PURA syndrome is a rare developmental disorder of the brain for which there is currently no cure. The patient association PURA Syndrome Germany was founded last year. Since then, the affected families have been collecting donations with great dedication – and have decided to donate the majority of this money to research into the syndrome at Ulm University.

Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However in the case of genetic variants the influence on the presentation of certain pathological traits has been difficult to determine. Researchers have introduced an algorithm based on deep learning that can predict the effects of rare genetic variants.

Researchers at University of Galway, the Heidelberg Institute for Theoretical Studies (HITS) Heidelberg University, and Heidelberg University Hospital have created digital babies to better understand infants’ health in their critical first 180 days of life. The international team created computer models that simulate the unique metabolic processes of each baby. The models can help to better understand rare metabolic diseases.

How can we use artificial intelligence (AI) to make comprehensible medical decisions? A new project at the University of Mannheim, which has received funding from the Federal Ministry of Education and Research (BMBF), will analyze this question.

Heidelberg Pharma AG (FSE: HPHA), a clinical stage biotech company developing innovative Antibody Drug Conjugates (ADCs), is pleased to announce that the US Food and Drug Administration (FDA) has granted Orphan Drug Designation (ODD) for the treatment of multiple myeloma to its lead candidate HDP-101. Heidelberg Pharma is investigating the candidate in a clinical Phase I/IIa study for the treatment of relapsed/refractory multiple myeloma (RRMM).

The progression of multiple sclerosis (MS) can usually be slowed down with medication, but a cure is currently not possible. It is now established that Epstein-Barr viruses are involved in the development of MS. However, it is not known how the pathogens trigger the disease. The European Union is now funding the international research consortium BEHIND-MS as part of its HORIZON Europe program.

Screening trials for the early detection of rare diseases often fail due to insufficient predictive power of the results. For the rare HPV-related cancer of the pharynx, scientists from the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) now relied on the combined detection of antibodies against two different viral proteins in a proof-of concept trial.

Induced pluripotent stem cells (iPSC) are suitable for discovering the genes that underly complex and also rare genetic diseases. Scientists from the German Cancer Research Center (DKFZ) and the European Molecular Biology Laboratory (EMBL), together with international partners, have studied genotype-phenotype relationships in iPSCs using data from approximately one thousand donors.

Development of the genomDE genome database - 04/12/2020

Whole genome sequencing for diagnosing rare diseases

Grouped together, rare diseases are by no means a rare phenomenon; however, they are rarely correctly diagnosed and rarely properly treated. In most cases, there is no effective medication available. Rare disease centres staffed by experts have been set up in many German cities to speed up the often long and painful search for the right diagnosis and treatment. Whole genome sequencing is a component of general healthcare, used to identify…

Expert interview on NTDs – part 3 - 24/09/2019

Neglected tropical diseases – Franz-Werner Haas: the role of technology and pharmaceutical companies

Neglected tropical diseases (NTDs) are poverty-related infectious diseases that suffer from scant attention in terms of research or control. NTDs exist in the shadow of the "big three": malaria, tuberculosis and HIV/AIDS. They affect many people living in poverty in the emerging and developing countries of the tropics and subtropics. Active control can only be achieved when people with NTDs are treated effectively and given information…

Expert interview on NTDs – part 2 - 29/05/2019

Neglected tropical diseases - Gisela Schneider: the burden of disease

"Leaving no one behind". The motto of the 2030 Agenda with its 17 Sustainable Development Goals (SDGs) which was signed by the United Nations (UN) in 2015 makes clear that combatting poverty and its consequences is an essential part of sustainable development. The fight against neglected tropical diseases (NTDs) is defined as a major aim of the Agenda’s sustainable development goals. The World Health Organisation (WHO) regards twenty…

Expert interview - 13/05/2019

Innovation management in the life sciences – Inova DE provides insights

Personalized medicine, medical technology, digital health and artificial intelligence are revolutionizing diagnostics and product development. Analyses are becoming faster and more precise, and data volumes can now be networked and used effectively. The goal of improving people's quality of life is within reach, and this will also strengthen Germany’s future viability. However, not every good idea can be turned into a marketable commodity.…

Expert interview on NTDs – part 1 - 11/04/2019

Neglected tropical diseases – Carsten Köhler: impulses from Baden-Württemberg

More than one billion people worldwide suffer from neglected tropical diseases (NTDs). NTDs are mostly poverty-related infectious diseases that prevail in tropical countries due to lack of research and measures to detect, prevent and control them. Dr. Dr. Carsten Köhler reports on the political, economic and scientific contributions Germany and Baden-Württemberg can make to successfully change this situation.