Stormy Chamberlain

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Stormy J Chamberlain Ph.D., is an American scientist who conducts research in the fields of genetics, neurobiology, and developmental biology. She is known for her work on disorders involving chromosome 15, particularly Angelman syndrome.

Education[edit]

Chamberlain received her B.A in Molecular Biology from Princeton University. From there, she received a PhD in molecular genetics from the University of Florida. After completing her PhD, Chamberlain participated in Postdoctoral training at the University of North Carolina in the field of genetics. She went on to partake in a second Postdoctoral fellowship in genetics and developmental biology at the University of Connecticut Health Center..[1]

Career[edit]

Chamberlain currently works at the University of Connecticut as both an Assistant Professor in Genetics and Genome Sciences and the Associate Director of the Graduate Program in Genetics and Developmental Biology. For the past 10 years, she has also dedicated a lot of her time in researching the mechanisms behind several neurogenetic diseases and has won several awards from her findings.[1] She has authored over 20 journal articles from her work. Chamberlain has also given more than 30 lectures and talks about topics related to her research all across the United States. Finally, she serves as a member on several advisory boards, including the ASF Scientific Community Advisory Board, Dup15q Alliance Scientific Advisory Board, and the International Journal of Medical Genetics Editorial Board.[2]

In the research lab, Chamberlain prides herself in involving the individuals and families of the people with Angelman syndrome, one of the diseases she studies. The families are invited to the lab, given tours, and explained the current progress of the projects. Chamberlain does this not only because she asks them participate in these studies, but also to show her colleagues and graduate students why they do the research in the first place. Chamberlain believes that if her lab is able to contribute to one therapy for Angelman syndrome, she will consider that a successful career.

Awards[edit]

Throughout her career, Chamberlain has won four major awards/honors[3]:

  • Joseph Moretti Jr. "BELIEVE" Award for Excellence in the Advancement of Angelman Research awarded by the Fighting Angels Foundation
  • Women of Innovation honoree in Research and Leadership awarded by the Connecticut Technology Council
  • Osborn Award for Excellence in Biomedical Sciences Graduate Teaching awarded by the Graduate Student Organization
  • Raymond and Beverly Sackler Endowed Assistant Professorship awarded by the Raymond and Beverly Sackler Foundation

Research[edit]

Disorders of chromosome 15

In 2009, Chamberlain established her lab at The University of Connecticut which uses induced pluripotent stem cells (iPSC’s) to study human imprinting disorders[1]. Human imprinting disorders are caused by genomic imprinting where gene expression is allele-specific and one of the parental gene copies is silenced[4]. Normally, genetic imprinting is important for development. However, when imprinting happens improperly it can result in diseases where the affected individual has two active or two inactive copies of a gene that can lead to abnormalities [5]. The three specific imprinting disorders that Chamberlain studies are Angelman syndrome, Prader-Willi Syndrome, and 15q duplication syndrome. All three of these diseases are considered to be neurodevelopmental disorders which are characterized by developmental brain dysfunction. They are a result of problems involving the chromosome 15 between bands q11 and q13. Chamberlain’s lab works on making iPSC’s from patients with Angelman, Prader-Willi, and Dup15q syndrome who have extra genetic material on their 15th chromosome. This allows them to study the cellular processes and imprinting regulation that causes these diseases. Their goal is to understand the mechanisms in which these diseases occur in order find and develop way to reverse them in the future[6]

The second project that Chamberlain's lab is researching involves genetic imprinting of Ubiquitin-protein ligase E3A (UBE3A), which is a gene that when mutated, has been found to cause some cases of Angelman syndrome.[7]. It has been that previously hypothesized that this gene is silenced in the brain by a long non-coding antisense transcript called LNCAT. However, the method in which this process happens is unknown. Chamberlain and her colleagues are using iPSC’s from both normal humans and those with Angelman’s syndrome to study how the UBE3A is regulated during in vitro neural development in hopes of better understanding the disorder[1]

Chamberlain’s research, in collaboration with other labs, is considered to be at the forefront of research development particularly for Angelman syndrome. One reason for this is the fact that these labs are using human stem cells. To the iPSC’s used in the experiments, fibroblast cultures from skin biopsies, cord blood samples, and peripheral blood samples were taken from individuals with Angelman syndrome and converted into cells that are indistinguishable from embryonic stem cells[4]. From there, the lab uses a variety of methods to differentiate these stem cells into neurons that are identical to the genes of the affected donors. Previously, scientists had been using mouse models that mimicked the disease.[6] Chamberlain and her colleagues are able to induce stem cells to be genetically identical to the brain cells of a person affected by the disease to use as a better disease model. This allows the research done on Angelman’s syndrome and other similar diseases to more accurately reflect what is going on in these patients than would research on mice[6].

References[edit]

  1. 1.0 1.1 1.2 1.3 "Faculty Directory - Stormy J Chamberlain, Ph.D." UConn Health. University of Connecticut. Retrieved 20 November 2017.
  2. "Stormy Chamberlain, Ph.D." Angelman. Angelman Syndrome Foundation. Retrieved 26 November 2017.
  3. "Stormy J Chamberlain, Ph.D." UConn. University of Connecticut. Retrieved 25 November 2017.
  4. 4.0 4.1 Chamberlain, Stormy; Lalande, Marc (28 July 2010). "Angelman Syndrome, a Genomic Imprinting Disorder of the Brain". Journal of Neuroscience. 30 (30): 9958–9963. Retrieved 27 November 2017.
  5. "Genomic Imprinting". Learn Genetics. University of Utah. Retrieved 22 November 2017.
  6. 6.0 6.1 6.2 Poltras, Colin. "Isolating Their Targer". UConn Today. University of Connecticut. Retrieved 25 November 2017.
  7. Chamberlain, Stormy; Fink, James; Robinson, Tiwanna; Germain, Noelle; Sirois, Carissa; Bolduc, Caitlyn; Ward, Amanda; Rigo, Frank; Levine, Eric (24 April 2017). "Disrupted neuronal maturation in Angelman syndrome-derived induced pluripotent stem cells". Nature Communications. 8: 15038. doi:10.1038/ncomms15038. PMC 5413969. PMID 28436452.


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