by Marisa D. Silva
Research
Over the years, I have participated in several projects in Human Genetics and its role in Health. These include:
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Genetic changes that affect brain disease severity in children with sickle cell anemia
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Molecular investigations in hemoglobin diseases
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Chromosomal changes in malformed fetuses
From Stress to Sick(le) and Back Again-Oxidative/Antioxidant Mechanisms, Genetic Modulation, and Cerebrovascular Disease in Children with Sickle Cell Anemia
Silva M. & Faustino P. 2023
An extensive review on how oxidative stress in sickle cell anemia affects the blood vessels of the brain in children. The risk of stroke, silent infarcts, and overall vessel disease (vasculopathy) are discussed, namely how they can be higher or lower depending on the presence of certain genetic variants.
VCAM1, HMOX1 and NOS3 differential endothelial expression may impact sickle cell anemia vasculopathy
Silva et al,, 2022
Sickle cell anemia (SCA) causes blood vessel changes that lead to organ disease, one of the more severe affects the brain. This work describes how genetic variants (other than the sickle cell mutation) are reflected by the cells that line blood vessels. The results show that they lead blood vessels from different sizes and organs to behave differently, and that this may explain the how organ damage occurs in patients with SCA.
Biomarkers and genetic modulators of cerebral vasculopathy in sub-Saharan ancestry children with sickle cell anemia
Silva et al, 2021
An extensive work in a group of children with sickle cell anemia (SCA), to assess which laboratory parameters or genetic variants (other than the scikle cell mutation) could be used as markers for increased or decreased risk of blood vessel disease. We found that LDH and variants in the VCAM1, NOS3, ENPP1 genes can affect that risk.