Day 3 :
Keynote Forum
Leyla Soraya Camarillo Blancarte
Mexican Ministry of Health, Mexico
Keynote: The challenge of rare diseases in Mexico
Time : 09:00 - 09:45
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:
The US defines a Rare Disease (RD) as one that affects fewer than 200,000 people or less than 1:2,000 people in Europe. Individual RDs affect less than 5-7 individuals in 10,000, but collectively affect 6-8% of the global population. The incidence of RDs in Mexico varies according to the source, vr.gr. the Mexican Federation of Rare Diseases is 1: 8,000 newborns, the National Pediatric Institute of the Ministry of Health refers that is higher Ì´1: 1,500 newborns and only 3% get an early diagnosis. The Mexican Organization of Rare Diseases states that there are 6 million. The Incidence Rate (IR) of neural tube and craniofacial defects varies annually, 8.7 and 5.1, respectively in 2016 and 3.5 and 7.3 in 2017; microcephaly’s IR was 0.95 and 2.6 in 2016-2017. There are more than 640 disease registries in the Orphanet database and less than 150 RDs have a marketed drug. The Ministry of Health of Mexico has one federal registry especially for birth defects: Epidemiological Surveillance System of Neural Tube and Craniofacial Defects since 1989 and last year the under secretariat Prevention and Health Promotion announced that there would be a specific registry for RDs. There are more information systems where birth defects are eventually notified. In 2014 the EU health expenditure amounted to 9-11% of its GDP, for the OECD countries it was 6.6% and, in Mexico 2.7% for the 2006-2017 period. The Mexican Health System is comprised by public and private health institutions headed by the Ministry of Health, there are only four compulsory notifiable RDs in the newborn screening program, but every health institution can provide a wider screening according to its own policies. In average, it takes more than 5 years to diagnose a RD and more to provide treatment despite research being conducted.
Keynote Forum
Abdul Matin
Majmaah University, Saudi Arabia
Keynote: Increasing importance of brain eating bug in Pakistan; current status and future prospects
Time : 09:45 - 10:30
Biography:
Abdul Matin has completed his PhD from Birkbeck, University of London followed by a Postdoctoral Fellowship from School of Medicine, Southampton University Hospital, Southampton, United Kingdom. His research interests include the epidemiology and pathogenic mechanism of emerging parasitic diseases with special interest on role of blood-brain barrier in central nervous system infections. He is currently working as an Associate Professor at Majmaah University, Saudi Arabia. He has published >36 research articles in reputed journals and is serving as an Editorial Board Member and Reviewer for various international and national reputed journals and funding agencies.
Abstract:
Free Living Amoebae (FLA) are opportunistic protozoan pathogens and therefore play a predatory role and help to control microbial communities in the ecosystem. On the other hand the ability of pathogenic FLA (Acanthamoeba, Balamuthia and Naegleria) to produce central nervous system infections in human especially is also a growing concern worldwide. There is a single report in literature available regarding Acanthamoeba isolation from environmental sources of Khyber Pakhtunkhwa, Pakistan described by our group last year. Here, we evaluated prevalence of pathogenic FLA from environmental resources like air, soil and water across Pakistan. 121 various water, 78 soil and 30 air samples were examined. FLA was identified by morphological characteristics of their cysts on non-nutrient agar plates seeded with E. coli. Additionally, the Polymerase Chain Reaction (PCR) was performed with genus-specific primers followed by direct sequencing of the PCR product for molecular identification. Furthermore, our PCR and sequencing results confirmed different pathogenic and non-pathogenic FLA species. Overall, FLA was recovered from ~52 % of the examined samples. Acanthamoeba was found in 38 and 8 % and Naegleria in 18 and 5% of water and soil samples respectively while Balamuthia was not recovered from any medium. Interestingly Acanthamoeba was recovered on 30 ºC while two Naegleria species were successfully isolated and cultured on both 30 and 42 ºC. This is the first report demonstrating inclusive survey for pathogenic FLA from various environmental sources across Pakistan, which suggests FLA could be a potential threat to public health to which the population is exposed.
Keynote Forum
Abdul Matin
Majmaah University, Saudi Arabia
Keynote: Increasing importance of brain eating bug in Pakistan; current status and future prospects
Time : 09:15 - 10:00
Biography:
Abdul Matin has completed his PhD from Birkbeck, University of London followed by a Postdoctoral Fellowship from School of Medicine, Southampton University Hospital, Southampton, United Kingdom. His research interests include the epidemiology and pathogenic mechanism of emerging parasitic diseases with special interest on role of blood-brain barrier in central nervous system infections. He is currently working as an Associate Professor at Majmaah University, Saudi Arabia. He has published >36 research articles in reputed journals and is serving as an Editorial Board Member and Reviewer for various international and national reputed journals and funding agencies.
Abstract:
Free Living Amoebae (FLA) are opportunistic protozoan pathogens and therefore play a predatory role and help to control microbial communities in the ecosystem. On the other hand the ability of pathogenic FLA (Acanthamoeba, Balamuthia and Naegleria) to produce central nervous system infections in human especially is also a growing concern worldwide. There is a single report in literature available regarding Acanthamoeba isolation from environmental sources of Khyber Pakhtunkhwa, Pakistan described by our group last year. Here, we evaluated prevalence of pathogenic FLA from environmental resources like air, soil and water across Pakistan. 121 various water, 78 soil and 30 air samples were examined. FLA was identified by morphological characteristics of their cysts on non-nutrient agar plates seeded with E. coli. Additionally, the Polymerase Chain Reaction (PCR) was performed with genus-specific primers followed by direct sequencing of the PCR product for molecular identification. Furthermore, our PCR and sequencing results confirmed different pathogenic and non-pathogenic FLA species. Overall, FLA was recovered from ~52 % of the examined samples. Acanthamoeba was found in 38 and 8 % and Naegleria in 18 and 5% of water and soil samples respectively while Balamuthia was not recovered from any medium. Interestingly Acanthamoeba was recovered on 30 ºC while two Naegleria species were successfully isolated and cultured on both 30 and 42 ºC. This is the first report demonstrating inclusive survey for pathogenic FLA from various environmental sources across Pakistan, which suggests FLA could be a potential threat to public health to which the population is exposed.
- Rare Diseases, Challenges in Rare Diseases, Rare Diseases in Brain, Orpahn Drug, Infectious Disease, Rare Diseases in Eye, Treatment for Rare Diseases
Location: Conference Hall
Chair
Suchismita Acharya
AyuVis Research Inc, USA
Co-Chair
Abdul Matin
Majmaah University, Saudi Arabia
Session Introduction
Hamid Reza Edraki
Rare Diseases Foundation of Iran, Iran
Title: Fetal MRI in early diagnosis in rare disease of brain
Time : 11:00 - 11:30
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.
Jennifer Mcnary
Rare Diseases Advocate, USA
Title: Ensuring patient centricity in rare disease drug development
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.
Stef Stienstra
Royal Dutch Navy, Netherlands
Title: The threat of zoonotic eases and ebola virus disease specifically
Time : 12:00 - 12:30
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.
Leyla Soraya Camarillo Blancarte
Mexican Ministry of Health, Mexico
Title: Workshop 01 : Molecular Diagnosis of Congenital Cataract Using Next- Generation Sequencing
Biography:
Abstract:
Debbie Hellenbrand
Patient advocate, Netherlands
Title: Video Presentation: Listening, loving and helping each other, Love your life
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:
Hamid Reza Edraki
Rare Diseases Foundation of Iran, Iran
Title: Fetal MRI in early diagnosis in rare disease of brain
Time : 11:00 - 11:30
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.
Jennifer Mcnary
Rare Diseases Advocate,USA
Title: Ensuring patient centricity in rare disease drug development
Time : 11:30 - 12:00
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.
Stef Stienstra
Royal Dutch Navy, Netherlands
Title: The threat of zoonotic eases and ebola virus disease specifically
Time : 12:00 - 12:30
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.
Leyla Soraya Camarillo Blancarte
Mexican Ministry of Health, Mexico
Title: Workshop: Molecular diagnosis of congential cataract using next - generation sequencing
Time : 14:00 - 15:30
Biography:
Abstract:
Congenital cataracts (CC) are an important cause of childhood blindness worldwide with an estimated frequency of 1-15/10,000 live births1,2. 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.
Debbie Hellenbrand
Patient advocate, Netherlands
Title: Liver stiffness predicts relapse after direct acting antiviral therapy against chronic hepatitis C virus infection
Time : 16:00 - 16:15
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.