February 29 is a rare date that occurs only once every four years, and because of its uniqueness, it has been recognized as Rare Disease Day. This day aims to raise awareness and encourage public and governmental support for people living with rare diseases. Although these conditions are uncommon individually, collectively they affect millions worldwide. Today, scientists are increasingly turning to advanced technologies to better understand and treat these conditions. Pacific Biosciences has played a key role in this effort, as many of their customers have used SMRT sequencing to uncover critical insights into the genetic causes and progression of rare diseases.
James Lupski, a professor at Baylor College of Medicine and a patient with Charcot-Marie-Tooth neuropathy, highlighted how PacBio’s de novo assembly revealed more structural variations—especially copy number changes—compared to short-read data. He also emphasized how long reads can better identify breakpoints linked to structural variations in these disorders. Richard Gibbs from Baylor noted that only about 25% of Mendelian diseases can be resolved using short-read sequencing. These platforms often miss structural variations, repetitive regions, and complex events, which limits diagnostic success. With SMRT sequencing and custom algorithms, researchers can now explore the genetic basis of such conditions more thoroughly.
At the University of California, Davis, Paul Hagerman's team successfully sequenced the pathogenic CGG repeat allele of the FMR1 gene on the X chromosome—linked to Fragile X syndrome. This region was previously considered unsequencable due to its high repetition, but PacBio managed to decode it, offering new tools for carrier screening and improving diagnosis and treatment options. In North Carolina, researchers generated the first high-quality sequence of the MUC5AC gene, associated with cystic fibrosis and other respiratory conditions. Due to its complexity, this gene had been a gap in the human reference genome. Understanding its variations could advance research into this important mucin.
Bobby Sebra from Icahn School of Medicine presented targeted sequencing of the C9orf72 locus at AGBT, revealing GGGGCC repeat expansions linked to familial amyotrophic lateral sclerosis. Using PacBio’s RS II and Sequel systems, he showed full coverage of the repeat region, offering new genetic insights. Meanwhile, Tetsuo Ashizawa and Karen McFarland from the University of Florida made progress in studying spinocerebellar ataxia type 10 (SCA10), identifying repeat interrupt motifs that correlate with different clinical features.
These breakthroughs highlight the transformative power of SMRT sequencing in rare disease research. As scientists continue to push the boundaries, we hope these advancements will lead to better diagnostics, treatments, and support for those affected. For those interested in related research tools, Nanjing Xinfan Biotechnology Co., Ltd. offers a wide range of products including ELISA kits, serum, reagents, and zymography test kits for both human and rat samples.
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