Through their lens: Erica Keane does research to better understand Williams syndrome

This summer we’re sponsoring high school interns in stem cell labs throughout California. We asked those students to contribute to our Instagram photos and YouTube videos about life in the lab, and write about their experiences.

Erica Keane working in the lab of Ken Kosik at UCSB. She submitted this photo through Instagram to CIRM’s #CIRMStemCellLab collection

In my research I verified a patient specific induced pluripotent stem cell line that will be used to model a neurodevelopmental disorder. Induced pluripotent stem cells (iPSCs) were adult somatic cells but they are been genetically reprogrammed into an undifferentiated state. The cells that I am working with were skin cells from patients with Williams syndrome. My job is to make sure that these skin cells were successfully reprogrammed into an undecided state. If they are in fact pluripotent they will have the ability to turn into any type of cell: liver cells, blood cells, skin cells, etcetera. If I am able to validate this stem cell line, the cells will be turned into neurons to gain a better understanding of Williams syndrome. Scientists can also use these cells for disease modeling, drug screening, and transplantation studies. One promising method of treatment is regenerative medicine, in which scientists will use these iPSCs to grow tissues and organs that can be transplanted into patients.

Williams syndrome effects 1 in 10,000 people born in the US. People with Williams syndrome die early due to heart attacks, strokes, and other complications. Despite mental retardation, people with Williams syndrome exhibit very social personalities and highly developed verbal skills. Scientists are not sure why there is the combination of low IQs and high verbal skills but hopefully future research will shed light on this peculiarity.

To verify the stem cell line I carried out a number of tests. The Williams syndrome skin cells that had been genetically reprogrammed into an undecided state were first Karyotyped for a quality check. This was to make sure that no macroscopic damage had occurred to the chromosomes during reprogramming. Then I carried out bisulfite conversion to check the methylation status of the Oct4 promoter. This was to make sure that the reprogramming was successful on an epigenetic level. Next, we used ICC (immunocytochemistry) to check for self-renewal marker expression. This consisted of staining the cells and looking for certain embryonic stem cell markers under a fluorescent microscope. These markers are necessary to maintain the undecided state. Lastly, we made sure that the iPSCs could differentiate into the three germ layers that are found in an embryo. We did this by again using ICC but this time looking for markers in each germ layer.

Since all of our tests proved that the cells are in fact induced pluripotent stem cells, the line can now be used to model Williams syndrome. The line can also be used to model other disease but my research will first have an impact of gaining a better understanding of Williams syndrome.

Erica Keane

Erica sent us this video of her experience:

5 thoughts on “Through their lens: Erica Keane does research to better understand Williams syndrome

  1. This is Suresh from India. My daughter is diagnosed with the William’s syndrome confirmed through Genetic study. Interested to know the help this research can offer

  2. if a baby is diagnosed with williams syndrome and it does not get too complicated. say the baby is now 40 years old and is in a relationship where he wants to have kids. will his kids have the disease?

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