Visualizing Publication Trends for Scientists
Introducing ScholarTrends, an R Shiny application that produces seven interpretable graphics summarizing a scientist’s entire publication history. This tool adds transparency to a researcher’s trajectory and makes it more accessible to quickly understand a person’s publication trends.
Mitochondrial Function: Beyond Serving as the ‘Powerhouse of the Cell’
A new study shows that mitochondria help determine what undifferentiated cells in a growing embryo eventually will become. The study reveals a new underlying biological mechanism of mitochondrial metabolism and has important implications for treating diseases such as cancer.
Yale researchers find 2 types of autism, underscoring the need for different treatments
Researchers at the Yale School of Medicine’s Child Study Center have discovered at least two different types of autism. The findings, published in the journal Nature Neuroscience, suggest a need for more than just one drug to treat symptoms.Source: Connecticut Public Radio
Yale autism study’s findings could help scientists develop treatment options
YCSC researchers comment on recent study findings indicating that Autism spectrum disorder may be associated with an imbalance of excitatory neurons in the brain, which could have implications for future treatment options.Source: New Haven Register
Yale Scientists Reveal Two Paths to Autism in the Developing Brain
Two distinct abnormalities that arise just weeks after the start of brain development have been associated with the emergence of autism spectrum disorder. The study was co-led by Alexandre Jourdon, Feinan Wu, and Jessica Mariani, all from the Kavli Institute affiliated lab of Flora Vaccarino at Yale School of Medicine.Source: YaleNews
Women With Endometriosis Also Genetically Predisposed to Depression, Anxiety, and Eating Disorders
The largest epidemiological study to date on the psychiatric factors that can accompany endometriosis has demonstrated that depression, anxiety, and eating disorders are not only a result of the chronic pain endometriosis generates, but also have their own underlying genetic mechanisms.
Yale Program Accepted Into NORD Rare Diseases Centers of Excellence Network
While a single rare disease may only affect a small proportion of the population, as many as 10 percent of Americans live with rare diseases, and most of those 30 million people have limited or no treatments and lack access to expert care. Now, Yale School of Medicine is joining the NORD Rare Disease Centers of Excellence network with a mission to provide better care for patients with large unmet needs.
Jiang lab and FAST fundraisers came together to learn about ongoing research on Angleman
The day-long event on March 31 invited FAST’s top fundraising families, all of whom are parents with children who live with Angelman Syndrome, from across the country to experience firsthand the impacts of their donations — and glimpse the hope on the horizon.
International Angelman Day – February 15
Every year, International Angelman Day (I.A.D.) is observed on February 15 to create awareness about Angelman Syndrome, a neurogenetic disorder affecting chromosome 15 that causes intellectual and developmental delays. Check the website of Angelman Foundation website (https://www.angelman.org/iad/) for more information. FAST (https://cureangelman.org/international-angelman-day) is one of the major donors for our lab research.
Westport family tries to find cure for daughter's rare genetic condition
Dr.Jiang received interview from Ctpost and News12 talking about the HIST1H1E syndrome. Please see the links for the news. Ctpost Westport family tries to find cure for daughter's rare genetic condition (http://bit.ly/3m8vHed) News12 Westport parents create nonprofit to fund research for daughter's rare genetic condition (http://bit.ly/3kDtY0g)
Researchers Demonstrate XBP1 Reduces Severity of Polycystic Kidney Disease
Most families with autosomal dominant polycystic kidney disease (ADPKD) possess a genetic mutation in PKD1, that impacts the protein polycystin-1 (PC1). In a new article published online Friday, October 21, 2022, in the Journal of the American Society of Nephrology, a Yale team led by Stefan Somlo, MD and Sorin Fedeles, PhD, MBA demonstrated that the activation of the transcription factor XBP1 in vivo can improve the residual function of a mutant form of PC1, thereby decreasing the severity of ADPKD.