Addiction, Author Interviews, Genetic Research, Nature / 29.03.2023 Interview with: Alexander S. Hatoum, PhD Research Assistant Professor Institute for Behavioral Genetics Washington University in St. Louis What is the background for this study? Response: It is well known that someone with one substance use disorder will have another sometime in their lifetime or concurrently.  Further, individuals that do manifest two or more substance use disorders in their lifetime have the most morbid conditions. However, research often ignores the comorbidity and focuses on diagnosis of one substance use disorder at a time (i.e. opioid use disorder or alcohol use disorder). We set out to identify the biology behind the cross-substance liability. (more…)
Author Interviews, Genetic Research / 21.03.2023 Interview with: Ernest Turro, PhD Associate Professor Genetics and Genomics Sciences The Turro group runs a research program on statistical genomics, with a dual focus on rare diseases and blood-related traits at the Icahn School of Medicine Mount Sinai Health System What is the background for this study? Would you describe the Rareservoir database? Response:   The main motivation for our work is that only half of the approximately 10,000 catalogued rare diseases have a resolved genetic cause (or aetiology). Patients with these diseases are unable to obtain a genetic diagnosis which could otherwise inform prognosis, treatment for themselves and affected relatives. One route towards resolving the remaining aetiologies is to enroll large numbers of rare disease patients into research studies so that statistical analyses can be performed comparing the genetic with the clinical characteristics of the study participants. One major endeavour, the 100,000 Genomes Project (100KGP), sequenced the genomes and collected clinical phenotype data for 34,523 UK patients and 43,016 unaffected relatives across 29,741 families. The scale of this study is unprecedented, partly thanks to the ever-decreasing cost of DNA sequencing (25 years ago, it cost $1bn to sequence a whole genome, while now it costs only a few hundred dollars). Working with such large datasets is notoriously cumbersome. To overcome this, we developed a computational approach (the Rareservoir) that distills the most important information into a relatively small database, allowing us to apply our statistical methods nimbly. We noted that the "genetic variants" that cause rare diseases are typically kept rare in the human population by natural selection because affected individuals tend to have few children, if any. This meant that we could discard the genetic information corresponding to variants that are common in the human population without throwing away the key disease-causing variants. By focussing on these "rare variants", we were able to perform our analyses using a small database (a `Rareservoir’), only 5.5GB in size, hastening our progress significantly. (more…)
Author Interviews, Fertility, Nature / 14.02.2023 Interview with: Melanie Balbach PhD Postdoctoral Associate in Pharmacology Weill Cornell Medicine What is the background for this study? Response: For men, the only two options for birth control currently available are condoms and vasectomy. Additional contraceptive methods are required to more equally distribute the burden of contraception between men and women. We aim to develop an on-demand contraceptive pill for men where sperm motility and thereby fertility is only blocked for multiple hours. The idea is that men take our contraceptive shortly before intercourse and regain fertility about 24 hours later. (more…)
Author Interviews, Nature, Stem Cells / 05.09.2022 Interview with: Gianluca Amadei PhD Post-Doctoral Fellow University of Cambridge, UK What is the background for this study? What are the main findings? Response: The background of this study is that we tried to build a structure that looks and develops like a real mouse embryo using different kinds of mouse stem cells. The main findings are that the resulting structures develop the entire embryonic body axis and the extraembryonic tissues that are required to support embryonic development. Our structures develop to a stage comparable to 8.5 days of embryonic development of the natural mouse embryos and have a brain and neural tube, a beating heart-like structure, gut and primordial germ cells. (more…)
Aging, Author Interviews, Environmental Risks, Nature / 30.07.2022 Interview with: Dr. Jaga Giebultowicz Professor Emeritus, Department of Integrative Biology Oregon State University Corvallis, OR 97331  What is the background for this study?  Where is blue light commonly found? Response: Our study in short-lived model organism Drosophila revealed that cumulative, long-term exposure to blue light impacts brain function, accelerates the aging process and significantly shortens lifespan compared to flies maintained in constant darkness or in white light with blue wavelengths blocked. Blue light is predominantly produced by the light-emitting diodes (LEDs); it appears white due to the addition of yellow fluorescent powder which is activated by blue light. LEDs has become a main source of  display screens (phones, laptops, desktops, TV),  and ambient lights. Indeed, humans have become awash in LEDs for most of their waking hours. (more…)
Author Interviews, Infections, NIH / 30.06.2022 Interview with: Nihal Altan-Bonnet, Ph.D. Chief of the Laboratory of Host-Pathogen Dynamics NHLBI  What is the background for this study?  What are the main findings? Response: Enteric viruses such as norovirus, rotavirus and astrovirus are responsible for nearly 1.5 billion global infections per year resulting in gastrointestinal illnesses and sometimes leading to death in the very young, in the elderly and in the immunocompromised. These viruses have been thought to traditionally infect and replicate only in the intestines, then shed into feces and transmit to others via the oral-fecal route (e.g. through ingestion of fecal contaminated food items). Our findings reported in Nature, using animal models of norovirus, rotavirus and astrovirus infection, challenge this traditional view and reveal that these viruses can also replicate robustly in salivary glands, be shed into saliva in large quantities and transmit through saliva to other animals. In particular we also show infected infants can transmit these viruses to their mothers mammary glands via suckling and this leads to both an infection in their mothers mammary glands but also a rapid immune response by the mother resulting in a surge in her milk antibodies. These milk antibodies may play a role in fighting the infection in their infants .  (more…)
Author Interviews, Nature, Neurology / 05.05.2022 Interview with: Juan Piantino, M.D., MCR Assistant Professor of Pediatrics Division of Neurology, School of Medicine Director, Inpatient Child Neurology Oregon Health Sciences University  What is the background for this study?    Response: Astronauts are exposed to several stressors during spaceflight, including radiation, lack of gravity, and sleep deprivation. The effects of those stressors on the brain remain unknown. Is it safe to travel to space? For how long can humans survive in space? What are the effects of spending months under zero gravity? With more extended missions, and an increased number of civilians traveling to space, there is increased interest in understanding what happens to our brains when we leave earth. (more…)