Recent Developments in Preimplantation Genetic Testing and Embryo Selection
DOI: 10.29245/2690-0009/2025/2.1306 View / Download PdfSantiago Munné, PhD¹²³*, Jonathan Anomaly, PhD²
¹Progenesis, La Jolla, CA, USA
²Herasight, Morrisville, NC, USA
³Overture Life, Coral Gables, FL, USA
Genetic and Epigenetic Aspects Linked to The Etiology of Autism
Claudia L. Arberas
Honorary consultant of Sección Genética médica Hospital de niños Dr. R. Gutiérrez, Gallo 1330 - Buenos Aires – Argentina
Autism is a childhood-onset neurodevelopmental disorder characterized by high heritability, a complex genetic basis, and a wide range of phenotypic expressions. Its etiology is identified in a significant proportion of cases and may involve chromosomal abnormalities, pathogenic variations in several genes, or environmental factors. However, in many cases, the underlying causes remain unexplained, even after comprehensive genetic testing in accordance with ACMG (American College of Medical Genetics and Genomics) guidelines.
The complex phenotype of autism includes a "core triad" of symptoms—impaired social interaction, restricted and repetitive behaviors—often accompanied by additional conditions such as language impairments, intellectual disability, epilepsy, hyperactivity, anxiety, and various other comorbidities.
In this paper, I aim to explore the interplay between genetic, epigenetic, and environmental factors to better understand the potential pathogenic mechanisms underlying this disorder, which continues to show a rising global prevalence.
DOI: 10.29245/2690-0009/2025/1.1302 View / Download PdfRegulatory T Cells in Cancer Immunotherapy: From Tumor Microenvironment Dynamics to Bispecific Antibody Approaches
Meenakshi Tanwar1 and Muthukumaran Venkatachalapathy2
1Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, Maryland, USA
2Department of Pathology, Yale University, New Haven, CT, USA
Regulatory T (Treg) cells are crucial in maintaining immune homeostasis and preventing autoimmunity1. However, within the tumor microenvironment (TME), Tregs shift their role towards immune suppression. In cancer, the immune system develops resistance, contributing to a suppressive TME. The TME plays a vital role in tumorigenesis2, and tumor-infiltrating lymphocytes (TILs) are key components of this environment. These lymphocytes consist of various cell types, including natural killer (NK) cells, CD8+ cytotoxic T cells, CD4+ helper T cells and regulatory T cells. Various interactions and immune responses occur between tumor cells and neighboring cells through the circulatory and lymphatic systems. These interactions include the upregulation of immune checkpoint molecules, the secretion of immunosuppressive cytokines, and alterations in the metabolic environment of effector T cells, among other mechanisms. This facilitates the tumor cells to evade immune detection, escape the immune system, and promote tumor growth and survival. In recent years, immunotherapy has emerged as one of the most promising treatments for cancer, significantly transforming the therapeutic landscape of cancer care. By harnessing the power of the immune system, immunotherapies target and combats tumor cells. Regulatory T cells have become key targets in the development of new immunotherapeutic strategies due to their pivotal role in immune evasion of cancer cells3. In this review, we delve into the molecular characteristics and immunosuppressive mechanisms of Tregs in cancer, with a focus on key molecules CD25 (IL-2 receptor α chain) and TIGIT (T cell immunoreceptor with Ig and ITIM domains), which play significant roles in tumor immune evasion. We also discuss the potential of bispecific antibodies (BsAbs) as a therapeutic treatment for tumor by selectively targeting Tregs markers (CD25 and TIGIT) within the tumor microenvironment.
DOI: 10.29245/2690-0009/2025/1.1301 View / Download Pdf