World Congress on Rare Diseases December 05-07, 2018 Dubai, UAE

Biography:

David Rose is is working for Rare Revolution Magazine, based in the UK. He is also an Ambassador for Great Ormond Street Children’s Hospital. He is passionate about the rare disease community.

Abstract:

David’s presentation will cover two main areas: Firstly, the science behind what Occipital Horn Syndrome is, covering prevalence and inheritance. Secondly, David will cover how his poor health has affected his work life, education, relationships with friends and family and his aims for the future. David will speak openly about the condition and the uncertainties that come with it, especially in the stage of his life now. David will also speak about how being born with this ultra-rare condition and always being in and out of hospital has made him the man he is today and how he appreciates the life he has – despite always being different to most of his peers.

Biography:

Abstract:

Pediatric patients with a genetic disease present a significant challenge for the surgeons, anesthetists and nurses because of the significant comorbidities. Many are preterm babies with congenital heart disease and compromised cardiovascular system. They may have pulmonary hypoplasia, reactive airway disease, chronic aspiration, recurrent pneumonia, chronic lung disease and need for long-term mechanical ventilation. Neurologically; a significant proportion of patients have seizure disorder. Hypotonia is a common finding with delayed development and intellectual abnormalities. Some patients may have congenital hydrocephalus and they need insertion of VP-Shunt early in their life. Metabolic and electrolytes abnormalities are common especially in patients with mitochondrial diseases, renal dysfunction and hepatic impairment. Many patients have anemia, poor nutritional status, global developmental delay and low weight for their age. All may increase the perioperative morbidities and mortalities. As the patient may has limb contractures, spinal and skeletal deformities, care should be taken during positioning and pressure points should be protected. Abnormal response to the medications and anesthetic drugs is a common challenge. Careful selection of the drugs and precise calculation of the doses are paramount. Regional anesthetic techniques are usually recommended to reduce the doses of general anesthetic medications and for easier management of postoperative pain. However the presence of a neurological disorder may preclude the use of regional techniques. There is a greater chance for perioperative hypothermia, so all measures should be taken to minimize heat loss and to avoid hypothermia and its adverse effects. Postoperatively; observation in high dependency unit may be needed for prolonged complicated procedures. Careful pain management is important as the child may suffer in silence. Control of postoperative nausea and vomiting will prevent aspiration and ensure a comfortable child.

Biography:

Samer Ellahham has served as Chief Quality Officer for SKMC since 2009. In his role, he has led the development of a quality and safety program that has been highly successful and visible and has been recognized internationally by a number of awards. As Chief Quality Officer and Global Healthcare Leader, he had a focus on ensuring that that implementation of these best practices leads to breakthrough improvements in clinical quality, patient safety, patient experience and risk management. He is a board-certified Internist, Cardiologist and Vascular Medicine Senior Consultant and continues to care for patients. He has received his undergraduate degree in Biology and his MD from the American University of Beirut, Beirut, Lebanon.

Abstract:

Lymphedema is a complex chronic debilitating condition resulting from inadequate lymph flow leading to significant physical and psychological morbidity. It is a chronic condition that occurs due to insufficient lymph flow leading to limbs or genitals swelling. Noninvasive diagnostic tools are helpful in confirming the diagnosis. Treatment with decongestive lymphatic therapy provides improvement in patient symptoms and volume reduction. Lymphedema is a chronic condition that occurs due to insufficient lymph flow leading to limbs or genitals swelling. The bedside diagnosis of lymphedema requires high level of suspicion and identification of specific findings on physical examination. It is important to properly diagnose LE to understand the extent and severity of extra fluid to tailor treatment accordingly. There are several diagnostic tools available and each has a specific method of implementation. LE is classified in general into primary or secondary. The treatment of lymphedema varies from complete decongestive therapy, surgery pneumatic compression to complementary and alternative medicine. Recent studies of lymphedema diagnosis and therapy are promising.

Biography:

Abstract:

Background: Assessment of fibrosis in chronic hepatitis has always been considered of utmost relevance for patient care in clinical hepatology. Over the last decade, several non-invasive methods were proposed for diagnosis of liver fibrosis, including the elastometric measurement of hepatic stiffness, group of clinical and biochemical parameters and combinations of both methods. It has been suggested that elastography and serum markers are useful techniques for diagnosing severe fibrosis and cirrhosis and for excluding significant fibrosis in hepatitis C virus patients. In addition, hepatic stiffness may also help to prognosticate treatment response to antiviral therapy.

Aim: To evaluate changes of transient elastography values as well as serum fibronectin and AST to Platelet Ratio Index in patients (APRI) treated with Sofosbuvir-based treatment regimen.

Methods: This is a follow-up study including 100 chronic HCV Egyptian patients treated with Sofosbuvir-based treatment regimen. Transient elastography values were recorded as well as serum fibronectin and APRI were calculated at baseline and SVR12.

Results: There was a significant improvement of platelets counts, ALT and AST levels, which in turn cause significant improvement in APRI scores at SVR12. Liver stiffness measurements were significantly lower at SVR12 (15.40±8.96 vs. 8.82±4.74 kPa, P=0.000). There was significant decline in serum fibronectin from baseline to SVR 12 (524.14±237.61 vs. 287.48±137.67, P=0.000).

Biography:

Abstract:

Sickle Cell Disease (SCD) is the most common monogenic disorder. SCD is an increasing global health problem and even accepted as public health issue in some regions. The prevalence of the disease is high in sub-Saharan Africa, the Mediterranean basin, the Middle East and India. Recurrent and unpredictable episodes of vaso-occlusion are the hallmark of sickle cell disease. Vaso-occlusion typically causes acute complications, including ischemic damage to tissues, resulting in severe pain or organ failure. Symptomatic management and prevention of these events is currently the mainstay of treatment. Discoveries over the past two decades have highlighted the important contributions of various participants in the occlusion cascade and there are new progresses in vaso-occlusion management. Cardiac amyloidosis is increasingly recognized due to enhanced clinical awareness and better diagnostic imaging like echocardiography, cardiac MRI and scintigraphy. Transthyretin cardiomyopathy is a form of transthyretin amyloidosis, a rare progressive disease characterized by the abnormal deposits of a protein called amyloid in the body’s organs and tissues. Transthyretin cardiomyopathy primarily affects the heart and is defined by restrictive cardiomyopathy and progressive heart failure. The prevalence of transthyretin cardiomyopathy is presently unknown, but it is estimated that less than 1% of people with the disease are diagnosed. The average life expectancy for people with transthyretin cardiomyopathy is 3 to 5 years from diagnosis. CA is becoming of heightened interest to the cardiology community given more effective treatment strategies. The commonest severe inherited bleeding disorder worldwide is hemophilia A, followed by hemophilia B. These are X-linked recessive disorders that result from mutations in the genes for blood clotting factor VIII (FVIII) in hemophilia A or factor IX (FIX) in hemophilia B. There is severe bleeding tendency with frequent spontaneous musculoskeletal and soft tissue bleedings. The life expectancy of a patient with severe hemophilia is about 10 years in the absence of replacement therapy. Since 1960s several progresses have been achieved in replacement therapies. Even there are widening therapeutic choices currently, gene therapy offers a strikingly attractive potential by means of the endogenous production of FVIII or FIX. The hemophilia patients were recognized as good candidates for gene therapy because all their clinical manifestations are due to lack of a single protein. Gene therapy provides hope for patients with hemophilia.

Biography:

Abstract:

Workshop will review how to create a patient registry, outlining major elements. Then participants will work together and with presenter to identify specific needs (based on resources, objectives) and review options and recommendations. In the age of “big data” needs, it is becoming apparent that patient groups, foundations, non-profits, etc. can provide significant content to the research field by having access to patients that pharma and academia may not. This is especially true within the rare disease field where patient access and data availability are common barriers to advancing research. Of the roughly 7000 rare diseases identified by NIH, best estimates are that fewer than 20% of rare diseases have patient registries. Most of these are operated by patients' organizations or academic researchers, states The Office of Rare Diseases Research (ORDR), a component NCATS, NIH. For many groups building a registry is a major undertaking. While smaller patient groups, foundations, non-profits often provide patient education and support, many want to add resources to accelerate research in their specific disease. One form of research to provide is a patient registry that gathers and shares data. Many of these groups need information and guidance on how their particular group could launch a registry.

The proposed workshop will outline:

1)Types of registries

2)Identify which type is best

3)IRB process

4)HIPPA and privacy Issues

5)Resources and partners/venders needed

6)Designing the registry (functionality and appearance)

7)Development process

8)Involving the scientific community

9)Technology to host a registry

10)User-ability

11)Sponsorships/Funding

12)Educating the Patients, Physicians, and other stakeholders

13)Launching the Registry

14)Patient Engagement and Marketing

15)Tracking and communicating with participants

16)Building data-sharing agreements

17)Disseminating to scientific community

Biography:

Abstract:

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.

Biography:

Abstract:

A practical hands-on approach to the use of MRI techniques is provided to promote further fetal pathological conditions and methods of prenatal MRI diagnosis through the available literature revision. Apart from the findings and artifacts and numerous high-quality illustrations, the implications of fetal MRI based on medico-legal and ethical viewpoints has significantly considered. MRI of fetus will be done in the second and third trimester of pregnancy since fetus in the first trimester and intravenous contrast study is not applicable for the fetal MRI. Fetal age (Gestational Age: GA) is an important factor in the depiction of fetal anatomy. Gestational age is estimated on the basis of the time of the last menstrual period, placenta previa, placenta accreta, placenta hemorrhage or hematoma. Oligoamnios or hydroamnios are detected in standard study of fetal MRI as well as the detection of congenital deformity and delay of growth (IUGR ) which named equele to disease is the main and unique approach through the surveillance: CNS (brain and spine), abdominal and pelvic, musculoskeletal, cardiovascular. Sequences are based on (Fiesta, SPARE -SS-TSE T2, FSE T2, DWI and T1 FLAIR). It is advised for the metabolic disorder, MR spectroscopy is indicated as brain study in MRI in the following relevant cases: Hydrocephalus-Agenesis of corpus callosum, atrophy, hypoxemia, cyst, tumor. Chiari malformation-Dandy walker cyst, Leukoencephalopathy, tumor (Meduloblastoma, papilloma, glioma, ependymoma), colloid cyst, germinoma, Dermoid, epidermoid, lissencephaly, schizencephaly and holoprosencephaly. For the functional MRI or BOLD (Blood Oxygen Level Dependent), MRI was applied. Of 137 women, 100 (60%-70%) were diagnosed with rare cerebral diseases. History of congenital genetically disorders in familial marriages, presents approved finding of brain lesions in USG or sonography screening study.

Biography:

Jenn McNary was the former Director of outreach and advocacy at a Massachusetts based non-profit foundation, where she was responsible for the organization of the largest FDA advisory committee hearing in history. She has unique experience in the drug development field, an advocate engaging with the regulators and as a Consultant helping to develop programing for patients. She is currently consulting in the biotechnology space with an expertise in caregiver/patient engagement, including bringing the patient voice to drug development and solving barriers to access.

Abstract:

Patient centricity is an often used but not always executed strategy in the current drug development landscape. It is known that patients and their caregivers are key stakeholders and potentially hold the greatest expertise in their own diseases. It is the responsibility of drug makers to enlist the help of these individuals to help ensure a successful pathway from pre-clinical development to the global market. During this session I will use my 17 years of experience as a caregiver to two rare disease patients and professional work as an advocate and consultant to demystify the concept of ensuring patient centricity in the rare disease drug development space.

Objectives: Participants should expect the following to be achieved.

• Exploring timelines and methods for seeking patient input into the drug development process at every stage, including endpoint selection, clinical trials, regulatory and commercial development.
• Learning best practices for working with patient, caregivers and advocacy groups to ensure a mutually beneficial relationship.
• Identification of ways to support and encourage the patient communities in your disease space.
• Development of strategies to tackle access issues within patient communities both pre and post drug approval.

Biography:

Stef Stienstra works internationally for several medical and biotech companies as Scientific Advisory Board Member and is also an active Reserve-Officer of the Royal Dutch Navy in his rank as Commander (OF4). He has extensive practical experience in cell biology, immuno-haematology, infectious diseases, biodefense and transfusion medicine. His natural business acumen and negotiation competence helps to initiate new successful businesses, often generated from unexpected combinations of technologies.

Abstract:

Public health systems are not always prepared for outbreaks of infectious diseases. Although in the past several public health institutes, like the French ‘Institut Pasteur’ and the Dutch ‘Tropeninstituut‘, were prominent surveyors of infectious diseases, the investments in worldwide public health have decreased. Now more attention is given to curative healthcare compared to preventive healthcare. The recent Ebola Virus Disease outbreak in West Africa initiated a new wave of interest to invest in worldwide public health to prevent outbreaks of highly contagious diseases. Zoonotic diseases are threatening as the population does not have natural nor artificial (from vaccination) immune response to new diseases like in the Ebola Virus Disease outbreak in 2014. The new strain of the Ebola Virus in West Africa was slightly less lethal, compared to other Ebola Virus strains, but the threat of spreading was far bigger as it had a longer incubation time. Most public health systems are not trained well enough to mitigate highly infectious and deadly disease outbreaks. NGO’s helping to fight the outbreak are often better trained in curative treatments and have less experience with biological (bioweapon) threats for which the military are trained for. The UNMEER mission was unique in this. It was a setting in which military and civilian actors cooperate in fighting a biological threat. Protection is essential for health workers. Smart systems have to be developed to prevent further spreading of the disease, but it is not only the biosafety, which has to be considered, but also the biosecurity, as misuse of extremely dangerous strains of microorganisms cannot be excluded. Several zoonotic infectious diseases, like anthrax, smallpox and hemorrhagic fevers are listed as potential bioweapons. Therefor both biosafety and biosecurity have to be implemented in all measures to fight outbreaks of highly infectious diseases.

Biography:

Abstract:

Biography:

Debbie Hellenbrand is a patient advocate and speaker from the Netherlands. She and her two children have multiple rare diseases and that is why she took it on herself to fight for a better future for the next generation.

Abstract:

Own your gift of life! There is no simple solution for living with a rare disease, there are no simple technology’s to make life better instantly. We can only work hard and have hope for a better future. In the meantime there are things you can do as a patient, a doctor, caregiver or anybody else that wants to help or is in your life. You can listen, sometimes it is just the only thing you can do, open your heart and just listen. Be understanding, do not judge, just help and love. Living with a rare disease mostly brings an alone feeling with it, a feeling that the whole world does not care. Keep your faith and keep your strength, because you are not alone, you have lots of people living by your side, they only need to open there eyes so they can see that people with a rare disease are just like them. People with a rare disease only have received a different “lifeplan”. This lifeplan brought them on a different path, but we all want the same, we all want to be heard, so if you think about it we are not as different as you think. Think about it, we all have one thing in common; we all have a birthday, the day that our soul entered the world and gave you the gift of life. Everybody received that gift, so honor that gift, love life, no matter what. Do not let your rare disease become you, but be yourself and work with it.

Biography:

Abstract:

Biography:

Abstract:

Biography:

Abstract:

A practical hands-on approach to the use of MRI techniques is provided to promote further fetal pathological conditions and methods of prenatal MRI diagnosis through the available literature revision. Apart from the findings and artifacts and numerous high-quality illustrations, the implications of fetal MRI based on medico-legal and ethical viewpoints has significantly considered. MRI of fetus will be done in the second and third trimester of pregnancy since fetus in the first trimester and intravenous contrast study is not applicable for the fetal MRI. Fetal age (Gestational Age: GA) is an important factor in the depiction of fetal anatomy. Gestational age is estimated on the basis of the time of the last menstrual period, placenta previa, placenta accreta, placenta hemorrhage or hematoma. Oligoamnios or hydroamnios are detected in standard study of fetal MRI as well as the detection of congenital deformity and delay of growth (IUGR ) which named equele to disease is the main and unique approach through the surveillance: CNS (brain and spine), abdominal and pelvic, musculoskeletal, cardiovascular. Sequences are based on (Fiesta, SPARE -SS-TSE T2, FSE T2, DWI and T1 FLAIR). It is advised for the metabolic disorder, MR spectroscopy is indicated as brain study in MRI in the following relevant cases: Hydrocephalus-Agenesis of corpus callosum, atrophy, hypoxemia, cyst, tumor. Chiari malformation-Dandy walker cyst, Leukoencephalopathy, tumor (Meduloblastoma, papilloma, glioma, ependymoma), colloid cyst, germinoma, Dermoid, epidermoid, lissencephaly, schizencephaly and holoprosencephaly. For the functional MRI or BOLD (Blood Oxygen Level Dependent), MRI was applied. Of 137 women, 100 (60%-70%) were diagnosed with rare cerebral diseases. History of congenital genetically disorders in familial marriages, presents approved finding of brain lesions in USG or sonography screening study.

Biography:

Abstract:

Patient centricity is an often used but not always executed strategy in the current drug development landscape. It is known that patients and their caregivers are key stakeholders and potentially hold the greatest expertise in their own diseases. It is the responsibility of drug makers to enlist the help of these individuals to help ensure a successful pathway from pre-clinical development to the global market. During this session I will use my 17 years of experience as a caregiver to two rare disease patients and professional work as an advocate and consultant to demystify the concept of ensuring patient centricity in the rare disease drug development space.

Objectives: Participants should expect the following to be achieved.

• Exploring timelines and methods for seeking patient input into the drug development process at every stage, including endpoint selection, clinical trials, regulatory and commercial development.
• Learning best practices for working with patient, caregivers and advocacy groups to ensure a mutually beneficial relationship.
• Identification of ways to support and encourage the patient communities in your disease space.
• Development of strategies to tackle access issues within patient communities both pre and post drug approval.

Biography:

Stef Stienstra works internationally for several medical and biotech companies as Scientific Advisory Board Member and is also an active Reserve-Officer of the Royal Dutch Navy in his rank as Commander (OF4). He has extensive practical experience in cell biology, immuno-haematology, infectious diseases, biodefense and transfusion medicine. His natural business acumen and negotiation competence helps to initiate new successful businesses, often generated from unexpected combinations of technologies.

Abstract:

Public health systems are not always prepared for outbreaks of infectious diseases. Although in the past several public health institutes, like the French ‘Institut Pasteur’ and the Dutch ‘Tropeninstituut‘, were prominent surveyors of infectious diseases, the investments in worldwide public health have decreased. Now more attention is given to curative healthcare compared to preventive healthcare. The recent Ebola Virus Disease outbreak in West Africa initiated a new wave of interest to invest in worldwide public health to prevent outbreaks of highly contagious diseases. Zoonotic diseases are threatening as the population does not have natural nor artificial (from vaccination) immune response to new diseases like in the Ebola Virus Disease outbreak in 2014. The new strain of the Ebola Virus in West Africa was slightly less lethal, compared to other Ebola Virus strains, but the threat of spreading was far bigger as it had a longer incubation time. Most public health systems are not trained well enough to mitigate highly infectious and deadly disease outbreaks. NGO’s helping to fight the outbreak are often better trained in curative treatments and have less experience with biological (bioweapon) threats for which the military are trained for. The UNMEER mission was unique in this. It was a setting in which military and civilian actors cooperate in fighting a biological threat. Protection is essential for health workers. Smart systems have to be developed to prevent further spreading of the disease, but it is not only the biosafety, which has to be considered, but also the biosecurity, as misuse of extremely dangerous strains of microorganisms cannot be excluded. Several zoonotic infectious diseases, like anthrax, smallpox and hemorrhagic fevers are listed as potential bioweapons. Therefor both biosafety and biosecurity have to be implemented in all measures to fight outbreaks of highly infectious diseases.

Biography:

Abstract:

Congenital cataracts (CC) are an important cause of childhood blindness worldwide with an estimated frequency of 1-15/10,000 live births^1,2. CC can arise from diverse environmental influences such as intrauterine infections or genetic causes including chromosomal or monogenic factors³. Approximately 22-40% of CC are caused by single-gene mutations and more than 40 genes have been associated. Next generation sequencing (NGS) is a powerful tool for the analysis of genetically heterogeneous diseases such as CC. Recently published NGS reports have detection rates ranging from 60-80%^4,5. To date, the vast majority of CC-NGS diagnostic studies are in developed countries. The aim of this study is to establish the diagnostic rate and the mutational spectrum identified by clinical exome sequencing in a cohort of Mexican patients suffering from hereditary CC.

Eleven probands of Mexican-Mestizo descent with a family history of CC were included. NGS was performed in 10 probands and Illumina TruSight One Inherited Disease Panel in one proband. Sanger sequencing was carried out on probands to validate pathogenic variants, and co-segregation analysis was subsequently performed on available family members. In silico analysis was employed for detecting pathogenicity in missense variants.

A total of 6 pathogenic variants were detected in this cohort, detection rate of 55%. Novel variants: CRYGA p.Arg48Cys, CRYBB2 p.Gly149Asp, CRYGC p.Phe6Ser (repeated in two unrelated families), GJA8 p.Gly8_Leu11del. One previously reported variant, EPHA2, c.2826-9G>A was detected in one family. The families carrying the CRYGC variant are both from the same region in Oaxaca, Mexico, which opens the possibility of detecting a founder mutation in the future. This is the first report of NGS in CC patients in our population. Expansion of NGS-based diagnosis in clinical practice in developing countries must be encouraged, as it will improve current diagnostic rates and more rationalized follow-up of affected patients.

Biography:

Debbie Hellenbrand is a patient advocate and speaker from the Netherlands. She and her two children have multiple rare diseases and that is why she took it on herself to fight for a better future for the next generation.

Abstract:

Own your gift of life! There is no simple solution for living with a rare disease, there are no simple technology’s to make life better instantly. We can only work hard and have hope for a better future. In the meantime there are things you can do as a patient, a doctor, caregiver or anybody else that wants to help or is in your life. You can listen, sometimes it is just the only thing you can do, open your heart and just listen. Be understanding, do not judge, just help and love. Living with a rare disease mostly brings an alone feeling with it, a feeling that the whole world does not care. Keep your faith and keep your strength, because you are not alone, you have lots of people living by your side, they only need to open there eyes so they can see that people with a rare disease are just like them. People with a rare disease only have received a different “lifeplan”. This lifeplan brought them on a different path, but we all want the same, we all want to be heard, so if you think about it we are not as different as you think. Think about it, we all have one thing in common; we all have a birthday, the day that our soul entered the world and gave you the gift of life. Everybody received that gift, so honor that gift, love life, no matter what. Do not let your rare disease become you, but be yourself and work with it.

Biography:

Abstract:

Biography:

Abstract: