A5000826167- Inflammatory Bowel Disease
- Immunodeficiency and Autoimmune Disorders
- Transplantation: Methods and Outcomes
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Microbial Metabolic Engineering and Bioproduction
- Metabolism and Genetic Disorders
- Bioinformatics and Genomic Networks
- Metabolomics and Mass Spectrometry Studies
- High Altitude and Hypoxia
- Innovative Microfluidic and Catalytic Techniques Innovation
- Biosensors and Analytical Detection
- Microfluidic and Capillary Electrophoresis Applications
- Digestive system and related health
- Organ Transplantation Techniques and Outcomes
- Renal Transplantation Outcomes and Treatments
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Hydrogen's biological and therapeutic effects
- Pneumocystis jirovecii pneumonia detection and treatment
- Microscopic Colitis
- Obstructive Sleep Apnea Research
- Gut microbiota and health
- Gene Regulatory Network Analysis
- Celiac Disease Research and Management
- Mycobacterium research and diagnosis
University of Pittsburgh
2024
ETH Zurich
2018-2023
SIB Swiss Institute of Bioinformatics
2018-2023
University of Pennsylvania
2021
Life Science Zurich
2018
IBM Research - Zurich
2017
Abstract Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis 3.5 years), whom no disorders were clinically suspected. In five detect primary immunodeficiency or enteropathy, clinical consequences ( XIAP, CYBA, SH2D1A, PCSK1 ). We also present case study VEO-IBD patient mosaic de novo, pathogenic allele...
Abstract Metabolic phenotypes are pivotal for many areas, but disentangling how evolutionary history and environmental adaptation shape these is an open problem. Especially microbes, which metabolically diverse often interact in complex communities, few can be determined directly. Instead, potential commonly inferred from genomic information, rarely were model-predicted employed beyond the species level. Here, we propose sensitivity correlations to quantify similarity of predicted metabolic...
Methylmalonyl-coenzyme A (CoA) mutase (MMUT)-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function MMUT enzyme. Patients develop symptoms resembling those primary mitochondrial disorders, but underlying causes dysfunction remain unclear. Here, we examined environmental and genetic interactions in deficiency using combination computational modeling cellular models to decipher pathways interacting with MMUT. Immortalized fibroblast (hTERT BJ5ta)...
The use of microfluidic technology represents a strong opportunity for providing sensitive, low-cost and rapid diagnosis at the point-of-care such might therefore support better, faster more efficient treatment patients home in healthcare settings both developed developing countries. In this work, we consider luminescence-based assays as an alternative to well-established fluorescence-based systems because luminescence does not require light source or expensive optical components is...
Abstract MMUT-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function methylmalonyl-CoA mutase (MMUT) enzyme. Patients develop symptoms resembling those primary mitochondrial disorders, but underlying causes dysfunction remain unclear. Here, we examined environmental and genetic interactions in MMUT deficiency using combination computational modeling cellular models to decipher pathways interacting with MMUT. Immortalized fibroblast (hTERT BJ5ta)...