The lab: Jordanova group
Lab's research themes:
We focus on the identification and characterization of genes and pathways implicated in the molecular etiology of inherited neuromuscular disorders, like motor and sensory peripheral neuropathies and spastic paraplegias. In this way, we aim to understand the molecular pathomechanisms and design strategies for prevention and treatment of these devastating diseases. The research strategy is not limited to one experimental approach, but starts with genetic studies in unique collections of patients and extends to model systems, like Drosophila, yeast or human cells.
The main research projects are:
Identification of novel causative genes for inherited forms of peripheral neuropathies and spastic paraplegias using family and population based genetic approaches;
Neurogenetics studies in the Roma/Gypsy population;
Unraveling the role of aminoacyl-tRNA synthetases in degeneration of peripheral nerves;
Unraveling the role of HINT1 in the etiology of peripheral neuropathies associated with neuromyotonia
Merits of the lab:
Our lab is recognized for its leadership in genetic research on neurodegenerative diseases, particularly in the identification of novel genes and mutations linked to peripheral neuropathies. We employ a multidisciplinary approach, integrating genetics, molecular biology, and bioinformatics to unravel the complexities of neurological disorders. Our ability to translate basic genetic discoveries into clinical applications has positioned us at the forefront of neurogenetic research. By collaborating with clinical geneticists, neurologists, and international research consortia, we ensure that our findings have direct implications for improving diagnostics and treatments for patients worldwide.
Why do we train medical doctors in our team?
Training medical doctors in our team is crucial for advancing personalized medicine in neurogenetic disorders. Medical doctors bring essential clinical insights into the genetic underpinnings of neurodegenerative diseases, which helps guide our research towards practical, patient-centered solutions. By involving them in our lab, we provide opportunities for hands-on experience in genetic research, allowing them to better integrate cutting-edge genetic knowledge into their clinical practice. This partnership enhances our ability to develop effective diagnostics and therapeutic strategies that are directly informed by the needs of patients with neurological disorders.
The position
Meet Luiza!
Biosketch
Luiza is Brazilian, born in the beautiful city of Rio de Janeiro. After graduating as a medical doctor, Luiza pursued specialization training in the Medical Genetics residency program at FIOCRUZ. Subsequently, she started working as a medical geneticist both as a consulting physician at a tertiary referral hospital and at Mendelics Genomic Analysis, a clinical diagnostic laboratory specializing in next-generation sequencing. During five years she worked there analyzing exome sequencing of individuals with rare diseases. At Mendelics, she conducted some studies in parallel to her main activity there, trying to find potentially pathogenic variants in genes that were not yet associated with a phenotype. This allowed her to collaborate on multiple published papers describing new genes associated with rare genetic diseases and triggered the wish to be trained in Science. In 2022 she earned an EMERALD PhD fellowship for Medical Doctors, to pursue a doctoral degree at the University of Antwerp, at Jordanova’s Lab. Luiza hopes to gain knowledge and experience in gene discovery studies and be able to help patients with rare genetic diseases, especially those without access to Global North’s mainstream gene discovery route.
University awarding the PhD
Luiza is enrolled at the University of Antwerp.
I decided to become a physician because…
As a physician, I can combine empathy and curiosity in my practice. This is especially true in medical genetics in which patients often undergo an odyssey to find a diagnosis and searching for answers improves patient’s lives.
But also, I wanted to become a scientist because…
I am driven by curiosity. As a scientist, I can go beyond standard clinical practice to investigate rare genetic disorders. At the same time, unravelling the genetic cause of rare diseases frequently unravels new biological insights and fills knowledge gaps.
What I am working on?
In my PhD project, I aim to unravel the genetic causes of Charcot-Marie-Tooth neuropathies (CMT), a clinically and genetically heterogeneous group of conditions, being the most frequent cause of monogenic neuromuscular diseases, affecting 9.7-82.3/100,000 individuals worldwide. CMT is characterized by a length-dependent degeneration of motor and sensory peripheral neurons that leads to distal muscle weakness and wasting, sensory loss, bone deformities, and severe disabilities. Consequently, the disease substantially disables patients early in life, generating a huge burden on them and the healthcare system. In addition, CMT is a genetically heterogeneous disorder, with >90 causal genes reported so far, but explaining less than 65% of cases. I will apply different “omics” technologies (genomics, transcriptomics, functional genomics) to study affected individuals and reconstruct the molecular architecture underlying Charcot-Marie-Tooth disease. The knowledge gained in this project will be relevant not only to CMT but will potentially make a larger contribution in the understanding and treatment of other inherited or acquired neurodegenerative disorders.
Why is this important to me as a medical doctor?
As a Medical Genetics specialist, my clinical practice is always at the frontier with scientific discovery. Patients with rare genetic diseases face a diagnostic odyssey and after a diagnosis is made, their conditions usually lack specific treatment. By the end of my project I believe I will be better equipped to fill the knowledge gap regarding the rare diseases that affect my patients.
Who am I besides a future physician-scientist?
I am an introvert who loves people. While it is very likely that I will avoid parties or feel drained after meetings and big gatherings, unexpectedly, I am willing to engage in deep conversations with anyone. I believe that is why I enjoy doing medical consultations so much. I also advocate for a kinder world and stand up against injustice – I try to live by the rule of doing to others what you would like them to do to you. My hobbies are a reflection of my introverted nature – writing poetry, cooking and experimenting with new recipes, playing videogames, and watching series with my partner. I am very open-minded and enjoy learning about different cultures either traveling, tasting different food, or connecting with others. This is reflected in my very eclectic music taste such as classical operas, Brazilian funk, tango, metal, afro beats, Celtic, folk, middle-eastern, and samba.
