Research at the MGH is interwoven throughout more than 30 departments, centers and units and is conducted with the support and guidance of the MGH Research Institute. The Research Roundup is a monthly series highlighting studies, news and events. This month’s column includes new insights into cystic fibrosis, genetic risk factors for heart attacks, the results of vaccination efforts for cholera in Haiti, and potential connections between anxiety and Alzheimer’s disease. 

Newly Discovered Cell Type Appears to Play a Key Role in Cystic Fibrosis

A team from the MGH and the Broad Institute has found a new cell type in the lung that appears to play a key role in cystic fibrosis. Using a new sequencing technology, the team made an organ map of specialized cell types in the airway and they found an exceedingly rare cell type that specializes in balancing hydration at surface of the lung, which is important in staving off infections. They named this intriguing new cell type “pulmonary ionocytes,” and found that the cells also produce most of the gene product that, when mutated, causes cystic fibrosis. Ionocytes are now the most promising cellular target for therapeutic efforts to cure cystic fibrosis.

Identifying Genetic Risk Factors for Heart Attack

Researchers from the MGH Center for Genomic Medicine and the Broad Institute have identified a new genetic risk factor that could help to identify millions of people at more than triple the normal risk for heart attack – and millions more at high risk for type 2 diabetes, breast cancer or atrial fibrillation. This approach involves newly developed scores that tally genetic risk information from millions of sites in DNA where one patient differs from another. Most importantly, these high-risk individuals are currently flying under the radar within clinical practice, but if identified, would benefit from targeted prevention efforts.

Testing the Long-Term Efficacy of a Cholera Vaccine

MGH researchers and their Haitian colleagues found that two doses of an oral cholera vaccine (OCV) were effective in protecting individuals in Haiti against cholera for at least four years. The research team collaborated with Haitian public health officials to vaccinate more than 50,000 people against cholera in 2012 and studied cases of diarrhea for the subsequent four years. This is the first study showing OCV has long-term effectiveness when used in a cholera outbreak, and the first study of the long-term effectiveness of OCV in a country like Haiti, where the disease was newly introduced. The results add to the evidence needed to improve prevention and control of cholera globally.

A Connection Between Anxiety and the Risk of Alzheimer’s Disease?

Alzheimer’s disease is characterized by the accumulation of abnormal brain proteins – amyloid-beta and tau – a process that begins when older adults are cognitively unimpaired. Researchers at the MGH are working to define very early neurobehavioral and biological markers of Alzheimer’s disease prior to cognitive impairment. In a neuroimaging study of normal older adults, researchers found that high amyloid-beta in subcortical structures, a region of advanced accumulation, was associated with higher levels of anxiety and particularly in carriers of the APOEe4 genetic marker. These findings point to anxiety and specific genetic and regional biomarkers that may identify individuals at highest risk of cognitive decline.

Read more articles from the 09/07/18 Hotline issue.