Summary

Back to summary

Editorial
Political news
Scientific news
And also...

Share:

Edition of 23 February 2018

European News

The orphan maintenance assessment reports to be published by the EMA after marketing authorisation

According to the European legislation, a medicinal product can qualify for orphan designation, "if it targets a disease that is life-threatening or chronically debilitating that affects less than 5 in 10,000 patients in the EU". The medicine is assessed by the Committee of Orphan Medicinal Products (COMP) during its developmental phase view to obtaining an orphan designation to access incentives supporting the development activities. The COMP also assesses whether the medicine retains its orphan designation at the time of marketing authorisation, to establish its eligibility for 10-year exclusivity. Following the request of stakeholders, the EMA will now publish an orphan maintenance assessment report for every orphan-designated medicine as part of a medicine’s European Public Assessment Report (EPAR) after the European Commission has adopted its marketing authorisation decision.

For further information

International News

Rare genetic diseases and how international cooperation can change research

A review published in the journal of Nature Reviews - Drug Discovery discusses the current challenges faced by the research in rare diseases and the development of new therapies.

The authors enhance the findings made over the past 5 years in genetics and the possible ways to increase diagnosis and treatment of rare genetic diseases. The review emphasises that to achieve more available treatments, international cooperation is needed to improve therapy development on a global scale, as demonstrated by the International Rare Diseases Research Consortium (IRDiRC) which has a partnership with almost 50 organisations and a 10 year goal (2017-2027) to provide ‘an accurate diagnosis, care, and available therapy within one year of coming to medical attention’.

The authors highlight the difficulty associated with obtaining a precise diagnosis due to the involvement of many genes causing more than one rare diseases and their variable expressivity. However, the review emphasis that there is a need to change the way drug development is set to achieve a more successful diagnosis, and that alternative approaches to orphan drug cost are needed to balance the goal of patients and companies towards financial sustainability of rare disease therapies.

Guidelines to settle biopharmaceutical industry and patient advocacy organisations partnership challenges

A study published in the Orphanet Journal of Rare Diseases focuses on the development of specific guidelines by an independent expert panel compared of patient advocacy organisations and biopharmaceutical industries leaders, highlighting ways to ensure an effective collaboration between them and addressing ethical and legal issues that may arise in the entire research and medical development.

The authors' challenge is to add transparency to these types of collaborations in the contexts of drug development for rare diseases, thus enabling them to overcome the complexity of their partnership, and to provide therapeutics with meaningful input for patients. The study shows that those guidelines are crucial to facilitate the cooperative work between the two stakeholders.

A predictive mathematical model for variable and incomplete biological data

An article published in Systems Biology and Applications addresses how analysing data using “flexible nets” can circumvent the challenges associated with modelling biological systems that have incomplete or variable data. According to the authors, the use of flexible nets allows the integration of “heterogeneous data into a single model and can cope with missing or varying information”, to thus produce a predictive model of a biological system. The authors first tested the efficacy of flexible nets by employing it on a well-studied system – glucose metabolism in yeast, and then investigated an important query regarding the treatment of Wilson disease.

They analysed whether copper accumulation, which leads to the creation of hydroxyl radicals, led to liver inflammation in Wilson disease patients. The modelling exercise led them to conclude that the cause of inflammation could be due to other indirect routes, in addition to copper accumulation. They were also able to suggest a non-invasive mode of intervention to reduce copper accumulation in the liver, the efficacy of which was confirmed by the use of flexible nets computational modelling.

Read the Open Access article

PhenoDis database kick-off especially for rare cardiac disease

A study published in the Orphanet Journal of Rare Diseases presents PhenoDis a developed comprehensive database for rare cardiac diseases. The database uses a set of specific descriptors to analyse the characterisation of rare cardiac diseases to differentiate them based on additional biomedical information and symptoms.

The PhenoDis database has 308 rare cardiac diseases symptomatic annotations from literature and matches matching symptom terms in Human Phenotype Ontology (HPO). The database provides a homogeneous annotations for every individual disease that leads to different diagnostic approaches. PhenoDis is following the example of the two largest rare disease databases: Online Mendelian Inheritance in Man (OMIM) and Orphanet to create a specific database to filter specific disease types such as rare cardiac diseases. The study shows that PhenoDis is complementary to OMIM and Orphanet due to its disease classification and to its database offering a greater number of symptom annotations compared to OMIM and Orphanet. The goal of PhenoDis is to provide precision medicine using HPO and by emphasising phenotypic description of diseases to give a precise diagnostic and further lead to identify disease causing gene variants.

Biomedical ontologies and ontology matching systems? What are the challenges?

A study published in the Journal of Biomedical Semantics demonstrates that the ‘hash-based’ searching paradigm tool used in ontology matching systems is very useful when matching large size biomedical ontologies. The authors show that it is critical to establish links between multiple ontologies to ensure biomedical knowledge and interoperability. The study also used the AgreementMarkerLight (AML) as a platform to perform its tests. Although, biomedical ontologies have a very rich and diverse vocabulary which add some complexity to the matching. It is important to acknowledge that biomedical domains can have different annotations which involve a label-to-label mapping over mappings to help the system link similar words together (synonyms…), and that this technique means that it can enable matching ontology systems to find the right mapping to match those multiple biomedical ontologies.

The authors highlight the use of the Ontology Matching Evaluation Initiative (OAEI) to evaluate ‘ontology matching at the system level, assessing the contributions of the various existing strategies’. The results show that ‘challenges must be addressed by combining efficient strategies into a mature matching approach’.

Building biobanks that can change the course of intractable diseases

A study published in the Journal of Translational Science examined the trends in rare disease research, rare diseases are known as “intractable disease INAMBYO definition” in Japan. This includes around 330 rare diseases. The authors surveyed the need to support more efficient biobanks that collect rare intractable diseases biosamples and information to improve research. The authors used PubMed, Orphanet, KEGG disease, the National Organization for Rare Disorders and other tools to analyse the most used types of biosamples for research (1954-2017) in Japan for rare intractable diseases.

They showed that six types of samples have been highly used for researching intractable diseases: cell, tissue, serum, DNA, RNA and plasma. According to the authors, the results of this study can be useful to discuss the types of samples that biobanks could/should collect that would be useful for research. The authors also believe that this data provides information to pharmaceutical companies and medical researchers to develop novel therapies for these diseases. They intend to expand this study to the rare diseases in the Orphanet nomenclature.

What is the difference between rare and chronic disease experience of normality?

A qualitative study published in the European Journal of Pediatrics analyses the experiences of mothers with children suffering from a chronic disease 'Celiac Disease' (CD) and a rare disease 'Bartter Syndrome' (BS). The study shows the conceiving different aspects of life challenges concerning the disease and how the patient and its family cope with delayed diagnosis, hospitalisations, medical controls, treatment, symptoms that impact them socially and physically.

Although the delivery of a diagnosis was perceived as a relief by all, the strategies that facilitated disease management and acceptance among mothers living with CD were seen as stressors for mothers living with BS. Due to the rarity of the condition, mothers living with BS had considerable difficulty accessing reliable information and social support, which was not the case for mothers living with CD.

Mothers living with CD openly named the disease and symptoms, while mothers living with BS provided an “oversimplified description of main disease symptoms.” Both groups described challenges associated with taking the child outside, but an additional level of complexity was revealed by mothers living with BS inside the home as “complex every-day treatments and medical decision-making constituted an additional factor challenging the normal family life.

The authors conclude that mothers with children suffering from rare diseases might need more support to overcome the complexity of their disease to regain some normalcy in their everyday life.

Editorial
Political news
Scientific news
And also...

European News

International News

Bioinformatics

Data Management

Social Science

Summary of the edition of 23 February 2018

Editorial

Political news

Scientific news

And also...

Edition of 23 February 2018

European News

The orphan maintenance assessment reports to be published by the EMA after marketing authorisation

International News

Rare genetic diseases and how international cooperation can change research

Ethical Legal Social

Guidelines to settle biopharmaceutical industry and patient advocacy organisations partnership challenges

Bioinformatics

A predictive mathematical model for variable and incomplete biological data

PhenoDis database kick-off especially for rare cardiac disease

Biomedical ontologies and ontology matching systems? What are the challenges?

Data Management

Building biobanks that can change the course of intractable diseases

Social Science

What is the difference between rare and chronic disease experience of normality?

Summary of the edition of 23 February 2018

Editorial

Political news

Scientific news

And also...