Von Hippel–Lindau disease (VHL), also known as VonHippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3.
A rare disease is a disease that affects a small percentage of the population. In some parts of the world, the term orphan disease describes a rare disease whose rarity results in little or no funding or research for treatments, without financial incentives from governments or other agencies. Orphan drugs are medications targeting orphan diseases.
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a buildup of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides) in the body's lysosomes.
Eric von Hippel is an American economist and a professor at the MIT Sloan School of Management, specializing in the nature and economics of distributed and open innovation. He is best known for his work in developing the concept of user innovation – that end-users, rather than manufacturers, are responsible for a large amount of innovation. In order to describe this phenomenon, in 1986 he introduced the term lead user.
Hepatomegaly is enlargement of the liver. It is a non-specific medical sign, having many causes, which can broadly be broken down into infection, hepatic tumours, and metabolic disorder. Often, hepatomegaly presents as an abdominal mass. Depending on the cause, it may sometimes present along with jaundice.
A Patient Safety Organization (PSO) is a group, institution, or association that improves medical care by reducing medical errors. Common functions of patient safety organizations are data collection, analysis, reporting, education, funding, and advocacy. A PSO differs from a Federally designed Patient Safety Organization (PSO), which provides health care providers in the U.S. privilege and confidentiality protections for efforts to improve patient safety and the quality of patient care delivery
The Institut national de la santé et de la recherche médicale is the French National Institute of Health and Medical Research.
Orphanet is an organisation and knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks.
The World Health Summit is an international conference that has been held in Berlin every October since 2009. It has developed into one of the world's leading global health conferences. It was held for the first time on the occasion of the 300th anniversary of the founding of the Charité. 2,500 experts from around 100 countries from science, business, politics and civil society discussed the most important issues of global health care and made recommendations. The academic backbone of the event is the M8 Alliance of Academic Health Centers, Universities and National Academies. From the very beginning, the World Health Summit has been under the patronage of the German Chancellor and the French President. Since 2019, the Director-General of the World Health Organization (WHO) has also been a patron of the World Health Summit.
The Rare Diseases Clinical Research Network (RDCRN) Contact Registry is a patient contact registry started in 2004 and sponsored by the National Institutes of Health (NIH). The RDCRN Contact Registry collects and stores the contact information of people who want to participate in RDCRN-sponsored research or learn more about RDCRN research. It connects patients with researchers in order to advance rare disease research.
Jeroen Tas is a Dutch entrepreneur and senior executive in the healthcare, information technology and financial services industries. In February 2017, he assumed the role as Chief Innovation & Strategy Officer at Philips Healthcare, a position he held until July 2021. He currently works on Strategic Business Development and is also a member of the executive committee at Royal Philips.
The Orphanet Journal of Rare Diseases is a peer-reviewed open access medical journal covering research on rare diseases. It was established in 2006 and the editor-in-chief is Francesc Palau. It is an official journal of Orphanet and is published by BioMed Central, which is part of Springer Nature.
Pedro Oliveira is a Portuguese innovation scholar who is Dean of Nova School of Business and Economics for the period 2023-26, succeeding Daniel Traça. He is also Calouste Gulbenkian Foundation Chair Professor for the Impact Economy and Full Professor at Nova School of Business and Economics, professor with special responsibilities at Copenhagen Business School, and an entrepreneur. Previously he was a professor of Technology and Innovation Management at Católica Lisbon School of Business & Economics. He is best known for his work in the notion of patient innovation and for founding the Patient Innovation platform. He is also an Academic Scholar at the Cornell Institute of Healthy Futures. Pedro was Senior Associate Dean for Faculty and Research at the Católica Lisbon School of Business and Economics and an International Faculty Fellow at MIT Sloan School of Management, where he worked with Eric von Hippel. He received his PhD in Operations, Technology and Innovation Management from the University of North Carolina at Chapel Hill.
Inspire is an Arlington, Virginia-based healthcare social network. It builds and manages online health communities for patients and caregivers, and connects patients to life science companies for the purpose of research.
Ada Health is a global health company created by doctors to improve human health by transforming knowledge into better outcomes. The company has headquarters in Berlin, with offices in New York, London, and Toronto.
Eyeluminati is a technology company based in Washington DC which developed from a project led by Roopam Sharma and Neeraj Saini. They entered for the Microsoft Imagine Cup 2015 and won the innovation category with the Manovue project. This is an intelligent personal assistant in the form of a glove for the visually impaired which reads printed or digital text aloud. It also helps people to move around and to use computer technology. It went on to win the World Health Summit Startup Award 2018. They also won the Cognitive Computing & Internet of Things in the fourth season of Yahoo Accenture Innovation Jockeys in 2015.
BETIC based at Indian Institute of Technology Bombay is an inter-disciplinary multi-institution initiative for medical device innovation. Established in 2014 with support from the government of Maharashtra, it comprises a network of 14 engineering and medical institutes across the state. The BETIC team have developed 50 medical devices as of 2019, and licensed 20 of them to startup companies or industry for mass production.
Merative L.P., formerly IBM Watson Health, is an American medical technology company that provides products and services that help clients facilitate medical research, clinical research, real world evidence, and healthcare services, through the use of artificial intelligence, data analytics, cloud computing, and other advanced information technology. Merative is owned by Francisco Partners, an American private equity firm headquartered in San Francisco, California. In 2022, IBM divested and spun-off their Watson Health division into Merative. As of 2023, it remains a standalone company headquartered in Ann Arbor with innovation centers in Hyderabad, Bengaluru, and Chennai.
Catarina Resende de Oliveira is a Portuguese neurologist, researcher, university professor, and doctor. A full professor of biochemistry at the Faculty of Medicine of the University of Coimbra, she studies the processes that cause neurological degeneration responsible for illnesses such as Alzheimer's disease and Parkinson's disease.
