Basilicata Lab

Vergrößern

Our team investigates the complex interplay between genetic alterations, cellular homeostasis, and biological sex in rare neurodevelopmental disorders. We employ multidisciplinary approaches to understand disease mechanisms and identify potential therapeutic and diagnostic strategies for conditions with no interventional protocols.

Research Projects

Vergrößern

1.) Plasticity and Resilience of developmental processes

Using human disease models, we study how seemingly unrelated genetic changes ultimately lead to similar developmental bottlenecks, often through adaptive mechanisms such as paralogue compensation and metabolic rewiring. We aim to develop treatments that target these shared effects rather than each individual genetic ‘entry point’.

2.) Chromatin Dysfunction in Neurodevelopmental disorders

Collectively 58 million people worldwide are diagnosed with rare neurodevelopmental disorders leading to intellectual disability and failure to thrive. The most enriched class of causative mutations are found in genes belonging to the chromatin machinery, exemplified by the Basilicata-Akhtar syndrome (MRXSBA). We explore how chromatin factors extend beyond their gene-regulating roles to affect processes outside the nucleus.

3.) The complex balance of the Sex Chromosomes in Development and Disease

We study how biological sex influences embryonic development and disease progression through both genetic and hormonal mechanisms. We aim to develop more personalized approaches to treating disorders that account for sex specific differences in pathophysiology.

Publications

https://orcid.org/0000-0002-1111-9459

Scientific Vita

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