Team MyoProteos (K.HNIA)

Zoubida KARIM (DR1 CNRS) brings expertise cellular and systemic iron dyshomeostasis in metabolic, inflammatory and genetic diseases, including lysosomal diseases. She has made significant contributions in elucidating the role of iron metabolism in many pathological contexts. She coordinated a research axis at Infinity-Toulouse on iron metabolism & hepcidin in chronic inflammatory diseases) and co-headed the HIROS team at the CRI in Paris (iron metabolism and heme biosynthesis in chronic diseases). Her expertise will extend MyoProteos research program and bring new area of expertise on the role of iron in organelle crosstalk and proteostasis but also on muscle-organ communication.

Career Path

Previous position: Research axis Leader (Infinity-Toulouse), Team Leader of HIROS (Heme-Iron in Oxidative Stress and Inflammation), UMR 1149 / ERL CNRS 8252, Université Paris Cité, postdoctoral fellowship, University of Zurich (2 years). HDR, Sorbonne University (formerly Paris Diderot University), PhD, Sorbonne University (formerly Pierre and Marie Curie University -UPMC).

Areas of Expertise

Integrative physiology, iron metabolism and transporters, heme biosynthesis, mechanisms of lysosomal diseases.

Hospital Practitioner (Paediatric Endocrinology, Genetics and Medical Gynaecology Department, Toulouse Hospital)

Dr Valérie PORQUET-BORDES is an endocrinologist at Toulouse Hospital (CHU). She works within the Pediatric Endocrinology, Genetics and Medical Gynaecology Department. She specializes in the management of children with endocrinological, genetic or gynecological conditions, as well as bone diseases and childhood obesity. She explores the genotype-phenotype relationship and the pathophysiology of metabolic diseases in children, particularly those related to bone fragility and the X-linked form of hypophosphataemia, with a particular interest in inter-organ communication (bone-muscle, liver…).

Career path 

Hospital Practitioner, Paediatric Endocrinology, Genetics and Medical Gynaecology Department, Toulouse Hospital.

Areas of expertise 

Diagnosis and follow-up of endocrinological, genetic and gynaecological diseases, as well as bone diseases and childhood obesity. Inter-organ metabolic communication and functional exploration.

Hospital Practitioner (Paediatric Neurology Department, Toulouse University Hospital)

Dr Claude Cances is a pediatric neurologist at Toulouse Hospital (CHU). He coordinates the reference centre for neuromuscular diseases in Occitanie and the Atlantic and Caribbean regions. He is an investigator in clinical trial and explores the genotype-phenotype relationship in neuromuscular diseases, particularly congenital myopathies involving defective organelles and Ca²⁺ homeostasis. His department is part of FILNEMUS: one of the 23 rare disease networks (FSMR) designated by the French Ministry of Health (4th National Rare Disease Plan).

Career path 

Hospital Practitioner, Paediatric Neurology Department, Toulouse Hospital.

Areas of expertise 

Diagnosis of neuromuscular diseases, clinical trial coordination and phenotype muscle exploration.

Hospital Practitioner (Department of Physical Medicine and Rehabilitation, Toulouse Hospital)

Dr. Tarek Khaled is a clinician in Physical Medicine and Rehabilitation (PMR) at Toulouse University Hospital. His clinical practice focuses on the comprehensive care of patients with complex disabilities resulting from musculoskeletal or neurological conditions (congenital, acquired, or trauma-related). He is also actively involved in the medical support of athletes and para-athletes, coordinating the development of customized assistive devices and recovery programs. His research interests lie at the intersection of muscle physiology and metabolic medicine. He investigates the systemic and tissue-level metabolic disruptions underlying muscle weakness and wasting in conditions associated with prolonged physical inactivity or trauma, with a focus on uncovering reliable predictive biomarkers that could improve early diagnosis and patient outcomes.

Career path

Hospital Practitioner, Department of Physical Medicine and Rehabilitation, Toulouse University Hospital.

Areas of Expertise 

Post-traumatic rehabilitation; management of muscle fragility through evidence-based protocols and adaptive technologies; inter-organ metabolic crosstalk; functional and physiological assessment.

PhD Student (ANR)

Career path

PhD Student

Elena ETCHEPARE explores the metabolic signals between organelles and the nucleus, as well as their impact on gene expression and epigenetic regulation. She uses biochemical and transcriptomic approaches (RNA-Seq, ChIP-Seq and ATAC-Seq) applied to models of normal and pathological muscle differentiation (centronuclear myopathy) to identify therapeutic targets.

Career path 

Master in Molecular and Cellular Biology, University of Toulouse (2025).

Areas of expertise 

Cell biology, molecular biology, biochemistry

Joint PhD Student (Erasmus+ Fellowship)

Salma Faouzi investigates the role of the mechanosensitive protein Piezo1 in the remodeling of cellular metabolism, with a particular focus on iron fluxes between organelles and the extracellular environment under conditions of physiological stress associated with neuromuscular and metabolic diseases. Her work relies on genetic and physiological approaches applied to animal models and mechanosensitive cells.

Career Path/Education

Erasmus+ Master’s degree in Health Sciences and Biotechnology (University of Toulouse & Hassan II University, Casablanca)

Areas of Expertise 

Cell & molecular biology, Iron biochemistry, Physiology

PhD, Engineer (Permanent Position), University of Toulouse

Chair of the Animal Ethics Committee n°122

Co-head of the Patho-Fe-Expertise Platform

Myriam Rouahi provides technological and strategic support to the team’s projects, with a particular focus on iron metabolism and preclinical protocols in rodent models. She develops novel non-invasive approaches to investigate cellular and systemic iron and its relationship with energy metabolism in pathologic models such as lysosomal storage diseases and metabolic diseases. She is actively involved in disseminating best practices and ethical guidelines at both the national and European levels, through training sessions and specific interventions.

Career Path

Research Engineer (Permanent Position), University of Toulouse

PhD in Biomedical Sciences and Engineering

University of Technology of Compiègne (UTC)

University Diploma in Animal Genetics

Areas of Expertise 

Animal ethics, Iron biochemistry, Cell & molecular biology, Physiology

Christophe Santiago provides essential technical support for the team’s research projects, as well as an indispensable contribution to the training and supervision of students. He is also an expert in the quantification of numerous biomarkers of organelle homeostasis, as well as in the analysis of systemic markers associated with chronic and genetic diseases.

Career Path

Senior Research Technician (Permanent Position), University of Toulouse

Areas of Expertise 

Biochemistry, Cell & molecular biology, Biomarker quantification

Safaa ANNAJI is completing her Master 2 internship within the team. Supervised by M. Vandromme and Elena ETCHEPARE, she is exploring epigenetic defects and their link with metabolism in cellular models of X-linked centronuclear myopathy.

Academic Background

Master Erasmus+, University of Toulouse – University Hassan-II of Casablanca.

Areas of Expertise

Cell and molecular biology, epigenetic marks and transcriptomics.

Raouia ESSABBARI is completing her Master 2 internship under the supervision of Zoubida Karim and Myriam Rouahi. She is exploring defects in signalling pathways involved in the rare lysosomal disease MPSIIIB (Sanfilippo disease).

Diya Elizabeth Prince is completing an internship as part of her Master’s degree under the supervision of Karim HNIA. She is exploring new tools for detecting phosphoinositides in muscle cells and their involvement in myopathy/muscle atrophy.

Academic Background 

Master’s degree at the National Institute of Science Education and Research/NISER, Odisha, India.

Areas of Expertise 

Cell and molecular biology, protein production, phosphoinositide metabolism.