What is the Margaret Bilson Scholarship?
The Margaret Bilson Scholarship was established in 2014 following the passing of Ms. Bilson. Margaret was an Arizona native and UA alumna who had a passion for microbiology. This award supports clinical microbiology students matriculating through the College of Medicine-Tucson. Each of these students received more than $5,000 scholarship funds per semester (Fall 2016 and Spring 2017)..
Both Aakriti and Virginia had internships with faculty members from the College of Medicine. They were nominated by the program chair of the Professional Science Master’s in Applied Biosciences (PSM-ABS), Istvan Molnar, and Margaret Bilson Scholarship committee who were their greatest advocates for this prestigious award.
Originally from India, Aakriti was admitted in the Fall of 2015 at the University of Arizona and committed to earning a degree in Diagnostic Laboratory Sciences (DLS) track in the PSM-ABS program. During her first academic year she focused solely on her studies. And in the Summer 2016, she started her internship project in Dr. Mark Nelson’s Laboratory. This internship was a great learning experience, which provided her an excellent opportunity to work on complex genetic diseases with the help of the latest research techniques.
She is naturally grateful to receive this scholarship, because now she can focus more on her studies and research work. Graduating with a PSM-ABS degree would for her be the most logical extension of her academic pursuits and a major step towards achieving her objectives.
Below is the winning abstract Aakriti submitted to the Margaret Bilson Scholarship committee:
Abstract for research project related to novel variant of the
TAF1 gene associated with cerebellar atrophy
ABS-PSM (Diagnostic Laboratory Sciences)
Nelson Lab, Department of Pathology
College of Medicine, University of Arizona
Motivation: Cerebellar ataxias are a group of neurodegenerative disorders characterized by atrophy of the cerebellum leading to motor dysfunction, balance problems, as well as limb and gait abnormalities. Our lab performed clinical exome sequencing, whole-genome sequencing, and mRNA-sequencing over a 2-year period on a family trio containing an affected proband and his unaffected parents and grandfather. The 3-year old male proband presented with global developmental delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and abnormal MRI with progressive cerebellar atrophy of unknown origin. A variant in the TAFl gene (pSerL579G1y) in the proband has been identified. Although it is known that TAF1 participates in the activation of gene transcription in most cell types in eukaryotes,it is not understood how variants can cause exclusively neurologic phenotypes.
The overall goal of this project is to gain insight into how TAF1 variants cause abnormalities in the cerebellum. Recent work from our laboratory demonstrates that cells, in which TAF1 gene has been mutated are at the second bromodomain (pSer1579Gly). Mutations in TAF1 have been associated with disturbances in the cell cycle. Thus, we postulate that mutations in TAF1 may alter cyclin gene expression which lead to cell cycle abnormalities.
Specific Aims: To address this hypothesis, the following specific aims will be pursued:
1) To determine the effect of TAF1 deficiency and/or pSer1579G1y TAF1 variant
on the cell cycle.
2) To assess cyclin gene expression by qRT-PCR and Westeren analysis in TAF1 deficient and mutant cells.
Primary Methods to be used:
The methods to be used for these experiments include mammalian cell culture, sitedirect mutagenesis, Flow Cytometery, Protein isolation, Western Analysis, RNA isolation and qRT-PCR.
Like Aakriti, Virginia is an international student. She came all the way from Santa Croce sull’Arno Italy to be a student in the Molecular & Cellular Biology (MCB) track of PSM-ABS program. A very diligent student, she is on track to graduate this coming May 2017. Virginia obtained her Bachelor of Science in Forensic and Medical Sciences degree from the University of Bradford, United Kingdom in 2014. In Spring 2016 she started her internship in Dr. Keith Maggert’s laboratory. During her internship she had the opportunity of participating in in a project aimed at determining the status of rDNA copy number (CN) in breast cancer cells compared to that of normal cells. She has been learning a lot about microbiology and genetics. With the generous scholarship award she will continue her studies. This is because, like most international students she has to grapple with strained financial resources in addition to complying with strict academic policies, such as enrolling for at least 9 units per semester. This means, juggling classes, laboratory duties and class work, leaving her no time to find a part time job to support herself and her studies better. Hence, the Margaret Bilson award is a welcome gift to her and her family. With this award she can devote her time solely on her studies, lab work and research until her graduation. She will be forever grateful to the people who nominated her for this scholarship, as well as to the family of Margaret Bilson and the Scholarship Award Committee.
The abstract that Virginia had submitted is below:
VIRGINIA VALORI Aug 27th 2016
MASTER’S INTERNSHIP ABSTRACT
I have been completing my Master’s internship in Dr. Keith A. Maggert’s lab (in the University of Arizona Cancer Center, UACC). The laboratory focuses on understanding genetic and epigenetic alterations in cancer. The project to which I have been assigned principally involves the study of repetitive sequences of ribosomal DNA (rDNA), specifically of the 18S, 28S and 5S genes, in human cancer cells. Copy Number Variation (CNV) in repeating regions of the DNA has been previously linked to cancer initiation and progression. Therefore, one of the principal aims of this project is the determination of the status of rDNA copy number (CN) in breast cancer cells in comparison to that of normal cells. In order to do so, I extracted DNA from paired samples (one breast cancer sample and one normal breast tissue sample) from the same patients. After DNA extraction, I used Real-Time PCR and mathematical analyses to determine the rDNA CN of the samples. The analyses revealed the presence of rDNA CNV between tumor and normal tissue samples from the same patients. The relevance of this finding in relation to cancer initiation and progression is still to be defined.