Genome Analysis Can Overestimate Incidence of Chronic Kidney Disease Interview with:

Hila Milo Rasoul, PhD Postdoctoral research scientist Ali Gharavi Lab Columbia University

Dr. Milo Rasouly

Hila Milo Rasouly, PhD
Postdoctoral research scientist
Ali Gharavi Lab
Columbia University What is the background for this study?

Response: Genome sequencing is increasingly used in clinical medicine to help make a clinical diagnosis and make predictions about potential future complications. The diagnostic yield and limitations for different indications are still being worked out.  We are interested in studying the applications of genome sequencing for chronic kidney diseases. It is estimated that 10% of adults have chronic kidney disease (CKD), and amongst them, 10% are caused by single-gene (Mendelian) forms of disease.

The American College of Medical Genetics and Genomics developed guidelines on how to interpret genetic variants in order to make a genetic diagnosis. Our lab has been engaged in studying the yield and impact of genetic testing for  CKD, and in the course of our research, we realized that a very large number of individuals have genetic variants that may be classified as pathogenic based on automated application of the guidelines. However, in majority of these cases, the genetic variant was much too frequent in the population to be plausibly disease-causing or did not match up well with the clinical diagnosis. This led us to wonder about the risk of false-positive genetic diagnosis. To analyze this risk for false-positive genetic diagnosis, we analyzed the genome sequence of 7,974 self-reported healthy adults.

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Parental Attitudes Linked to Infant Sugar-Sweetened Beverage Consumption Interview with:
“Soda” by Jannes Pockele is licensed under CC BY 2.0Jennifer Woo Baidal, MD, MPH
Assistant Professor of Pediatrics
Director of Pediatric Weight Management,
Division of Pediatric Gastroenterology, Hepatology, and Nutrition,
Columbia University Medical Center &
New York-Presbyterian Morgan Stanley Children’s Hospital What is the background for this study? What are the main findings?

Response: Childhood obesity prevalence is historically high, with most incident obesity among children occurring before age 5 years. Racial/ethnic and socioeconomic disparities in childhood obesity are already apparent by the first years of life. Latino/Hispanic children in low-income families are at-risk for obesity. Thus, understanding potentially effective ways to prevent childhood obesity, particularly in vulnerable populations, should focus on early life.

Sugar-sweetened beverage (SSB) consumption is a modifiable risk factor for obesity and is linked to other adverse health outcomes. Maternal SSB consumption in pregnancy and infant sugar-sweetened beverage consumption in the first year of life are linked to later childhood obesity.

We sought to describe beverage consumption in a modern cross-sectional cohort of 394 low-income, Latino families, and to examine the relationship of parental attitudes toward sugar-sweetened beverages with parental and infant SSB consumption.

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Why Are So Many People Near-Sighted? Interview with:
Andrei V. Tkatchenko, M.D., Ph.D.
Associate Professor
Columbia University Medical Center
Edward S. Harkness Eye Institute
New York, NY 10032 What is the background for this study? What are the main findings?

Response: Clear distance vision is rapidly becoming a rare privilege around the world, especially in Asia, due to increasing prevalence of myopia.

Although much effort has been directed towards elucidating the mechanisms underlying refractive eye development and myopia, treatment options for myopia are mostly limited to optical correction, which does not prevent progression of myopia or pathological blinding complications often associated with the disease. During early childhood development, the axial length of the eye normally grows to match its optical power in a process called emmetropization, producing focused images on the retina. However, very often environmental and genetic factors lead to a mismatch between the optical power of the eye and its axial length resulting in the development of myopia if eyes grow too long for their optical power. Experimental studies in many animal species suggest that emmetropization is regulated by optical defocus. The eye can compensate for imposed negative and positive optical defocus by increasing or decreasing its growth rate, respectively. However, the molecular mechanisms underlying emmetropization are poorly understood which prevents development of anti-myopia drugs.

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