05012025
Last update: 04/29/2025 9:04

New targets and orphan drugs for rare diseases

Scientists at the Centro de Investigaciones Biológicas (CIB) of the CSIC work to find out the genetic diagnosis of rare diseases related to vascular disorders and tumors, as well as to find new therapies. Their research has focused mainly on the HHT disease and the Von Hippel-Lindau syndrome, and they have found out three orphan molecules for treating the HHT disease and one for the treatment of VHL.

Artificial intelligence for the diagnosis of rare diseases related to collagen VI

Researchers at the Institute of Robotics and Industrial Informatics -a joint center of the CSIC and the Polytechnic University of Catalonia-, and at the Sant Joan de Déu Hospital in Barcelona, have developed a system for helping in the diagnoses of rare diseases related to deficiencies in the structure of collagen VI.

Peptides effective for inhibiting cholesterol aggregation in the vascular wall

A work demonstrates that peptides derived from a LRP1 receptor sequence are very effective inhibiting the aggregation of LDL (low density lipoprotein, also called 'bad' cholesterol) that takes place in the vascular wall during development of atherosclerosis. Only the introduction is translated

A metabolite from a drug against diabetes, a possible treatment for neurodegenerative diseases

MIN-102, a metabolite from a drug against diabetes, could be useful for treating some neurodegenerative diseases, as scientists think. To confirm this hypothesis, a project has been launched with the involvement of the CSIC’s Instituto de Investigaciones Biomédicas de Barcelona, the Hospital Universitari 'Sant Joan de Déu' and the University of Lleida. The research project is led by the company Mynorix Therapeutics.

Fagomine, effective in long term prevention of type 2 diabetes risk factors

Researchers from the Institute of Advanced Chemistry of Catalonia CSIC study the beneficial effects of natural compounds in food. According to the conclusions of a recent study, fagomine, a natural molecule, counteracts the effects of a high-fat diet.

Obtained a synthetic single molecule which inhibits the anticoagulant heparin

Scientists at the IQAC-CSIC have obtained a synthetic single molecule which inhibits heparin, the most used anticoagulant drug nowadays. The development has been possible by dynamic combinatorial chemistry. Dynamic chemistry makes possible quickly discovering active molecules and drugs.

Scientists study the role of a protein in the non-alcoholic fatty liver disease

Scientists at the Institut d'Investigacions Biomèdiques (CSIC-IDIBAPS) and at the Institut de Química Avançada de Catalunya, of the CSIC, have been awarded one of the 6 grants of the BBVA Foundation for biomedical research. The scientists will study the implication of a protein in Nonalcoholic fatty liver disease, which is involved in obesity related diseases.

Low cost technology for the early diagnosis of cystinuria

Scientists at the Instituto de Química Avanzada de Catalunya of the CSIC have developed a technology for the precise and early diagnosis of cystinuria disease, through urine testing. It is based on molecular networks to produce a measurable signal when some substances are linked to a specific molecule.

New materials for brain repair and neuronal regeneration

MAGBBRIS, a recently approved European project, which counts on the ICMAB-CSIC participation, will develop magnetic nano-biomaterials for brain repair and to obtaining images after a stroke. Another project led by the ICMAB-CSIC will develop new electroactive materials for neuronal regeneration.