Biography:

Rebecca Stewart along with Nicola Miller founded NRG Collective Ltd. in 2016. She is also Co-Founder of the International charity Teddington Trust, an organization, founded in 2012, supporting those affected by the Ultra-Rare Disease Xeroderma Pigmentosum.

Abstract:

Passionate about appropriate and accessible resources Rebecca will talk about why bringing science and research to rare patients is not just important for patients but is essential for the whole rare disease community. Frustrated with experiences of patients being told “you wouldn’t understand” Rebecca, and co-founder Nicola, are driven to closing the information gap and promoting empowerment through knowledge. A considerable challenge that must be addressed Rebecca will discuss why it is important to collaborate with patients when it comes to knowledge sharing. All too often patients are being sought to share their data and insights with industry for the “benefit of the whole community” often without any reciprocal flow of information. Hungry for information rare disease patients are unwavering in their quest for knowledge, so how can the scientific and research community support their learning and harness their immense force and drive for improvements whether that be in care, cures or social acceptance.

Biography:

Mohsen Sojoudi was graduated in Information Technology from Ferdowsi University, Mashhad, Iran. He is a Senior IT Consultant and Manager at Rare Diseases Foundation of Iran and Parsian Medical Center. He has achieved healthcare and IT systems promotions through his self-motivated researches on the rare diseases data analysis.

Abstract:

Nowadays through continuous progression, the necessity of data analysis on the diagnosis of rare out of non-rare diseases through providing connections among worldwide statistical scientific discoveries is felt. Bioinformatics resources and database tools about the genetic disorders, useful management of sample sequences and post-transcriptional regulation could be the starting point for solving the difficulties on the identification of rare diseases. Making a right and timely diagnosis is coming to be a significant difficulty for rare diseases delayed diagnosis. Rare diseases patients’ analytic data management and its trending may pave the way of their future and lifestyle. Rare diseases trending is quite various through geographical borders and requires expertise and systematic data management. To achieve the applied software techniques, the social challenges as well as clinical research studies seems to be the most important. Later on, the internet and electronic healthcare and telemedicine systems, portal and software are quite applicable and useful. The analytic databases must be included OMICS (genomics, proteomics and metabolomics), the experimental data browsed through software designation. The access to a wide range of biological data plays the first role in bioinformatics and relevant database as the organized set of information and research studies in laboratories and revision of analytic scientific publications consisting of structured and organized entries at their both availability and easy application. This article indicates the principles for the scientific data analysis as to be findable, accessible and innovatively reusable to practically improve the diagnosis of rare diseases throughout the world specially the developing countries.

Biography:

Abstract:

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder characterized by benign tumor growth including lesions in multiple organs and is associated with considerable disease burdens for patients and caregivers. Australia, UK and US recently all conducted surveys to evaluate the burden of the disease for TSC families and the unmet needs in their countries. Based on these existing surveys, our association (ASTB) developed a web-based questionnaire to evaluate the impact of the disease on both patients and caregivers in France. The questionnaire was specifically designed to be accessible for both patients and caregivers. To be as exhaustive as possible, all the mentioned topics were questioned: Manifestation of TSC, autonomy and fate, accessibility to healthcare system and welfare, impact on education, impact on professional orientation, costs, impact on caregivers health, impact on the partners and siblings and priority for researchers. We obtained a total of 390 responders with 29% being patients, 67% being caregivers and 4% being both patients and caregivers. This number represents almost 5% of the population affected by TSC in France, making this study as one of the most representative conducted so far. For the analysis, we sub-grouped responders according to age (4 groups) and severity of the disease: Slightly affected (52%), or severely affected (48%). As a first result, independently on the severity of the disease, TAND and epilepsy were found to be the greatest burden of the disease, in perfect agreement with the results of the surveys conducted in the other countries. In addition, the fate of the patient after their passing is also an important fear for caregivers. The access to TSC healthcare experts, high healthcare costs, impact on community or working life was also identified as important burdens among many others. For the first time in France, our association was able to estimate and quantify the unmet needs and burdens of both caregivers and patients living with TSC. Some needs are specific to our country as those related to social or school systems, but according to all responder comments, TSC burdens were summarized in 4 words : Isolation, unpredictability, complexity and never ending, that can reflect TSC burdens in any country around the world.

Biography:

Youmna Ghaziri is a published blogger, philanthropist, public speaker, an agriculture engineer from the American university of Beirut, wife and a proud mom of Lynn and Lara. Youmna’s blogging journey started in 2016 after her elder daughter Lynn was diagnosed with a rare disease called Erythromelalgia. Since then, Youmna adopted the mission of spreading awareness around her daughter’s rare disease to help others get a diagnosis and hopefully find a cure someday. Her focus is on a community and digital campaign to create awareness in addition to supporting other moms and families dealing with rare diseases and how to positively overcome the daily challenges associated with them.

Abstract:

Erythromelalgia is a rare neurovascular condition that primarily affects, but not limited to the extremities by causing redness, heat and pain. It is often misdiagnosed, as there is no specific test for it. The challenge goes beyond diagnosis, as there is currently no cure for it, nor an effective treatment that suits all. The Red Hand Challenge is an awareness campaign initiated by 10-year-old Lynn Ghaziri, the only known case in the entire Arab world who suffers from erythromelalgia, in order to create awareness and advocacy. Inspired by her own flares Lynn challenged people on Instagram and Facebook to paint their hands red and post it on social media while using the hashtags #RedHandChallenge and #GirlOnFire and to nominate others to take the challenge. The family started dedicated Facebook and Instagram pages managed by Lynn’s mother. They encouraged people to take the challenge by posting photos and videos of themselves painting their hands red and using the hashtags and nominating others to do the same. Soon enough, family, friends and other Erythromelalgia patients took the challenge and posted on their social media pages and challenged others to follow suit. The family kept track of the hashtags and made sure to repost every single red hand post. The challenge was taken in more than 22 countries worldwide and is still ongoing. The RedHandChallenge reached people of different professions and backgrounds. The campaign picked up enough attention, that Lynn’s story was featured in three newspapers in the UAE. Lynn was also interviewed by two of the most listened to radio stations in Dubai, and hosted live on AlArabiya and Future TV. Lynn’s story was also featured on the UAE Rare Disease Society bringing more awareness to Erythromelalgia. Recently, Lynn was awarded “Inspiring Kid of the Year” by Time Out Kids Dubai.

Biography:

Abstract:

The Rare Special Powers (RSP) project is aimed at combining science and art like during the Renaissance. RSP is a unique rare diseases advocating strategy across social media using art. The art I use in my social media is intended as beauty, not as art therapy approach. The strategy is built around the following key concepts:

1. “Expert by experience” as a way of identifying patients and moms and, at the same time, to go behind the disease and meet the persons. This specific group of rare disease experts gain a huge amount of scientific knowledge on the disease –e.g. details and red flags- by living it every day and connecting with other families.
2. Patient-centered health care system. In translational and clinical research, patients are the main focus and since they are “expert by experience”, it is critical have them actively involved in research projects and get from them important feedbacks or inputs. The entire research process would profit from such approach as the Portuguese association for CDG syndrome with the international CDG Research Network –CDG and allies PPAIN- and worldwide CDG families prove (http://www.apcdg.com/). They are addressing the immune system complications observed in CDG patients using a specific questionnaire done by patients, families, and scientists together. Also, I am a member of the newly established COST Action MINDDS – Maximizing Impact of Research in Neurodevelopmental Disorders- network and we are going toward this direction
3. Communication. Diversify the social media platforms –Facebook, Instagram, Twitter, LinkedIn, website, Pinterest, etc.-, the format, and style used to do communication to reach as many people as possible with different backgrounds, culture, experiences, and expertise.
4. Art. Art uses a universal language and it closes the communication divergent gaps – see point 3- and helps to create a common language with no need of any translation; furthermore, our brain is naturally attracted by beauty, which has its roots on the neuroaesthetics discipline (The Aesthetic Brain, Anjan Chatterjee, Oxford ed.).
5. Leonardo da Vinci is “The” superb example of the Renaissance geniality, he perfectly combined art and science, and use art to propelled scientific discovery.

Biography:

Abstract:

As study and trial facilitation in rare disease struggle with a limited patient population from which to pull, remain high-risk and under-funded, and often produce smaller data sets with less impact than large cohorts, it becomes apparent that non-profits can address the gaps by resourcing the space with infrastructure with multi-site entities through which to run these trials. By providing such elements as core funding, scientific, administrative, budgetary and operational management, clinical studies networks can both produce studies that otherwise would not occur and they can provide industry a lower risk platform through which to run studies. This resource bridges the gap between the science of drug treatment and its practice through lessening the cost and risk to run scientifically based interventions in real world settings. In addition, larger cohort populations can be recruited resulting in more impactful, rigorous and valid studies and trials.

Biography:

Leyla Camarillo-Blancarte is a knowledgeable articulate communicator with several years of experience across healthcare and improving evaluation and training techniques in the country.

Abstract:

Best disease is an autosomal dominant retinal degeneration characterized by the presence of yellow lesions in the macula causing decreased central visual acuity at later stages. Best disease is caused by heterozygous mutations in BEST1, a gene located at chromosome 11q13. In the present study, we describe the clinical and molecular analysis of two multigenerational families with Best disease and correlate the Optical Coherence Tomography (OCT) findings in asymptomatic and symptomatic subjects carrying BEST1 mutations. We studied two Mexican families with three affected generations each were studied. Probands underwent full ophthalmologic examination including fundus examination, Fluorescent Angiography (FAG), and Electro-Oculogram (EOG). Fourier-domain 3D OCT was performed in a number of symptomatic and asymptomatic subjects from these two pedigrees. PCR amplification and automated nucleotide sequencing of the 11 exons of the BEST1 gene in genomic DNA were also performed. Eighteen members of family 1 were molecularly tested. Seven subjects, including 4 young asymptomatic patients, carried a W24C heterozygous mutation in BEST1. OCT imaging in a 6-yearold asymptomatic patient carrying this mutation did not demonstrate retinal lesions. Fifteen subjects from family 2 were molecularly tested. Four patients, including 2 asymptomatic subjects, carried a heterozygous Q293K BEST1 mutation. OCT imaging in an asymptomatic 8-year-old individual with the Q293K mutation demonstrated bilateral subfoveal lesions and unilateral serous retinal detachment. Symptomatic patients showed severe retinal lesions by OCT. Our results add to the clinical, imaging and molecular knowledge of Best disease and suggest that OCT can recognize retinal lesions in some asymptomatic carriers of BEST1 mutations as early as 8 years of age.

Biography:

Leyla Camarillo-Blancarte is a knowledgeable articulate communicator with several years of experience across healthcare and improving evaluation and training techniques in the country.

Abstract:

Best disease is an autosomal dominant retinal degeneration characterized by the presence of yellow lesions in the macula causing decreased central visual acuity at later stages. Best disease is caused by heterozygous mutations in BEST1, a gene located at chromosome 11q13. In the present study, we describe the clinical and molecular analysis of two multigenerational families with Best disease and correlate the Optical Coherence Tomography (OCT) findings in asymptomatic and symptomatic subjects carrying BEST1 mutations. We studied two Mexican families with three affected generations each were studied. Probands underwent full ophthalmologic examination including fundus examination, Fluorescent Angiography (FAG), and Electro-Oculogram (EOG). Fourier-domain 3D OCT was performed in a number of symptomatic and asymptomatic subjects from these two pedigrees. PCR amplification and automated nucleotide sequencing of the 11 exons of the BEST1 gene in genomic DNA were also performed. Eighteen members of family 1 were molecularly tested. Seven subjects, including 4 young asymptomatic patients, carried a W24C heterozygous mutation in BEST1. OCT imaging in a 6-yearold asymptomatic patient carrying this mutation did not demonstrate retinal lesions. Fifteen subjects from family 2 were molecularly tested. Four patients, including 2 asymptomatic subjects, carried a heterozygous Q293K BEST1 mutation. OCT imaging in an asymptomatic 8-year-old individual with the Q293K mutation demonstrated bilateral subfoveal lesions and unilateral serous retinal detachment. Symptomatic patients showed severe retinal lesions by OCT. Our results add to the clinical, imaging and molecular knowledge of Best disease and suggest that OCT can recognize retinal lesions in some asymptomatic carriers of BEST1 mutations as early as 8 years of age.