Case Studies

Understanding SMN1/SMN2 genetics, inheritance risks, and the vital role of prenatal screening in autosomal recessive conditions. Precision Diagnostics in SMA: Assessing Recurrence and Ensuring Healthy Outcomes Spinal Muscular Atrophy (SMA) is a leading genetic cause of infant mortality — characterised by the loss of motor neurons due to mutations in the SMN1 gene. This case…

Investigating how heterochromatin variations and meiotic errors impact ART success and embryo viability. Uncovering the Genetic Barriers to Successful Implantation While heterochromatin is a standard component of the human genome, structural variations, known as polymorphic variants — are increasingly linked to reproductive challenges. This case study explores the journey of a couple facing six years…