Maria L. Seixas is a medical student and research intern at the Center for Genomic Medicine – Massachusetts General Hospital, Harvard Medical School. Born in Brazil, she was among the top 0.05% of 45,000 applicants selected for the prestigious Líderes – Fundação Estudar scholarship, part of the largest leadership program in the country, that brought her to Dr. Patricia Musolino’s lab, where she now conducts research on the investigation of plasma biomarkers and brain imaging for early cerebral adrenoleukodystrophy detection. At her university in Brazil, she established the first business-academic partnership in medical research and now dreams of transforming the lives of patients with (c)ALD through translational medicine.
Main Area of Research: Despite the availability of hematopoietic stem-cell transplantation and gene therapy (GT), fewer than 20% of boys with cerebral adrenoleukodystrophy (cALD) receive treatment because diagnosis still depends on MRI lesion detection, which requires repeated anesthesia and risks missing optimal therapeutic windows. Microvascular dysfunction on perfusion MRI precedes blood–brain barrier (BBB) disruption, highlighting the potential of circulating vascular biomarkers for earlier detection. In this study, we integrate perfusion MRI parameters with angiogenesis and neurodegeneration markers across one of the world’s largest pediatric ALD cohorts with the aim of finding and establishing vascular plasma biomarkers as non-invasive tools to identify early cALD, stratify disease risk, and monitor therapeutic response.