4th World Congress on Rare Diseases and Orphan Drugs June 11-12, 2018 Dublin, Ireland

Biography:

Abstract:

Biography:

Samuel Ayoola Abati working as a researcher in lagos University, and has published many articles and publications and also gained experience and worked as a faculty of Infectious Diseases in Nigeria

Abstract:

Biography:

Abstract:

Biography:

Abstract:

Biography:

Shahira ElShafei working as a head of Department of Clinical and Chemical Pathology, Fayoum University from 2016 and severed as a vice-Dean of Faculty of Medicine, Fayoum University Research and Postgraduate Study, Community Service and Environmental Development, 2007-2015.she is the Director of Third Country Training Program, Fayoum University and also review many articles in British Medical Journal Clinical Evidence From 2006 and in African Journal of Microbiology Research. She also received best paper award, initial steps for internationalization of medical education in Egypt, international business and education conference, Las Vegas, 2014

Abstract:

Hereditary pyropoikilocytosis (HPP) is a severe, rare, heriditery (autosomal recessive) hemolytic anemia, characterized by morphological findings of peripheral blood film in the form of spherocytosis, aniso-poikilocytosis, red cell fragments and a moderate degree of elliptocytosis) and decreased thermal threshold for heat-induced red cell hemolysis . Considerable evidence indicates abnormal assembly of red cell membrane proteins that result from one or more inherited defects of red cell membrane protein of the red cell skeleton is abnormal in such patients as a result of one or more inherited defects in the spectrin molecule.

We report and a document a case of pyropoikilocytosis with family study that suggest hereditary elliptocytosis in the father and ovalocytosis in the mother. We present the morphological findings and thermal studies of the patient and family members.

Biography:

Yadav Shyamjeet Maniram, holds masters degree in Life Sciences and currently a Research Scholar at the Centre for Studies in Science Policy, Jawaharlal Nehru University (JNU) New Delhi, India. He is a recipient of Indian Council of Medical Research (ICMR) Fellowship.  He is working on R&D and Innovation Policies for Rare Diseases in India

Abstract:

Despite reports of more than seventy million population of India affected by rare diseases, it rarely figured on the agenda of the Indian scientist and policy makers. Hitherto ignored, a fresh initiative is being attempted to establish first national registry for rare disease. Though there are registries for rare disease, established by the clinicians and patient advocacy groups, they are isolated, scattered and lacks information sharing mechanism. It is first time that there is an effort from the government of India to make an initiative on the rare disease registries, which would be more formal and systemic in nature. Since there is lack of epidemiological evidence for the rare disease in India, it is interesting to note how rare disease policy is being attempted in the vacuum of evidence required for the policy process. Objective of this study is to analyse rare disease registry creation and implementation from the parameters of evolutionary policy perspective in the absence of evidence for the policy process. This study will be exploratory and qualitative in nature, primarily based on the interviews of stakeholders involved in the rare disease registry creation and implementation. Some secondary data will include various documents related to rare disease registry. Expected outcome of this study would be on the role of stakeholders in the generation of evidence for the rare disease registry creation and implementation. This study will also try to capture negotiations and deliberations on the ethical issues in terms of data collection, preservation and protection.

Biography:

Maris C. Dalagan has completed her medical degree in the University of the East Ramon Magsaysay Memorial Medical Center, Philippines. She is a third year Pediatrics Resident at the Asian Hospital and Medical Center Philippines

Abstract:

Congenital central nervous system tumors are a unique group of neoplasms, not only due to the onset time, but also due to the histopathology, anatomic location and biologic behavior. Treatment involves a combination of gross total resection of the tumor, chemotherapy, and radiotherapy, but ultimately is incurable. Congenital Glioblastoma multiforme is one of the rare highly aggressive brain tumors and there have been evidence that this may have a better prognosis with improved survival compared to GBM in older children. Patients usually presents with large tumors with associated hemorrhage due to its high vascularity and hydrocephalus due to ventricular obstruction. Here we have a case of a 1 month old female who presented with an increasing size of the head. Cranial MRI and MRA showed a large right cerebral parenchymal mass. Right hemicrainectomy and debulking of 60% of the mass was done. Histopathology reports confirmed a stage 4 glioblastoma multiforme. Since then, patient has been in remission, with regular oral chemotherapy and physical therapy. Although with prominent developmental delay,  patient has  been noted to have good prognosis with multimodal therapy. There have been a reported case of a congenital GBM with spontaneous resolution and remained in remission with survival rates of up to 5 years. However, quality of life is still affected since most patients develop severe developmental delay and seizures This case suggested congenital GBM may be a separate biological entity much like neuroblastomas in infants, and therefore associated with better outcomes and even spontaneous resolution.