One of the Biology and Chemistry Department's most promising students, Taiyabah Naeem, a senior double majoring in chemistry and biology, is contributing to the growing field of genetic research.
Taiyabah completed two ten-week internships over the past two summers, one at the University of Pennsylvania School of Medicine at Children's Hospital of Philadelphia, and another at Stanford University in Palo Alto, California.
At the University of Pennsylvania, Taiyabah was assigned to the Human Genetics Department at the hospital where she was presented with a mystifying case of a seven-year-old boy with physical abnormalities - enlarged head, clouding of the eyes, short stature and developmental delays.
Surprisingly, all genetic tests came back normal. So Taiyabah and her genetics team analyzed the child's DNA through a DNA purification process. Taiyabah placed the child's drawn blood into a buffer to diffuse the contents and then transferred it to a centrifuge so proteins would be extracted leaving the visible DNA.
Using the next procedural step called microarray analysis or DNA Chip Analysis, Taiyabah was able to see a fixed line with different chromosomes dotted along the line using a computer program and discovered a missing gap at the 13th chromosome - the smallest deletion ever reported for this particular genomic region.
The child was missing five genes, one of which was the B3GALTL, previously associated with a rare genetic disorder known as Peters' Plus Syndrome (PPS). Since each person has two copies of each gene, Taiyabah went ahead and tested the research team's hypothesis that a mutation must exist on the other copy of the B3GALTL gene. Voila! The child did indeed have a mutated copy and, thus, the cause of the child's symptoms finally discovered.
The team's research results were published in the July edition of the American Journal of Medical Genetics. Says Taiyabah, "Much of our team's experiment lead to that finding. This was a pretty exciting discovery because this disease is so rare."
Taiyabah also completed another internship at Stanford University in Palo Alto, California last summer where she worked in the Otolaryngology and Molecular and Cellular Physiology Lab, investigating "the pathway of the molecules called aminoglycosides and their entrance into the hair cells of the ear."
This project, Taiyabah explains, "would help scientists gain a better understanding of the aminoglycosides entry into the mechanical electrical transducer channels of the hair cells responsible for transmitting sounds."
Now back at school, Taiyabah, who is also minoring in Psychology, is finishing up her senior year and her Capstone Honors project, "Molecular Analysis of B3GALTL in a Patient with Peters' Plus Syndrome" and hopes to go to medical school after graduation. She also sees on the horizon a Master's degree and a Ph.D. in addition to doing lab research, teaching at a university, and practicing family medicine. With an unwavering eye and drive, she'll be more than just a DNA detective.