Dr. Jeannine Gerhardt, an assistant professor of stem cell biology in obstetrics and gynecology and in reproductive drugs at Weill Cornell Drugs, has obtained a five-year, $2.1 million grant from the Nationwide Institute of Normal Medical Sciences (NIGMS), a part of the Nationwide Institutes of Well being, for the examine of repetitive DNA and RNA sequences and the mechanisms by which they trigger cell dysfunction and ailments.
The NIGMS Maximizing Investigators’ Analysis Award is meant to help recipients’ analysis extra broadly and flexibly than customary undertaking grants, which should specify proposed analysis totally prematurely.
This award is especially good as a result of it offers us the flexibleness to comply with up on any stunning findings as we pursue our analysis pursuits.”
Dr. Jeannine Gerhardt, assistant professor of stem cell biology in obstetrics and gynecology and in reproductive drugs at Weill Cornell Drugs
Repetitive DNA sequences, or DNA repeats, are patterns of nucleotides, the constructing blocks of DNA, that happen in a number of copies (equivalent to CAGCAGCAGCAG…). Some are discovered solely in a selected gene, whereas others happen at a number of websites throughout the genome. Whereas DNA repeats are widespread, and most are usually not dangerous, others clearly trigger ailments.
How DNA repeats trigger cell dysfunction and ailments is way from being absolutely understood. However the broad mechanisms are recognized to incorporate the disruption of genome replication throughout cell division as a result of formation of irregular DNA buildings, and the transcription of repeat-containing DNA into irregular RNA buildings that may additionally hurt cells in numerous methods. Huntington’s illness, myotonic dystrophy 1 and a pair of, Friedreich’s ataxia, Fragile X syndrome, and a type of amyotrophic lateral sclerosis are among the many dozens of problems brought on by DNA repeats.
An vital disease-related phenomenon linked to some DNA repeats is their tendency to elongate from one era to the following. Dr. Gerhardt hopes to light up how this “repeat-expansion” happens, partly with experiments in human egg cells, which historically have been troublesome to take care of and examine within the lab.
Dr. Gerhardt and her workforce additionally will look at extra broadly how DNA replication and restore techniques cope, or fail to manage, with irregular repeat-containing DNA buildings. On this line of investigation, they’ll examine how the genome-repair course of is affected by mutations in restore proteins-;equivalent to BRCA1, which has been implicated in lots of familial breast and ovarian cancers.
“All this falls into the class of fundamental analysis, however the information we achieve in regards to the fundamental mechanisms resulting in genomic instability in cells with inadequate BRCA1, for instance, will improve our understanding of how cancer-causing mutations come up in girls carrying inherited BRCA1 mutations,” Dr. Gerhardt mentioned.
