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Mendelian Susceptibility to Mycobacterial Diseases (MSMD) is a primary immunodeficiency characterized by severe disease caused by weakly virulent mycobacteria, such BCG vaccines and environmental mycobacteria, in otherwise healthy patients. Patients with MSMD are also vulnerable to tuberculosis. Oth

Gestational diabetes mellitus (GDM) is a form of diabetes that is first diagnosed during pregnancy and poses an important risk factor to the subsequent health of the mother and her developing child. After delivery, a history of GDM is associated with increased risk of subsequent early onset type 2 d

Cochlear implants CI are electronic devices that provide partial hearing to individuals who are profoundly deaf or severely hard-of-hearing. They substitute the damaged receptors of the cochlea, transducing sounds from the environment into electrical impulses for the brain. Thirthy-one years after

Mitral valve prolapse (MVP) is a common cardiac valve disease. It can manifest as mitral regurgitation and is the leading indication for mitral valve surgery. Despite a clear heritable component, the genetic etiology leading to non-syndromic MVP has remained elusive. Autosomal dominant familial MVP

Pulmonary Arterial Hypertension (PAH) is a frequently lethal condition without cure. The current therapies remain essentially palliative and do not reverse the progressive pulmonary vascular obstruction leading to right ventricular heart failure. Therefore, new therapies are urgently needed for this

Cortical malformations are the most frequent causes of drug-resistant childhood epilepsies carrying a lifelong perspective of disability and reduced quality of life. Treatment options for pediatric epilepsies include antiepileptic drugs and surgical removal of epileptogenic brain tissue. However, up

Despite major therapeutic advances, the worsening heart failure (HF) epidemic and the associated healthcare costs represent a major burden to public health and the healthcare system. This is notably related to the lack of pharmacological strategies targeting the development of pulmonary hypertension

In Human, the fate of drugs in the body is estimated thanks to clinical pharmacokinetics (PK) through the determination of its concentrations in plasma. Clinically relevant gender and age-related differences in drug PK have been described, although the molecular determinants for such a variability r

Type I interferons (IFNs) have long been recognised as key immune mediators, in particular in anti-viral defence. Due to their potent and broad effect the IFN response operates along a spectrum, and must be balanced between protection against infection versus risk of inflammatory disease and immunop

The development of targeted therapies in the field of cancer is currently a priority for several pharmaceutical companies and especially in the field of pancreatic cancer. This type of cancer is one that has the lowest survival rate (5% at 5 years) and whose mortality rate is increasing. It is the 4

Neuroendocrine tumors (NET) is a heterogeneous group of neoplasms arising from hormone/peptide-secreting cells from the gastrointestinal and bronchopulmonary systems, breast, skin, and central nervous system. Today NET currently lack adequate diagnostic tests and targeted therapies either than surge

Infection by the Chikungunya virus (CHIKV) has reached pandemic levels owing to the spread of its vectors, Aedes aegypti and Aedes albopoctus. It’s accompanied by a high morbidity, with half of the infected patients being incapacitated in the long run. In its acute form, CHIKV causes Chikungunya fev

According to the World Health Organization, cardiovascular diseases are the leading cause of death worldwide, with the majority due to coronary heart diseases. It is expected that by 2030, almost 23.6 million people will die from coronary heart diseases. Understanding the underlying mechanisms thus

Tuberculosis (TB) is a contagious infectious disease that remains a major public health threat. Its etiologic agent is Mycobacterium tuberculosis (Mtb). The World Health Organization (WHO) reported that 9.6 million people developed TB in 2014 in different regions of the world including Europe. Furth

The SEDUCE proposal aims at establishing an innovative approach to identify new therapeutic molecules for alternate-splicing related diseases and to develop new screening tools for drug discovery approaches driven by academia and industry. Pre-mRNA splicing is a fundamental process in mammalian ge

Translational investigation of the pathophysiological role of intestinal barrier dysfunction and microbiota in juvenile idiopathic arthritis Juvenile idiopathic arthritis (JIA) is the most common childhood-onset chronic rheumatic disease. The cause of JIA remains unknown. A growing number of evid

In developed countries, retinal degenerative diseases affecting Retinal Pigmented Epithelium (RPE), including Aged-Macular Dystrophy (AMD) and inherited retinal diseases such Retinitis Pigmentosa (RP), are the predominant causes of human blindness worldwide and are responsible for more than 1.5 mill

End-stage vital organ failure is a life-threatening condition and the leading cause of premature death worldwide. The economic burden of vital organ failure is currently estimated at 25% of total health expenditures, in rapid expansion. Patients with end-stage vital organ failure depend on solid or

Steroid-sensitive nephrotic syndrome (SSNS) is a rare, mostly childhood kidney disease defined by selective proteinuria, hypoalbuminaemia and minimal histological changes without Ig deposits. It has been postulated that SSNS is immune mediated and involves T-cell dysregulation. Association studies w

Lyme borreliosis is the first vector-borne disease in the Northern Hemisphere. It is a bacterial infection transmitted by a hard tick, Ixodes. In the physiopathology of the disease, the skin is an essential interface since there, the tick inoculates the bacterium, Borrelia, which multiplies locally

Members of the HER family (EGFR/EGFR, HER2, HER3, HER4) of receptor tyrosine kinases are key targets for cancer therapy. They are expressed in pancreatic cancers which remain an unmet medical need. Due to cross-talk in HER signaling, we and others proposed to combine monoclonal antibodies (MAb) dire

Left ventricle hypertrophy (LVH) is an adaptive response of the heart to an increase workload. At the beginning, LVH is beneficial to maintain cardiac output by reducing wall stress, but it becomes maladaptive in the chronic phase, resulting in heart failure (HF). HF remains a deadly syndrome with 5

During embryo development, looping of the heart tube is the first morphological sign of left-right asymmetry. It is required for the alignment of cardiac chambers and thus the plumbing of the blood flow. Whereas the molecular cascade initiating left-right patterning has been well characterised in th