Concept

Rare disease

Related publications (14)

Predicting the Occurrence of Variants in RAG1 and RAG2

Jacques Fellay, Flavia Aurelia Shoko Hodel, Dylan Lawless

While widespread genome sequencing ushers in a new era of preventive medicine, the tools for predictive genomics are still lacking. Time and resource limitations mean that human diseases remain uncharacterized because of an inability to predict clinically ...

2019

Sting inhibitors

Andrea Ablasser, Luc Reymond, Simone Margret Haag

The present invention relates to compounds, compositions for use and methods for the treatment of a STING associated disease, condition, or disorder. ...

2019

Sting inhibitors

Andrea Ablasser, Luc Reymond, Simone Margret Haag

The present invention relates to compounds, compositions for use and methods for the treatment of a STING associated disease, condition, or disorder. ...

2019

Sting inhibitors

Andrea Ablasser, Luc Reymond, Simone Margret Haag

The present invention relates to compounds, compositions for use and methods for the treatment of a STING associated disease, condition, or disorder. ...

2019

A field-based modelling framework of the ecohydrology of schistosomiasis

Francisco Javier Perez Saez

Successful control of schistosomiasis, a water-borne parasitic disease, is challenged by the intricacy of the wormâ s lifecycle, which depends on aquatic snail intermediate hosts, and involves environmental, ecologic, and socio-economic factors. Current s ...

EPFL2018

Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: Converging roads to therapeutic development

Bernard Schneider

Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS) are the two most common motoneuron disorders, which share typical pathological hallmarks while remaining genetically distinct. Indeed, SMA is caused by deletions or mutations in the surv ...

ELSEVIER SCIENCE BV2018

AAV based gene therapy for rare diseases : targeting astrocytes for functional recovery in Amyotrophic Lateral Sclerosis

Cylia Cloé Rochat

Of the seven thousand diseases that are described as rare, 80% of them have an identified genetic cause. With this in the mind, the development of technologies, such as gene therapy, to address the genetic factors involved in these pathologies, might be a ...

EPFL2017

Method for quantitative measurement of a biomarker by in situ immunofluorescence and uses thereof

Martinus Adela Maria Gijs, Ata Tuna Ciftlik, Diego Gabriel Dupouy

The invention relates to a method for quantitative measurement of a biomarker by in situ immunofluorescence and uses thereof. In particular, the invention relates to a method which is a useful tool for use in the field of diagnosis, prevention and/or treat ...

2017

Miniaturized single-cell analyses for biomedical applications

Loïc Arvind Roger Arm

Numerous diseases affecting living beings have as a cause a modification of gene expression resulting in anomalous expression of proteins in up- or down-regulated fashion, with altered functions or expression of proteins that are not present in the cell in ...

EPFL2017

Review of the role played by the photosensitizer's photobleaching during photodynamic therapy

Georges Wagnières, Matthieu Philippe Emmanuel Zellweger

Photodynamic therapy (PDT) is based on the combined administration of photosensitizing drugs and light to treat a variety of malignant, pre-malignant and also non-malignant diseases. The reactive species resulting from the excitation of the photosensitizer ...

Natl Inst Optoelectronics2016

Towards brain-on-a-chip : microfluidic and microelectrode array platforms for morphological and electrophysiological observations on the propagation of Alzheimer's disease

Yufei Ren

Since the first compartmentalized neuronal culture described by Robert B. Campenot in 1977, compartmentalized microfluidic devices have been widely used to engineer the cellular environment for cell culture. In previous research by Dr. Anja Kunze, a microf ...

EPFL2016

Cognitive Enhancers (Nootropics). Part 3: Drugs Interacting with Targets other than Receptors or Enzymes. Disease-modifying Drugs

Andrea Pfeifer

Cognitive enhancers (nootropics) are drugs to treat cognition deficits in patients suffering from Alzheimer's disease, schizophrenia, stroke, attention deficit hyperactivity disorder, or aging. Cognition refers to a capacity for information processing, app ...

Ios Press2013

A century-old debate on protein aggregation and neurodegeneration enters the clinic

Hilal Lashuel

The correlation between neurodegenerative disease and protein aggregation in the brain has long been recognized, but a causal relationship has not been unequivocally established, in part because a discrete pathogenic aggregate has not been identified. The ...

2006

Recombinant proteins for neurodegenerative diseases: the delivery issue

Patrick Aebischer

Tackling neurodegenerative diseases represents a formidable challenge for our ageing society. Recently, major achievements have been made in understanding the molecular mechanisms responsible for such diseases, and, simultaneously, numerous proteins such a ...

2001