Genetic exploration of rare diseases: from identification of causes to personalized therapies
<p>Historically, identifying the genetic causes of rare diseases has been a daunting task, with many conditions remaining undiagnosed and without effective treatments. However, recent advances in genetics and genomics have revolutionized the field, providing new tools and approaches for uncovering the genetic underpinnings of these disorders.</p>
<p>Traditional genetic diagnostic methods, such as karyotyping and Southern blotting, were initially limited in their ability to detect the subtle genetic changes that underlie many rare diseases. However, the advent of next-generation sequencing (NGS) technologies has opened up a new era of genetic discovery, enabling researchers to sequence entire genomes or specific regions of interest with unprecedented speed and accuracy.</p>
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