Phd Fair Rare Disease Data to Accelerate Diagnosis
1 maand geleden
**About the project**:
Rare diseases present unique challenges in both clinical and research settings due to the limited number of patients affected by each condition. Despite this, the sheer number of rare diseases collectively affects a significant portion of the population, with an estimated 30 million patients in Europe. The goal of this PhD project is to explore how **FAIR** **(Findable, Accessible, Interoperable, Reusable)** principles can be applied to make data from rare disease patients more useful for clinical research methodologies, which typically require larger patient populations.
- Want to read more about a PhD in Amsterdam UMC? See _this page_ for more information._
**About the role**:
You will conduct research on the following key areas:
- Identifier Mapping: Investigating the challenges of mapping biomedical identifiers across different data sets and standards, ensuring accurate representation of data in diverse research contexts;
- Ontology Design and Ontology Mapping: Developing and reusing ontologies that facilitate the integration and interpretation of biomedical data primarily by improving interoperability;
- Digital Preservation of Biomedical Data within Legal and Privacy Frameworks: Ensuring that biomedical data, particularly from rare disease populations, is preserved and accessible in accordance with legal, ethical, and privacy guidelines;
- Persistence Management of Machine-Readable Knowledge Repositories: Designing strategies to maintain the long-term accessibility and usability of machine-readable biomedical data repositories, supporting the ongoing FAIRification process.
As a PhD student on this project, you will:
- Investigate how data on rare diseases can be made more FAIR;
- Work on mapping and reusing biomedical terminologies, with a focus on context-sensitive harmonization between standards;
- Explore how to increase the exposure of rare disease data to a broader audience of scientists while adhering to privacy and legal regulations;
- Develop semantically rich schemas and ontological models to enhance the FAIRness of collected project data.
Furthermore, you will:
- Conduct your research within an active group at the department of Medical Informatics;
- Work within a collaborating European network of scientists working on Rare Disease research, including in the **ERDERA** project;
- Disseminate your results at (inter)national conferences and publish your work in peer-reviewed journals.
**Profile**:
You are motivated and enthusiastic to perform PhD research and passionate about improving care for patients with rare diseases. You aspire to make a meaningful contribution to the fields of medical informatics and rare diseases by combining theory, practice, and technology.
Prerequisites:
- Master's degree in (bio)medical informatics, cheminformatics, data science or related fields;
- Strong interest in rare diseases and biomedical data;
- Strong analytical and programming skills and the ability to work independently as well as in a collaborative environment;
- Excellent English communication skills, both written and verbal.
Not required, but helpful:
- Familiarity with data governance principles, GDPR, GCP, and/or FAIR data principles;
- Knowledge on community standards such as SNOMED CT, ORDO, OBO and ICD is a plus;
- Affinity and preferably experience with writing research papers;
- Proficiency in Dutch.
**Please upload CV and cover letter in English due to English speaking selection committee member.**
**Our offer**:
- A flying start to your career in scientific research;
- Plenty of room for your drive to shape tomorrow's healthcare;
- Working on large-scale and in-house research, with motivated colleagues from all over the world;
- You will be employed by Amsterdam UMC Research BV;
- PhD students are placed in the OIO scale: € 3.017 to € 3.824 gross for full-time employment (depending on education and experience);
- Besides a good salary you will receive an 8.3% end-of-year bonus and 8% holiday allowance;
- Holiday hours: 186,4 per year for fulltime and a possibility to save additional hours;
- Pension accrual with BeFrank, a modern, comprehensible and fairly priced pension;
- For >7 km each way, 100% reimbursement for public transport travel costs and, for private transport, €0.18 per km up to a maximum of 40 km each way;
- Do you prefer walking or cycling? Take advantage of our good bike scheme. Moreover, you will receive a reimbursement of €0.18 per km.
Watch this video with more information about joining Amsterdam UMC Research BV.
**About the workplace**:
At the **department of Medical Informatics**, about 70 people collaborate on research, teaching, and valorization.
The research in our department consists of six research lines:
- Reusable Health Data
- Methods in Medical Informatics
- Human Factors Engineering
- Quality of care (IT systems)
- Epidemiology of kidney disease
- PharmacoInformatics
Further, we contribute to the Bachelor's and
-
Phd Epidemiology of Dialysis and Kidney
2 maanden geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: **About the role**: As a PhD student, you will conduct research in the field of epidemiology of patients with kidney disease who are treated with dialysis or a kidney transplant. Your research will focus on international differences in the occurrence and outcomes of these patients. We are currently expanding the ERA Registry database...
-
Medical Science Liaison
6 maanden geleden
Amsterdam, Nederland IQVIA VoltijdMedical Science Liaison – Nephrology / Rare Diseases IQVIA is currently recruiting for an experienced MSL to cover UK, Ireland and Netherland, following the recent launch of a highly anticipated monoclonal antibody product in the Nephrology/Rare diseases therapy area (PNH & aHUS). Our customer is a global biopharmaceutical company, dedicated to...
-
Phd Understanding and Repairing Astrocyte
1 maand geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: Research in the **Amsterdam Leukodystrophy Center** aims at improving insight into leukodystrophies and developing treatment. The disease **“Megalencephalic Leukoencephalopathy with subcortical Cysts”** (MLC) has been a major research focus since long. In MLC, the homeostasis of ions and water in the brain is disrupted due to a...
-
Medical Science Liaison
6 maanden geleden
Amsterdam, Nederland Novartis Voltijd**Summary**: Medical Science Liaison - Rare Diseases Location: Amsterdam As Medical Science Liaison you will lead the scientific engagement with key Medical Experts & key stakeholders in the health care system in connection to the Novartis Priority Brands/Essential Brands/Early Portfolio. Externally, you will execute and implement clinical and educational...
-
Phd Position Vascular Immunometabolism
2 maanden geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: In this PhD project, you will delve into the intricate relationship between endothelial cell metabolism and immunomodulation in the context of atherosclerosis. Your research will focus on understanding how alterations in endothelial cell metabolism are linked to their inflammatory phenotype and how these cells act as active...
-
Phd Student to Study Quality of Life and Cancer
4 maanden geleden
Amsterdam, Nederland Netherlands Cancer Institute Voltijd**Function description**: - The research group of Lonneke van de Poll aims to understand the long-term and late effects of cancer treatment on symptoms, quality of life and socio-economic impact. Funded and in collaboration with the EORTC Quality of Life Group, we have developed a Survivorship Questionnaire (QLQ-SURV100). It measures the HRQOL of cancer...
-
Lab Technician for Laboratory Genetic Metabolic
6 maanden geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: **Lysosomes** are known as the recycling centers of the cell, breaking down and recycling cellular waste, macromolecules, and organelles to maintain cell health. As we age, lysosomal function can decline, leading to an accumulation of cellular debris and dysfunctional proteins, which is thought to contribute to the aging process and...
-
Phd On Denguevirus Infection in Human
2 maanden geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: There is a poor understanding of the pathogenesis of disease in humans for many viruses such as dengue virus due to a lack of adequate human models. Therefore, this specific project within the OrganoVIR Labs at Amsterdam UMC will employ advanced human blood-brain barrier and brain organoids to study neuropathogenesis of dengue virus....
-
Postdoc Position: Implementation of The Fair
6 maanden geleden
Amsterdam Zuid, Nederland Vrije Universiteit Amsterdam Voltijd**Your function**: Are you a computer scientist with a strong background in Linked Data and/or knowledge graphs and keen to contribute to research infrastructure across the field of Social Sciences and Humanities (SSH)? Would you like to be a member of a national team of leading researchers within those domains? Would you like to work on increasing...
-
Phd Student or Postdoc Vascular Contribution to
3 weken geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: Several types of dementia, including Alzheimer’s disease, are associated with vascular problems. Aging, and risk factors such as high blood pressure contribute to impaired vascular function. This involves stiffening of the arteries, poor regulation of blood flow, and reduced clearance of waste products. Aging is also associated with...
-
Bio-informaticus Data Analist Ibd
6 maanden geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: **Inflammatory bowel disease (IBD) **constitutes a group of incurable, chronic, relapsing diseases of the gastrointestinal tract, stemming from a dysregulated interplay between the environment and the immune system in genetically susceptible individuals. We are seeking a skilled Bioinformatics Data Analyst with a passion for leveraging...
-
Phd Functional Recovery and Resilience After
6 maanden geleden
Amsterdam Zuid, Nederland Amsterdam UMC Voltijd**About the project**: Sooner or later, most older adults experience functional decline in one or more areas, including mobility, self-care and social interaction. Although many older adults manage to maintain their well-being despite functional decline, this is far from true for everyone. Annually, 8 to 16% of older adults experience clinically significant...
-
Director, International Scientific Communications
4 dagen geleden
Amsterdam, Nederland Rhythm Pharmaceuticals Voltijd**Company Overview** Rhythm is a global, commercial-stage biopharmaceutical company committed to transforming the lives of patients and their families living with rare neuroendocrine diseases. We develop medicines for previously untreatable or undertreated diseases and provide meaningful support for healthcare providers and patients and their families. We...
-
Inhibiting Acute Episodic Neurological Decline in
2 maanden geleden
Amsterdam-Zuidoost, Nederland Amsterdam UMC Voltijd**About the project**: Research in the Amsterdam Leukodystrophy Center aims at improving insight into leukodystrophies and developing treatment. The disease **“vanishing white matter” (VWM)** has been a major research focus since long. VWM mostly affects children. We defined this disease 30 years ago and identified the related genes in 2001. VWM is...
-
Phd in Biophysics: Single-cell Tracking in Organoids
1 maand geleden
Amsterdam Oost, Nederland AMOLF Voltijd**PhD in biophysics: Single-cell Tracking in Organoids**: **Work Activities**: **Summary -** In this project, you will use advanced 3D imaging and AI-driven cell tracking to reveal the remarkable self-organization of cells within intestinal organoids. Using a biophysics approach, you will study how stem cells move, grow, divide, and differentiate into...
-
Postdoctoral Researcher
4 weken geleden
Amsterdam, Nederland Antoni van Leeuwenhoek Ziekenhuis VoltijdJouw functie The Netherlands Cancer Institute and the Antoni van Leeuwenhoek Hospital form a comprehensive cancer center, combining a research facility and a hospital under one roof in a single, independent organization. Research is focused on improving cancer treatment through imaging and molecular diagnostics, new medicine, immunotherapy, improved...
-
Data Distribution Specialist
4 weken geleden
Amsterdam, Noord-Holland, Nederland ABN AMRO Bank VoltijdCompany OverviewABN AMRO Bank is a leading financial institution with a strong presence in the market. Our team is committed to delivering innovative solutions that drive business growth and excellence.Job DescriptionWe are seeking an experienced Data Distribution Specialist to join our team. As a key member of our organization, you will play a pivotal role...
-
Market Manager Rare Diseases
4 weken geleden
Amsterdam, Nederland Chiesi Farmaceutici Voltijd**Date**:25 Nov 2024**Department**:Rare Central-North EU**Team**:Mktg, Market Access, Bus. Excellence & Med. Affair**Job Type**:Direct Employee**Contract Type**:Permanent**Location**:Amsterdam or Brussels, NL- Are you passionate about shaping the future of healthcare? Do you thrive in dynamic environments where collaboration, strategy, and execution come...
-
Core Facility Data Steward
6 maanden geleden
Amsterdam Zuid, Nederland Amsterdam UMC Voltijd**About the role**: You will join a integrated data & compute team, consisting of field experts, data stewards and HPC engineers, to facilitate the storage, processing, integration and sharing of scientific research data according to the FAIR principles. You will work closely with the staff of the imaging, flow cytometry and omics core facilities (genomics,...
-
Medical Lead Rare Diseases
1 dag geleden
Amsterdam, Nederland Chiesi Farmaceutici Voltijd**Date**:19 Dec 2024 **Department**:EU & Int'l Local Medical Affairs **Team**:Mktg, Market Access, Bus. Excellence & Med. Affair **Job Type**:Direct Employee **Contract Type**:Permanent **Location**:Amsterdam or Brussels, NL - Chiesi is looking for a Medical Lead to join the Rare team in the Benelux affiliate. This role offers a great opportunity for...