News and Updates
Research team led by Biomedical Genetic's Chief Dr. Lindsay Farrer studied whole exome sequencing data from the Alzheimer’s Disease Sequencing Project and discover genetic variants previously masked by presence of the ApoE genotype. Read more on alzforum.org.
Researchers in the section of Biomedical Genetics have identified two, extremely rare genetic variants linked to Alzheimer disease (AD) for the first time.
“Our findings indicate that different mutations in the same gene or different number of copies of a particular mutation may lead to very distinct forms of dementia,” explained corresponding author Lindsay Farrer, PhD, chief of the Biomedical Genetics division. Read more.
“DNA Kits Yield Different Results From Two Genetics Companies”
Dr. Lindsay Farrer, Chief of Biomedical Genetics section, helps clarify the accuracy of DNA ancestry kits like 23 and Me and Ancestry.com.
Users of these genetic testing services have questioned their accuracy after receiving different test results from different companies.
Dr. Farrer notes that differing reference samples and unique algorithms used by each company may be among the causes of conflicting results. Read More.
Colon cancer is the second leading cause of cancer deaths in non-smoking men and women, and because surgery has limited therapeutic role with metastatic colon cancer, chemotherapy is widely used as the first-line therapy. However, several studies have indicated that patients harboring SMAD4 mutations corresponding to chromosome 18q deletions that frequently occur during advanced stages of colon cancer exhibit resistance to chemotherapy. Dr. Thiagalingam has been awarded a BU-CTSI Integrated Pilot grant entitled “Sensitization of chemotherapy resistant metastatic colon cancer” to initiate the identification of molecular mediators that promote colon cancer metastasis and resistance to common chemotherapeutic agents correlating to the loss of function of SMAD4 for precision targeting to restore sensitivity to chemotherapy. In the long-term, this award will help Dr. Thiagalingam to generate critical preliminary data to tap into funds to undertake comprehensive understanding of resistance to chemotherapy in colon cancer.