APARDO Summit 2019

Alba Ancochea is CEO in the Spanish Federation of Rare Diseases (FEDER) and its Foundation, which gathers more than 361 patient organisations.  Alba has a decade of experience and commitment in implementing and planning policies, programs and socio-health projects in the field of rare diseases.  She leads a team of more than 40 people who work to develop 25 specialised projects aimed at improving the quality of life of people living with a rare disease.  Alba has completed undergraduate and masters studies in psychology, special needs teaching and management of NGOs. Alba has had long standing experience in advisory committees, considering that, she had participated in the National Strategy for Rare Diseases.  Ministry of Health, Social Services and Equality (MSSSI).  In addition, she had participated in the Scientific Advisory Committee of the Biomedical Research Center in Rare Diseases Network (CIBERER).  The international projection of FEDER has enabled the creation of ALIBER and the incorporation of Alba on Board of Directors of EURODIS in May 2017.  She represents FEDER in Rare Diseases International and the EUORDIS Council of National Alliance.

Dr. Carmencita Padilla was trained in medicine and specialised in paediatrics at the Philippine General Hospital, University of the Philippines (UP) Manila. She then pursued her fellowship in Clinical Genetics at the Royal Alexandria Hospital for Children in Sydney Australia (1990). She also received her MA Health Policy Studies from UP Manila (2005). On returning to the Philippines in 1990, she set up the genetic services at the Philippine General Hospital and genetic laboratories at the National Institutes of Health. She is responsible for introducing newborn screening in the Philippines which later was supported by a law that she authored making NBS mandatory in 7000+ health facilities. She was a mentor in IAEA-funded newborn screening grants for the developing programs. She was also successful in acquiring funds for countries in the Asia-Pacific region for which she organised a series of training workshops. She converted the U.S. Performance Evaluation Assistance Scheme (PEAS) into multiple Philippine PEAS capable of providing quality performance criteria against which to judge the success of screening centers, birthing centers and follow-up service providers. Additionally, because there is a lack of genetic service providers capable of providing diagnosis, management, counseling and other ancillary NBS support services, Dr. Padilla organized the first academic program to provide clinical genetic fellowship and a genetic counseling certification program in the Philippines. Dr. Padilla has received many distinguished awards and honours, amongst others the 2017 R.Rodney Howell Award for Excellence in Newborn Health issued by the US Newborn Screening Foundation and the 2017 Robert Guthrie Award issued by the International Society for Neonatal Screening for her outstanding contributions to newborn screening. Dr. Padilla is an Academician of the National Academy of Science and Technology, Philippines. She presently serves as Professor in Pediatrics and Chancellor of  UP Manila. Dr. Padilla is Founding Chairman of the Philippine Society for Orphan Disorders. She is responsible for the Rare Disease Act of 2016.

Duangrurdee Wattanasirichaigoon is currently Professor and Chief of Division of Medical Genetics, Department of Pediatrics, Ramathibodi Hospital, Mahidol University; Chair of Medical Genetics Network, Genetics Society of Thailand.  She obtained Doctor of Medicine from Faculty of Medicine, Khon Kaen University, Board of Pediatrics from Ramathibodi Hospital, Diploma of the American Board of Medical Genetics (Clinical Genetics and Clinical Molecular Genetics) in 1999, from Children's Hospital, Harvard University, Boston, USA.  She is a co-founder and a consultant of Prader-Willi Syndrome Association of Thailand, professional delegate member of the International Prader-Willi Syndrome Association (IPWSO), a leader of rare disease advocacy in Thailand including chair of the 1st-9th Rare Disease Day event in Thailand (2011-2019) a co-founder of the Thai Rare Disease Foundation (ThaiRDF, 2017), and recently a member of Working Committee fro Rare Disease Policy appointed by National Health Security Office (NHSO).  Her researches involved inborn metabolic disorders, dysmorphic and chromosomal disorders, genetics of hearing loss and Duchennne muscular dystrophy, and recently psychosocial and counseling aspect and patient/ caregiver survey of families with rare diseases.

Durhane made a significant contribution to the haemophilia community following the tainted blood scandal, serving as president from 1994-98. She began working with CORD as a volunteer in 2006 when she developed an Orphan Drug Policy and headed the advocacy campaign to access to new therapies. In 2012, Durhane became president of CORD.  Durhane believes strongly in the value of international collaboration, serving on the Board of the International Alliance of Patients’ Organizations and as Chair from 2011-2013.  She joined EURORDIS to learn as much as possible from European initiatives. Canada has benefitted from this association and was the first non-EU country to adopt Rare Disease Day in 2008. Durhane also took an active role in helping to set up the Asia-Pacific Alliance of Rare Disease Organizations, serving as Secretary of the newly registered alliance.  Durhane has a PhD in psychology and, alongside her husband, has adopted two children, each born with different rare conditions.

When Edmund’s younger son Branden was diagnosed with Spinal Muscular Atrophy (SMA), Edmund was told to prepare for the worst. Despite facing many obstacles, there is no giving up, and Edmund's family strives to keep growing up together in a life that is active, engaged and hopeful. 

His message reaches many people on national newspapers, radio and television, including senior stakeholders from government, the medical profession, the pharmaceutical industry, and leading corporations. There is a lot that must be done to satisfy the significant unmet needs of the SMA and rare diseases community. With his wife Sook Yee, they founded and run WeCareJourney (www.WeCareJourney.org), with a mission to C.A.R.E for families with SMA and other rare diseases - by (C) Caring for and Connecting families to the information, people and resources they need; (A) taking Action to Advocate and create Awareness; (R) promoting all stakeholders to be Ready and Responsible to do their part; and (E) Empowering affected families through Education.  Branden’s future remains uncertain, but his sunny personality inspires Edmund to remain dedicated full time to helping the SMA and rare disease community to feel good and do well.  rior to WeCareJourney, Edmund held senior leadership positions in top multinational companies. He holds degrees in both Law and Finance & Accounting, and is a CPA, CFP, and a licensed independent financial advisor.

Eric Obscherning is a consultant at Crowell & Moring International, an international policy and regulatory affairs consulting firm based in Washington, D.C., where he supports the firm's global health practice.  Eric is an Advisor to the Asia Pacific Economic Cooperation (APEC) Life Sciences Innovation Forum (LSIF) and the Secretariat for the APEC Rare Disease Network.  Prior to joining C&M International, Eric was a consultant with Manchester Trade, involved in corporate social responsibility at GlobalGiving, and an early employee of an aquaponics startup.  His written work has appeared in Governance in an Emerging New World (Hoover Institution Press), Climate Change & Public Health (Oxford University Press), Journal of the American Medical Association, and Global Heart.  He received a BS in biology and English and a Certificate in Global Health from the University of Wisconsin-Madison, and studied NCDs and precision medicine at the U.S. National Institutes of Health.

Karla Ruiz de Castilla is currently the Coordinator of LAPA “Latin American Patient Academy”. She is based in Peru, working for ESPERANTRA helping patients with cancer, rare diseases and other chronic conditions. Karla has a master's degree in Economics and Administration from the University La Sapienza in Rome, Italy. She also has experience in health technology assessment working with Government Officials and Private Companies.  Karla has been collaborating with patients and patient organizations for more than 10 years to empower their voices and increase their participation in health system decision-making at all levels. Karla is driven by a strong belief in patient-centered medicine as a means to strengthen health care systems, and thus improve patient access to needed treatments and services. She is the founder of the Latin American Union Against Lung Cancer (ULACPUL), board member of the Ibero American Alliance for Rare Diseases (ALIBER), and member of the Union for International Cancer Control (UICC), organization that elected Esperantra as the first South American Country Champion.

Kin Ping, a retired business executive with Retinitis Pigmentosa, has been actively volunteering for patients’ groups for some decades, both in Hong Kong and internationally. In March 1995, along with fellow patients, he founded Retina Hong Kong, a self-help organisation for patients with retinal degenerative diseases; he has been the association’s serving President since then.  Kin Ping is also President of the Hong Kong Alliance for Rare Diseases, the Vice-Chairman of Hong Kong Patients’ Voices (an advocacy platform in the healthcare sector), a board member of AMD Alliance International, and he has been serving on the management committee of Retina International since 2000.

Lisa holds a BSc (Hons) degree in Biomedical science, with experience as a research scientist in the field of genetics. Lisa also holds a Diploma in Anatomy, Physiology and Massage along with a Certificate in Psychology and a Diploma in Herbal Studies. She has worked in the New Zealand health industry for over 10 years. The range of her experience covers assessing and facilitating care packages for older people, employment support in the mental health area and leading a team offering crisis respite and transitional housing for youth. The blend of experience provided a strong platform for supporting people with rare diseases. Lisa has worked as a Relationship Manager with Rare Disorders NZ for two years before becoming Chief Executive in August 2019. She is wholeheartedly committed to offering effective advocacy and support to people living with rare diseases.  Lisa has represented and spoken at GP conferences, Tuberous Sclerosis conference and with many Members of Parliament and Ministry of Health meetings.

Lucky S. Slamet was the Deputy Head for Therapeutic Products and Narcotics, Psychotropics, and Hazardous Substances in the National Agency of Food and Drug Control (NAFDC) Indonesia from 2001-2011, and then became the Head of the NAFDC 2012-2013. During her career of more than 30 years as a government official, she has accumulated extensive professional experience in the field of pharmaceutical and vaccine, at the national, regional and international levels. Now, she is an independent consultant/expert with her main professional capacities is regulatory sciences, in particular on pharmaceutical and biologicals. She involves in the Drug Evaluation Committee in the NADFC as member and independent expert as well as in the standardization and regulatory aspects of pharmaceutical including vaccine in Indonesia.  At the regional and global level, she participated in the ASEAN Pharmaceutical Product Working Group (PPWG) from 1999 to 2013 as the Indonesian Head Delegation. From 2006 until 2009, she served as the Chairperson of Developing Country Vaccine Regulator Network (DCVRN). As an independent expert, she involved in the assessment of the implementation of ASEAN Harmonization on Pharmaceutical under WHO-ASEAN Project in 2015 – 2016; and became WHO temporary technical Advisers in many WHO consultative meetings, among others on the subjects of Regulatory System Strengthening, Good Regulatory Practices, development of WHO Southeast Asia Network (SEARN). She was member of WHO ECBS (Expert Committee of Biological Standardization) from 2009-2016, and member of ECSPP (Expert Committee on Specification for Pharmaceutical Preparations) from 2010-2013. She was the member of Steering Committee on Decade of Vaccine (WHO-GAVI-BMG Foundation) from 2011-2013, and is member of SOC (Scientific Organizing Committee) of Global Vaccine and Immunization Research Forum for the period of 2015-2016, 2017-2018, and 2019- 2020.  She participated in the WHO NRA Assessment Team of the Vaccine Regulatory System in some countries (The Philippines 2000, China 2014; Mexico 2015) and became trainer/facilitator for WHO Vaccine Global Learning Opportunities (GLO) on Clinical Data Evaluation  (in Indonesia, Jordan, Vietnam); on Clinical Trial Authorization (in Indonesia); and on Quality and non-Clinical Data Evaluation (in Vietnam, UEA, Tunisia, Turkey, Greece) (2014-2018). She also involved as an independent consultant (by contract) for the World Bank in Timor Leste  on Drug Supply Management and Regulatory strengthening (2014-2015); for ADB and Centre of Regulatory Excellence(CoRE)-Singapore on Anti Malaria Project in 5 Mekong countries (2015-2016); for WHO SEARO on Regulatory Network of SEA countries (July-August 2016); and for WHO-World Vision in Papua New Guinea (2016-2017). She serves as the board member of the Concept Foundation, Thailand/Switzerland (2015-2017; 2018-2020); a visiting expert in CoRE-NUS, Singapore for training on fundamental pharmaceutical regulation, 2018; and panelists in ADVAC training, France, 2018.

Professor Bellgard is the inaugural eResearch Director at Queensland University of Technology. He has attracted AUD$44m in research funding, is co-inventor of 5 patents and has co-authored over 151 articles. He has led the design and development of digital health solutions, particularly for rare diseases, for government, industry and academia across multiple jurisdictions. He is Chair of the APEC Rare Disease Network which has overseen the development the APEC’s Rare Disease policy that, endorsed by the 21 APEC economies, aims to set a precedent to integrate rare disease care by 2025. This work was recently presented at the Rare Disease Day policy event at the United Nations

Nidhi Swarup has two Masters Degrees; one in Operations Research from the University of Delhi, India and the other in Finance from University of Leicester, U.K.  She also has a Graduate Certificate in Counselling from Swinbume University of Technolgoy, Australia.  Nidhi had started her journey with Rotary in 1998 as a dedicated volunteer for two years.  Subsequently, se accepted the invitation to work for the Foundation of Rotary Clubs (S) Ltd.  She gained more than 10 years of Management Experience in Social Service.  In 2011, Nidhi decided to stop working to control her medical condition.  Together with nine other Rotarians from five Rotary Clubs in Singapore, Nidhi founded a charity in May 2012 to help patients diagnosed with Crohn's Disease or Ulcerative Colitis.  

Nikki Kitikiti is a Senior Resident at the Centre of Regulatory Excellence, or CoRE for short, at Duke-NUS Medical School in Singapore. (CoRE) was established in 2014 to support the strengthening of health product regulatory systems in the Asia Pacific region. Guided by its mission, CoRE contributes to improving patient access to health products and enhancing regional health systems and health security. Nikki is a medical doctor, specializing in Public Health, with almost a decade of experience across public sector hospitals and public health agencies in Singapore ad previous roles in HIV vaccine research in Africa.  Her main areas of work are in regulatory system strengthening, promoting health policy innovation,  improving access to medicines, combating substandard and falsified medicines and adopting digital health solutions into health systems. At CoRE, she is also part of a patient engagement initiative that seeks to create a multi-stakeholder alliance to accelerate patient engagement in access to medicines and health systems across the Asia Pacific region. 

A physician-scientist by training, Rachel has been in charge of CORD's international affairs since 2015, representing CORD on the global stage, and bridging CORD and the rare disease communities in China with their counterparts in the rest of the world.  In 2016, Rachel led the CORD team to successfully win the bid for hosting the next ICORD Annual Conference in China.  Ans subsequently in 2017, as the Program Co-chair, she played the critical "ambassador" role coordinating among the three hosting organizations, together delivering one of the most successful ICORD annual conferences - 2017 ICORD Beijing Conference.

Ritu is president of DEBRA Singapore, the Epidermolysis Bullosa (EB) patient advocacy and support organization that she helped establish in 2015. Ritu’s focus has been to offer emotional and material support to patients and families, organise local and regional conferences for capacity building and improved delivery of EB care, and advocate for policy changes.  Ritu has been an engaged member of the RDI council since 2017. She has actively contributed to drafting RDI’s strategy plans, objectives and bylaws and is working towards strengthening and extending the Rare network in the Asian regions.  Beyond her volunteer roles, Ritu is a sociolinguist and teaches graduate and under-graduate students at a local university.

Safiyya is currently a Director for Global Public Affairs Rare Disease at Pfizer.  In this role, she works closely with the rare disease community to advance policy issues of mutual interest.  Prior to this role, Safiyya was a part of PhRMA International's policy group, where she led the biopharmaceutical industry efforts around healthcare reform.  Her work involved engagement with the WHO, OECD, and national organizations.  Along with industry experience, Safiyya has held roles in non-profit and academia.  Safiyya holds an MSPH in Health Policy from Johns Hopkins School of Public Health and a Bachelor of Arts & Science from McGill University.

Attending Physician, Department of Pediatrics and Medical Education, Buddhist Tzu Chi Medical Center; Chief, Department of Genetic Counseling Center, Buddhist Tzu Chi Medical Center; Assistant Professor, School of Medicine, Tzu Chi University.  She attended National Taiwan University (1988-1995) school of medicine and received her Master Science of Human Genetics at Tzu Chu University (2002-2005).

Ya Hsin Wang is the Secretary-General of Psoriasis Association Taiwan and the Executive Director of Taiwan Alliance of Patients' Organizations.  Ya-Hsin is a graduate of Taipei Medical University with a degree in nutrition and health sciences and has worked as a dietician for many years.  22 years ago, she was diagnosed with psoriasis which for her, came with a lot of pain.  However, her patient journey allowed her to develop a deep sympathy for other suffering patients and now as a patient representative, she strives to ensure that the core values of patient-centered healthcare are implemented in the real world.

Yukiko Nishimura is President/Founder of NPO ASrid (Advocacy Service for Rare and Intractable Diseases' stakeholders in Japan).  ASrid is very unique organization and committed to providing the valuable services/system for "connecting" and "creating" with/among multi-stakeholders related to its field, as an Intermediate Organization.  Based on Yukiko's effort, ASrid and JPA (Japan Patienets Association) has contracted MOU about research promotion and drug development area, and also collaborated with Pediatric NANBYO network, the biggest Pediatric Rare Diseases network in Japan.  Yukiko has worked/collaborated with the patients/patients' families and among stakeholders in rare and intractable disease and orphan drug field for about 10 years.  Yukiko had worked as a Chief Secretariat of International Relations, JPA (2011-2016), as an Assistant Professor of Reaseach Center for Advanced Science and Technology, The University of Tokyo (2007-2015), visiting lecturer of Institute for Integrated Cell-Material Science, Kyoto University (2009-2012) as a technical consultant of MEXT (Ministry of Education (2005-2009.  Yukiko has a board member of ICORD committee since 2010, and her team was a main organizer of ICORD Tokyo.