Background

information Project Introduction General information on research projects Important recent discoveries

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pairs of chromosome in the genome A specific spot on the genome is called a locus Some locus have a gene sequence known as repeats Repeats are the same gene sequence repeated

Expanded CUG Repeats in DM1 Result in MBNL1 Loss-of-function and CUGBP1 Gain-offunction. 2014. Photograph. By Biochemsoctrans. Web.

 Affect

around 1 in 8000 Associated with muscle weakness and wasting Characterized by an abnormally large number of CTG/ CUG repeats Does not follow a Mendelian pattern of inheritance

Myotonic Dystrophy. 2012. Photograph. By Lubov Timchenko. Web.

 Looking

for therapeutic treatments towards DM1 (Myotonic Dystrophy) DM1 results in differing levels of proteins such as MNBL-1 Various concentration of compounds believe will effect proteins

Testing Site

 Assays

ROS

assay (Reactive Oxygen Species) Measures Cell Toxicity Dichlorodihydrofluorescin diacetate (DCFH-DA) is oxidized by ROS and a byproduct is florescence

Testing Site

 Scientific

Method Article Reading Collaboration and building off other discoveries or partners Form a hypothesis based on known information

Shaker

 Testing

hypothesis: results should be reproducible and multiple tests may be done Dont always have to just test one thing Even failures of proving hypothesis can result in valuable articles

Formulating a Plan

 Stem

Cells Can grow into various tissues or organs Stem cells created naturally during the first couple days of cell division Studies where the stem cells have been removed do not develop properly

Stem Cell. 2014. Photograph. By Elizabeth Landau. Web.

 Researchers

recently found that putting cells in acidic environment leads to creation of stem cells Useful discovery because getting stem cells from embryo's is controversial Only published results deal with mice
Incubator

 Mrs.

Click Partha Sarkar Parents UTMB