DNA Hydroxymethylation in Non-coding Repeat Expansion Disorders - Esanov, Rustam
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My research is focused on the repeat expansion disorders, a family of disorders that result from the repetitive microsatellite sequence within the gene. In particular, this thesis investigates two non-coding repeat expansion disorders: C9orf72-associated Amyotrophic Lateral Sclerosis (C9-ALS) and the Fragile X Syndrome (FXS). Our group was the first to report the presence of 5-hydroxymethylcytosine, a novel epigenetic mark and active DNA demethylation intermediate, at the expanded loci of patients with C9-ALS and FXS.

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Produktbeschreibung
My research is focused on the repeat expansion disorders, a family of disorders that result from the repetitive microsatellite sequence within the gene. In particular, this thesis investigates two non-coding repeat expansion disorders: C9orf72-associated Amyotrophic Lateral Sclerosis (C9-ALS) and the Fragile X Syndrome (FXS). Our group was the first to report the presence of 5-hydroxymethylcytosine, a novel epigenetic mark and active DNA demethylation intermediate, at the expanded loci of patients with C9-ALS and FXS.
Autorenporträt
Rustam grew up in Ashgabat, Turkmenistan and attended Fatih University in Istanbul, Turkey to study biology. During his PhD at the University of Miami, he characterized novel epigenetic abnormalities associated with the repeat expansion disorders using induced pluripotent stem cells as a disease model.