Student Research Projects from Spring 2013
In Spring 2013, twenty student research teams were challenged to propose and pursue a single focused research project for the semester. All students picked a genetic/gene-linked disease and designed PCR-based diagostic assays for mutations known to cause that disease. Each group wrote manuscripts gave numerous talks. The reseach assignment involved an extra "control" experiment, where each group was required to also find an existing published PCR assay for the same gene and replicate the experiment using the published primer sequences. These are often referred to as the "control" primers in the final reports/manuscripts.
NOTE The student groups were also required to perform sociological experiments where they lived the life of someone with the disease and created short documentary films, only 5-minutes in length, using still photos to communicate the findings of their "30 Days" sociological experiment (see links to YouTube, often at the bottom of each group's website).

Student websites reporting their findings at the end of the independent investigations from Spring Semester 2013

Isolated Growth Hormone Deficiency Type II: Amplifying GH1 Gene by IB3 PCR to Identify Genotype of IGHD Type II Patients with E3+5A>G Mutation.

Duchenne and Becker muscular dystrophy (DMD/BMD): Use of PCR to diagnose BMD/DMD in human cells by the detection of the deletion of exon 47 on the dystrophin.

Fibrodysplasia Ossificans Progressiva (FOP): Diagnosis of Fibrodysplasia Ossificans Progressiva (R206H) on gene ACVR1 via Tetra Primer ARMS PCR.

Angelman Syndrome (AS): Genetic Detection of Angelman Syndrome Patients with the UBE3A Mutation in IB3 Cells Using PCR and Gel Electrophoresis.

Type II diabetes: Genotypic Identification of Diabetic Patients with the B24 INS Gene Mutation using IB3-1 Cells and Allele Specific PCR.

Wilson's Disease: Performing Allele Specific PCR on Human Epithetical Cells to Identify the Presence of the H1069Q Mutation on the ATP7B Gene Known to Cause Wilson's Disease.

Marfan Syndrome (MFS): Identification of the G1013R Homo Sapien Mutation within Marfan Syndrome Patients via Allele-Specific PCR.

Amyotrophic lateral sclerosis (ALS): Genotypic Identification of the MYH7 R403Q Mutation using PCR on Human S9 Epithelial Cells yields negative results.

Alpers' disease: Detection of the A467T Mutation on the POLG Gene in IB3 Epithelial Cells byAllele Specific PCR and Gel.

sickle cell anemia: Genotypic Identification of SCA Patients with the GLU6VAL Mutation using Allele Specific PCR.

Pseudoxanthoma Elasticum (PXE): Identifying the R1141X nonsense mutation using allele specific PCR amplification on the ABCC6 gene in human cells.

DiGeorge Syndrome (DGS): Genotypic Amplification of the G310S Mutation of the TBX1 Gene Using Allele Specific PCR on DNA from IB3 Cell.

Hemophilia A: Identification of Hemophiliac R2116X Genotype and Healthy Genotype in Human S9 Cells using PCR.

Friedreich's ataxia (FDRA): PCR Analysis of Human IB3 Epithelial Cells to Reveal Presence of FDRA Expansion Mutation on FXN Gene.

Type I Osteogensis imperfecta (OI): Detection of Gly178Cys Mutation on the COlA1 gene in Human IB3-1 Cells using PCR.

Sickle cell anemia: Genotypic Identification of SCA due to the HbS Mutation in Human Epithelial Cells via AS-PCR.

Familial Hypercholesterolemia (FH): Genotypic Identification of Human ApoB-100 R3500Q Mutation of a Hypercholesterolemia Patient Using S9 Epithelial Cell Lines and Allele Specific PCR.

Ehlers-Danlos syndrome (EDS): Detecting Point Mutation on COL5A1 Gene in Human IB3-1 Epithelial Cells by PCR and Gel Electrophoresis for EDS.

Spinal Muscular Atrophy (SMA) type 1: PCR and Gel Analysis of the Human SMN1 Gene Using Control Primers on IB3-1 Bronchial Cells to Diagnose SMA.

Hypolactasia: Diagnosing Hypolactasia by Genotyping MCM6 Gene SNP C/T-13910 In human IB3-1 cell lines via Allele Specific PCR.