support and knowledge sharing and the incredible success of their thalassemia campaign
High Hopes Pediatric Therapy Center: posted on social media 28 Feb
High Hopes Pediatric Therapy Center
Born out of a personal need to provide her daughter with the specialist interdisciplinary care her rare disease dictated, Lynn Jafar founded the High Hopes Pediatric Therapy Center in Dubai. Three years on and Lynn’s dedication and passion are continuing to help countless children from the region and beyond. The centre’s commitment to excellence and expertise ensure it is setting the standard in care for special needs children and improving the lives of so many families
Al Jalila Children’s Specialty Hospital
Al Jalila Children’s Specialty Hospital—A gift to the children posted on FB TW 15th march IG
Al Jalila Children’s Specialty Hospital in Dubai is setting the standard in paediatric healthcare and leading the way in cutting-edge research. RARE Revolution had the pleasure of talking to Dr Ahmad Abou Tayoun, clinical molecular geneticist at the hospital, to find out more about this innovative new hospital serving the children of the UAE
Kuwait Medical Genetic Centre posted on TW 5th April
http://bit.ly/MENA-KuwaitGenetic
Kuwait Medical Genetic Centre – the science guiding families
Kuwait Medical Genetic Centre opened in 1979 with a clear vision of a modern Kuwait with less burden from genetic disorders, a complete coverage of genetic services and a leading research genetic centre in the Middle East.1 Dr Laila Bastaki spoke to RARE Revolution about how they are fulfilling this commitment and about the successful initiatives they have seen come to fruition
