Rare Diseases & Orphan Drugs

Romina Ortiz completed her Bachelor’s and Master’s degrees at Johns Hopkins University in Neuroscience and Molecular Microbiology and Immunology, respectively. Her thesis focused on the interplay between the microbiome and hormones in autoimmune disease. She is a co-founder of Rare Genomics Institute (RG), COO and VP of Patient Advocacy at RG. In 2016 she was awarded the Patient Advocacy Leadership award by Sanofi Genzyme. She trains volunteers on the topics of Genetics and Sequencing, directs a Patient Advocacy Program in next generation sequencing and research services to undiagnosed and rare disease patients and currently directs a philanthropic program with Illumina called iHope, offering free whole genome sequencing to children in need of a diagnosis.

Her goal is to integrate phenotypic medical information with genomic data to identify the genetic cause to disease and accelerate the path to treatment and a cure.

Dr. David Dongliang Ge is CEO and President of Apostle. Apostle Inc is a biotechnology company in Sunnyvale, CA focusing on novel bioinformatics-enabled nanotechnologies for cancer early detection. Previously, he was President of BioSciKin Co. and Simcere Diagnostics Co., two global biotechnology companies headquartered in Nanjing, China focusing on the licensing and sales of diagnostic technologies. Between 2011 and 2016, he was Director of Bioinformatics at Gilead Sciences, where he founded and provided leadership to the bioinformatics group and provided the strategic input to related infrastructure and process. Dr. Ge and his group led the phylogenomic analytical support for the critical regulatory approval of Sovaldi, a world-leading anti-HCV drug. In 2014 and 2015, Dr. Ge was invited to be a member of the U.S. National Human Genome Research Institute Special Emphasis Panel. Prior to Gilead, he was appointed as Assistant Professor of Biostatistics and Bioinformatics and Assistant Professor in Medicine at Duke University School of Medicine. He received his Ph.D. of Biostatistics and Genetic Epidemiology from Peking Union Medical College and Chinese Academy of Medical Sciences in 2004. Dr. Ge’s work in discovering the IL28B genetic variants associated with the clinical treatment responses, published in Nature in 2009, has received over 3000 times of citations to date. The invention was licensed to LabCorp and Quest Diagnostics, and has become clinical diagnostic services since then (LabCorp 480630 and Quest AccuType® IL28). The U.S. FDA has cited this ground-breaking discovery in several of the agency’s guidance for industry. Dr. Ge has authored or co-authored over 70 peer-reviewed articles, among which are 5 articles in Nature and 1 in Science, in total receiving over 15,000 citations. Dr. Ge was named by the U.S. Genome Technology magazine as one of the “Rising Stars” in 2009, and by the U.K. Phacilitate as one of the "Top 50 Most Influential People in Big Data" in 2015. OCM Member Daniel Cohen Pharnext France OCM Member Harsha Rajasimha Organization for Rare Diseases India USA OCM Member Amrik Sahota Rutgers University USA OCM Member Jane Larkindale Critical Path Institute USA OCM Member Stella Blackburn QuintilesIMS UK OCM Member Jacques Tremblay Laval University Canada

National Human Genome Research Institute Special Emphasis Panel.

Daniel Cohen , MD Phd, former Professor of Medical Genetics in Paris University has authored more than 150 peer reviewed papers in hire wired Journal , including the first integrated map of the Human Genome back in the 90’s. While he has discovered or co discovered numerous genes for rare and common diseases, he has also pioneered several key technologies like Large Scale Biology at Genethon, he cofounded in France, but also Pharmacogenomics, Genome Wide Association Studies and Network Pharmacology. He was a confounder of Millenium pharmaceuticals in Boston, MA. He is now Chairman, CEO and cofounder of the France Based company, Pharnext, focusing on treatment of unmet Neurodegenerative disorders by using Network Pharmacology.

orphan genetic

Amrik Sahota is a professor in the Department of Genetics, Rutgers University, Piscataway, NJ. He is also a clinical professor in the Department of Pathology and Laboratory Medicine and in the Division of Urology, Department of Surgery, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ. Dr. Sahota is a fellow of the American College of Medical Genetics and Genomics, National Academy of Clinical Chemistry, Royal Society of Biology (UK), and the Royal College of Pathologists (UK). He is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics and in molecular diagnostics by the American Board of Clinical Chemistry.

Dr. Sahota’s research interests are in genetic disorders of urolithiasis, mouse models for human disease, and molecular diagnostics.

Jane Larkindale, DPhil, is the Executive Director for the Duchenne Regulatory Science Consortium at the Critical Path Institute in Tucson, Arizona, concurrently serving as the Vice President for Research Development at the Friedreich’s Ataxia Research Alliance. She is a molecular biologist by training, having completed her DPhil (PhD) in the department of plant sciences at Oxford University in 2001, which she attended on a Rhodes scholarship. In the laboratory, she did research in areas as diverse as molecular biology, biochemistry, genomics, plant science, medical physics, marine biology, and industrial chemistry. In the course of this research, she published numerous original research papers and review articles in several disciplines.

Research Development at the Friedreich’s Ataxia Research Alliance.

Prof. Dr. Alireza Heidari, Ph.D., D.Sc. is a Full Distinguished Professor and Academic Tenure of Chemistry and also Enrico Fermi Distinguished Chair in Molecular Spectroscopy at California South University (CSU), Irvine, California, USA. He has got his Ph.D. and D.Sc. degrees from California South University (CSU), Irvine, California, USA. Furthermore, he has double postdocs in Project Management, Oncology, Human Cancer Tissues, and Synchrotron Radiation from Monash University, Melbourne, Victoria, Australia, and also in Nanochemistry and Modern Molecular Electronic–Structure Computations Theory from California South University (CSU), Irvine, California, USA. His research interests include Biophysical Chemistry, Biomolecular Spectroscopy, Quantum Chemistry, Nanochemistry, Modern Electronic Structure Computations, Theoretical Chemistry, Mathematical Chemistry, Computational Chemistry, Vibrational Spectroscopy, Molecular Modelling, Ab initio & Density Functional Methods, Molecular Structure, Biochemistry, Molecular Simulation, Pharmaceutical Chemistry, Medicinal Chemistry, Oncology, Synchrotron Radiation, Synchrocyclotron Radiation, LASER, Anti–Cancer Nano Drugs, Nano Drugs Delivery, ATR–FTIR Spectroscopy, Raman Spectroscopy, Intelligent Molecules, Molecular Dynamics, Biosensors, Biomarkers, Molecular Diagnostics, Numerical Chemistry, Nucleic Acids, DNA/RNA Monitoring, DNA/RNA Hypermethylation & Hypomethylation, Human Cancer Tissues, Human Cancer Cells, Tumors, Cancer Tissues, Cancer Cells, etc. He has participated at more than five hundred reputed international conferences, seminars, congresses, symposiums, and forums around the world as yet. Also, he possesses many published articles in Science Citation Index (SCI)/International Scientific Indexing (ISI), Medline/PubMed, and Scopus Journals. It should be noted that he has visited many universities or scientific and academic research institutes in different countries such as the United States, United Kingdom, Canada, Australia, New Zealand, Scotland, Ireland, Netherlands, Belgium, Denmark, Greece, Russia, Estonia, Ukraine, Turkey, France, Swiss, Germany, Sweden, Norway, Italy, Austria, Czech Republic, Hungary, Poland, South Africa, Egypt, Brazil, Spain, Portugal, Mexico, Japan, Singapore, Malaysia, Indonesia, Thailand, Taiwan, Hong Kong, South Korea, China, India, Qatar, United Arab Emirates, etc. as a research fellow, sabbatical and volunteer researcher or visitor and so on heretofore. He has a history of several years of teaching college students and various disciplines and trends in different universities. Moreover, he has been a senior advisor in various industries and factories. He is an expert in many computer programs and programming languages. Hitherto, he has authored more than twenty books and book chapters in different fields of Chemistry. Syne has been awarded more than one thousand reputed international awards, prizes, scholarships, and honors. Heretofore, he has multiple editorial duties in many reputed international

Pharmaceutical Chemistry Nano Drugs Delivery Medicinal Chemistry

Dr. Yavuz Selim Silay is the Co-Founder & CEO of MAIN(MaQasid Angel Investors Network) & chairman of Istanbul Consulting Group. MAIN(MaQasid Angel Investor Network) is one of the fast-growing global angel investment groups. ICG(Istanbul Consulting Group) was founded in 2013 and provided guidance to the Turkish ministry of health as part of a World Bank project. Yavuz is currently the Co-Founder of BioCube Ä°stanbul Bioentrepreneurship & Innovation Center and Corporate Communication Director of Archem Diagnostics. He previously managed the largest distributor of Siemens Healthcare in Turkey managing 250 employees and director of Avcilar Hospital R&D Center, Chief Medical Officer of Lifematrix GmbH. Previously he worked as the Market Access & Health Policy Director for AIFD in Turkey. Yavuz previously worked as the Vice President of Ipsen pharmaceutical and Director of Teva pharmaceutical in the USA managing large clinical trials as well as Investigator-Initiated Trials and developing relationships with Key Opinion Leaders. Previously, Yavuz was the Associate Director at KV Pharmaceuticals and Director of Clinical Development department at Forest Laboratories

Research Interest: Interaction with FDA. Development of generic and branded regulatory strategic plans for new product development, life cycle management of marketed products. Evaluation of potential products & in-licensing opportunities. Participate in all aspects of clinical development & study management, providing scientific, medical, and logistical direction and support to studies. Clinical development in CNS/Pain Managing Phase 2-4 clinical trials

Dr. Dai currently serves as Vice-Chair of the Physical Pharmacy and Biopharmaceutics (PPB) section in AAPS. Additionally, he is the current President of the Sino-American Pharmaceutical Professionals Association (SAPA)-Greater Philadelphia. SAPA is a nonprofit and pharmaceutical professional organization with over 4,000 members.

Dr. Dai currently serves as Vice-Chair of the Physical Pharmacy and Biopharmaceutics (PPB) section in AAPS. Additionally, he is the current President of the Sino-American Pharmaceutical Professionals Association (SAPA)-Greater Philadelphia. SAPA is a nonprofit and pharmaceutical professional organization with over 4,000 members.

Adeboye Adejare received BS (1978) and MS (1980) in Chemistry from the University of Iowa followed by Ph.D. in Medicinal Chemistry from The Ohio State University (1985). He did postdoctoral studies at the NIH prior to beginning his career in academia and rising to the current position of Professor. His research is geared towards the discovery of novel compounds that can be used to probe CNS disorders, pharmaceutical profiling, and drug targeting. He has over 40 publications, several issued patents, and over 100 meeting presentations. Many of his former students and postdoctoral associates are employed in academia and the pharmaceutical industry.

Drug targeting Mechanisms of neurodegeneration Chemistry of fluoroaromatic compounds Pharmaceutical profiling

He is a medical-physical scientist and an educator. He is the current President/CEO and Institute Professor at the International Institute of Medicine & Science with a previous appointment as Executive Vice President/Chief Operating Officer and Professor at the Weil Institute of Critical Care Medicine, California, U.S.A. He was formerly a Professor of Radiology, Radiological Sciences, Radiation Oncology, Critical Care Medicine, and Physics at several U.S. and European Universities. Earlier, he was Deputy Director (Western Region) of the U.S. Department of Veterans Affairs (Office of Research Oversight). At the Loma Linda Veterans Affairs Medical Center, he was Scientific Director of Radiology, Director of the Magnetic Resonance Imaging Center, and, for a time, Acting Chair of Radiology. Previously, he was also Director of the Division of Biomedical and Biobehavioral Research at the University of California at Los Angeles/Drew University of Medicine and Science and an Advisor to the U.S. National Academy of Sciences, National Research Council, for postdoctoral programs tenable at the California Institute of Technology. He is Health Advisor to the American Heart & Stroke Association, Coachella Valley Division, California. He is a frequent Keynote Speaker and International Organizing Committee Member of several international scientific conferences. He has lectured extensively in the U.S., Europe, Asia, and Africa. He has published ~ 425 scholarly scientific publications and books. He is also Editor-in-Chief, Honorable Editor, or Editor of 62 medical/scientific Journals to which he contributes regularly. Dr. Fymat is a Board member of several institutions, a professional member of the New York Academy of Sciences, and a reviewer for the prestigious UNESCO Newton Prize, United Kingdom National Commission for UNESCO. His current research interests are focused on neurodegenerative diseases (Alzheimer's, Parkinson's, epilepsy, dementia, and others), oncology, molecular/precision/personalized medicine, nanomedicine, and nanobiotechnology.

His current research interests lie at the interface between science and medicine, particularly molecular/personal/precision medicine, nanomedicine, human genetics/epigenetics/ecogenetics, and pharmacogenomics. His most recent publications deal with magnetic resonance Imaging with nanocontrasting materials, nanotechnology and cancer, nanochemotherapy, nanoneurology, natural and synthetic immunotherapy, drug delivery including across the brain-protective barriers, and drug manufacturing in Africa.

Dr. Ali Alyahawi; Ph.D. Degree in Clinical Pharmacy & Therapeutic, Ain Shams University; Egypt, 2016. Master’s Degree in Clinical Pharmacy & Therapeutic, University of Jordan; Jordan, 2010. Healthcare Quality Management Professional Diploma, Egypt, 2015. Bachelor’s degree in Pharmacy, Jordan University of Science and Technology; Jordan, 2005

His research is focused on pharmaceutical care, antibiotics resistance, and monitoring of drug effectiveness

I have diverse leadership experience as a health service professional with significant accomplishments in all aspects of pharmacovigilance, clinical development, medical affairs, regulatory affairs, primary health care, project management & international health programs. I have vast experience working in diverse therapeutic areas including rare diseases, novel preventive & therapeutic vaccines, monoclonal antibodies, cardiovascular, oncology, neurology, nosocomial diseases, and generic and OTC medicines. I am currently working as Disease Area Cluster Lead for Biosimilars & Drug Delivery Devices at Pfizer. Currently, Pfizer has the largest biosimilars portfolio in the industry that includes projects on Inflammation, Oncology, Hematology, ophthalmology, etc. My past experience includes working as Associate vice president PV and Therapeutic Area Head (Rare Diseases) for Sanofi Genzyme, working as Senior Director & Director for vaccines PV at Sanofi Pasteur, and working as Medical Consultant for Apotex Inc Canada. Prior to joining the industry, I had worked as Joint Executive Director for Pakistan Institute of Medical Sciences (PIMS), Registrar of the Postgraduate medical institute PIMS, and Deputy Director-General, Ministry of Health Pakistan. I have also worked on various primary healthcare, public health, health planning & development programs as well as World food, UNICEF, WHO & JICA-assisted programs on drug safety, emergency preparedness, and primary healthcare.

Pharmacovigilance, Drug safety

Emmanuel O. Akala, R. Ph., Ph.D. is a Professor of Pharmaceutics, Chair, Howard University Institutional Animal Care and Use Committee (IACUC), and Director, Laboratory for Nanomedicine, Drug Delivery, and Pharmaceutical & Biopharmaceutical Drug Products Design. His training is cosmopolitan and his curriculum vitae (CV) provides details of his professional training as a pharmacist and an immunization pharmacist (registered in Utah, Maryland, Washington DC, and Nigeria), a pharmacy professor, and a research scientist with a bias for conventional and novel drug delivery systems. Professor Akala received a B. Pharm. (Hons) degree and an M.Sc. (Pharmaceutics) degree at The University of Ife (now Obafemi Awolowo University), Ile-Ife, Nigeria, and a Ph.D. degree in Pharmaceutics at The University of Manchester, England (as a Commonwealth Scholar). He was a DAAD Fellow at the Institute of Biopharmaceutics and Pharmaceutical Technology, University of Munster, Germany, and an NIH Postdoctoral Fellow in Pharmaceutics and Bioengineering at The University of Utah, USA. He has worked as a pharmacist in Nigeria and USA, as a Lecturer and Senior Lecturer in Pharmaceutics in Nigeria, as a Teaching Assistant in England, as a Laboratory Instructor and Research Associate in USA and Germany, and as an Assistant Professor, Associate Professor and Professor of Pharmaceutics in the USA.

His research interests include Controlled Drug Delivery and Drug Targeting, Drug Formulation and Stability Studies, Pharmacokinetics in Pharmaceutical Dosage Form Design, Pharmacokinetics in Pharmaceutical Dosage Form Design, Drug Formulation, and Stability Studies, Biomaterials, Biopharmaceutical Application of Nanotechnology.

Anna Szemik-Hojniak is an associate professor (Molecular Photophysics), employed at the Faculty of Chemistry of the University of Wroclaw (Poland). She received her Ph.D. in Radiochemistry and her post-doctoral research work she conducted in Belgium [ULB(Phys. Chem)-Solvay Found, dir. Nobelist, prof. I.Prigogine; KULeuven-Radiochem.(Inst.Nucl.Sci.,Belg.At.En.Com.) and France (Centr, Nucl. Res,Strasbourg-CNRS). Her scientific interest is in Time-Resolved Emission Spectroscopy (Excited State Electron and Proton Transfer) of organic compounds for high - the tech and Pharmaceutical industries. Dr. Szemik performs intensive internet. scientific collaboration with the research groups from Holland (awarded by KNAW and NOW, Europ. Laser Centre), Germany (Berlin), France (Saclay), Russia, and Israel. In 2005, at the Faculty of Chemistry of the University of Wroclaw (Poland), she opened a new Laboratory of Molecular Photophysics. Since 1996, she participates in ICWES conferences (International Conference of Women Engineers and Scientists), and during the last 9 years, she served as INWES Board Director (“Distinguished Service Award”-2011). In 2007, she organized the International Symposium for Women Scientists and Engineers of New EU Countries and East Europe “Strategies for a Highly Skilled Global Workforce” (Letters of Congrats from EC-Directorate of Women in Science and from the Min.Sci.High Educ,-Poland). Anna publishes both professional papers and those on Women in Science. She cooperates with EC (Directorate “Women in Research and Innovations”) for the “Science: it is a girl thing” project (Letter of Congrats from the Polish Ministry of Science and High Education).

Pharmaceutical Industry, Excited State Electron, and Proton Transfer

Jean-Michel Schermann is a specialist in the mechanisms of drug transport across the blood-brain barrier. The beginning of Jean-Michel Scherrmann's scientific career in the 1970s was contemporaneous with the rise of radioimmunology, which he applied to drugs and toxic substances, developing polyclonal and then monoclonal antibodies. This method of analysis will open up numerous applications in clinical pharmacology and toxicology, the most significant of which has been the pharmacokinetics of digitalis in the elderly, morphine after intrathecal or epidural administration, and colchicine in its various therapeutic indications and in intoxications acute. These same antibodies will subsequently be used as an antidote to acute poisoning. His main contribution was to succeed in the first application of anti-colchicine antibody Fab fragments in man to treat colchicine intoxication. This clinical success expressed a new scientific message about the ability of an antibody to remotely induce the displacement of a quasi-irreversible intracellular drug. This clinical success has paved the way for immune-toxic therapy, which takes advantage of the ability of an antibody to sequester and then eliminate a toxicant. This concept of immunotoxic therapy, Was extended to antivenom treatments, then to cerebral detoxification by tricyclic antidepressant antibodies and abuse drugs such as cocaine. This last area has opened to Jean-Michel Scherrmann the way for in-depth research on protective mechanisms and passage through the blood-brain barrier. With his colleagues, he establishes the first quantitative proteomic analysis of the main enzymes of metabolism and membrane transporters (in particular the ABC proteins) at the level of the human blood-brain barrier. The functional role of ABC proteins in brain defense mechanisms has been amply illustrated by his team as a source of vulnerability and variability of responses to psychoactive compounds. In the field of exchanges at the level of the blood-brain interface, his team is looking for new strategies for brain addressing of drugs , by coupling to vector peptides recognizing the molecular targets of the blood-brain barrier. Jean-Michel Scherrmann is currently Dean of the Faculty of Pharmacy at the Paris-Descartes University and Director of the Joint Research Unit (Inserm 705 / CNRS 8206) "Neuropsychopharmacology of addictions". The laboratory's scientific project concerns the identification of neurobiological, pharmacokinetic, and pharmacogenetic factors of vulnerability and variability affecting addictive behavior, both in terms of exposure to natural and synthetic drugs and to associated therapies including Treatments with psychoactive substances and substitutes such as methadone and buprenorphine.

Mechanisms of drug transport, Neuropsychopharmacology of addictions, neurobiological, Pharmacokinetic, and Pharmacogenetic factors.

Zeeshan Ahmad obtained his BSc and Ph.D. (2007) from the University of London. He has worked as a Research Fellow on several drug delivery and biomaterials projects at Queen Mary and University College London before taking up a lectureship in Pharmaceutics at the University of Portsmouth, School of Pharmacy in 2010. He then moved to the Leicester School of Pharmacy in 2013 and recently was appointed as the Chair in Pharmaceutics (2016). He also leads a UK-wide initiative (academic and industrial) on EHDA Technologies and is also a Royal Society Industry Fellow. He has published extensively and specializes in drug delivery, nanotechnology, pharmaceutical technologies, and biomaterials. His research group comprises national and international Ph.D., MSc, and undergraduate students where focus is on developing advanced nano, micro, and macro drug delivery systems through interdisciplinary design, concepts, and technology.

Drug delivery, nanotechnology, pharmaceutical technologies, and biomaterials.