Lien T Nguyen,

My research group is interested in understanding the roles of repetitive elements or “genomic dark matter” in disease and health. Our research focuses are: 1] Detecting novel pathogenic or functional tandem repeats and repeat expansions. 2] Studying pathogenic roles of novel repeat expansion mutations. 3] Studying functions of tandem repeats in the central nervous system. We use molecular, genetic, and repeat enrichment; advanced sequencing and computational tools; animal models, patient samples and patient-derived models to identify and study pathogenic or functional tandem repeats. Disease focus: Alzheimer’s disease, amyotrophic lateral sclerosis, frontotemporal dementia and diseases with unknown etiologies. Hobbies: Outside the lab, I enjoy cooking, handmaking, and reading. Two books that I find the most impressive and helpful are Dế Mèn Phiêu Lưu ký by Tô Hoài and the 7 Habits of Highly Effective People by Stephen Covey. I also like doing Yoga, Pilates, and Tennis. Favorite sentences: “Nothing in life is to be feared, it is only to be understood” – Marie Curie. “Expect nothing – Appreciate everything” – Zen proverb.

We study the roles of tandem repeats and repeat expansions in disease and cellular function. Repetitive elements or “genome dark matter” make up > 50% of the human genome. Among the various types of repetitive DNAs, short tandem repeats, which account for > 3% of the genome, exhibit a high mutagenic rate and are a large source of genetic variation and their expansion is the cause of > 60 diseases. However, technical difficulties with sequencing through repetitive DNAs and mapping tandem repeats back to specific sites in the genome have limited our understanding of repeat expansion mutations in biology and disease. Recent findings and our discovery that novel repeat-associated non-AUG (RAN) polymeric proteins accumulate in autopsy tissue from AD and sporadic ALS patients strongly suggests that novel disease-causing expanded repeats remain to identify. Interestingly, native functions of a set of tandem repeats including the regulation of responses to environmental changes and the expression of brain-specific transcripts were also described. We use molecular, genetic, and repeat enrichment, advanced sequencing and computational tools, animal models, patient samples and patient-derived models to identify and study pathogenic or functional tandem repeats and repeat expansions. Our research focuses on three areas: 1) detecting novel pathogenic or functional tandem repeats and repeat expansions, 2) studying pathogenic roles of novel repeat expansion mutations, and 3) studying functions of tandem repeats in the central nervous system.

0000-0001-5237-2576

• Alzheimer’s disease
• Amyotrophic Lateral Sclerosis
• Diseases with unknown genetic etiologies
• Frontotemporal dementia
• Repeat Expansion Diseases
• Retrotransposable elements