Yale Geneticist With Rare Disease to Build Pediatric Cell Atlas of Skeletal Muscle
A $3 million grant from the Chan Zuckerberg Initiative, awarded to a team of researchers led by Monkol Lek, PhD, assistant professor of genetics at Yale, will support Lek and his team in creating a Pediatric Cell Atlas of Skeletal Muscle — a roadmap of healthy skeletal cells and how they change at four key age group milestones between the ages of zero and 18 years.
Strategies to accelerate diagnosis and treatment of rare cardiovascular diseases
The current landscape for patients with rare cardiovascular disease has shifted. Using genome sequencing Yale physician-scientists have begun to elucidate the pathophysiology of genetic disorders and develop treatment guidelines and recommendations.
Major Gift Will Support an Innovative Brain Research Collaboration
The Swiss-based NOMIS Foundation is making a large five-year award for research into what makes the human brain unique. The research will be a collaboration between the laboratories of James P. Noonan, PhD, associate professor of genetics and of neuroscience at Yale School of Medicine, and Franck Polleux, PhD, professor of neuroscience at Columbia University and a member of that school’s Zuckerman Institute. Their combined mission is to understand the brain and mind.
Yale Launches Comprehensive DNA Sequencing Project, With Aim of Predicting, Preventing, and Treating Gene-related Diseases
Generations, a collaboration between Yale School of Medicine and Yale New Haven Health System, is one of the largest DNA sequencing projects of its kind in the United States.
Women’s Health Research at Yale funds studies on pain relief, cannabis, and genetic origins of sex differences in disease
Women’s Health Research at Yale (WHRY) today announced funding for first-of-their-kind studies on pain relief, cannabis, and the genetic basis of sex differences across a broad range of ailments, including Alzheimer’s disease and heart disease.
Yale Study Identifies How Cancer Drug Inhibits DNA Repair in Cancer Cells
Yale Cancer Center researchers have found that a cancer drug thought to be of limited use possesses an unforeseen property. It is able to stop certain cancer cells from repairing their DNA in order to survive. The study suggests that combining this drug, cediranib, with other agents could potentially deliver a lethal blow in cancer that uses a specific process to create DNA repair cells.
Scientists Restore Some Functions in a Pig’s Brain Hours After Death
Circulation and cellular activity were restored in a pig’s brain four hours after its death, a finding that challenges long-held assumptions about the timing and irreversible nature of the cessation of some brain functions after death, Yale scientists report in the journal Nature.
New Tool Helps Find Genetic Culprits in Cancer’s Spread
The ability of cancer to establish itself in distant parts of the body — called metastasis — causes 90% of deaths from solid tumors. Metastasis is the result of complex genetic interactions that have proven difficult for scientists to study. Now Yale researchers have devised a way to identify some of the most dangerous of those interactions.
Happy in Marriage? Genetics May Play a Role
People fall in love for many reasons — similar interests, physical attraction, and shared values among them. But if they marry and stay together, their long-term happiness may depend on their individual genes or those of their spouse, says a new study led by Yale School of Public Health researchers.
In the Developing Brain, Scientists Find Roots of Neuropsychiatric Diseases
The most comprehensive genomic analysis of the human brain ever undertaken has revealed new insights into the changes it undergoes through development, how it varies among individuals, and the roots of neuropsychiatric illnesses such as autism spectrum disorders and schizophrenia.
Eight of ten with cancer risk genes don’t know it
A genomic screening approach of more than 50,000 people shows that more than 80 percent of those who carry an identifiable genetic risk for breast, ovarian, prostate, and pancreatic cancer don’t know it despite frequent interaction with the healthcare system.
Discovery may help provide clues for fighting and treating HPV
Yale Cancer Center (YCC) scientists have filled in a key gap in understanding the unusual route by which the Human papillomavirus (HPV) infects cells. Their findings, published online today in the journal Cell, may eventually help to broaden the scope of defenses against HPV and provide valuable clues for delivering drugs into cells. HPV is a family of killers. Although there are effective vaccines against these viruses, they still cause about 5% of cancer deaths worldwide, including more than 250,000 women who die of cervical cancer each year.
Marriage of imaging and genetics opens new view of brain function
Neuroimaging has revolutionized the study of the brain, but can provide no information about what is actually happening at molecular level in humans. Scientists at Yale have developed new approaches to link gene expression patterns to brain signals captured by imaging.
Broad genetic testing for advanced lung cancer may not improve survival
Testing for dozens of genetic mutations in tumors of patients with a common form of advanced lung cancer did not appear to improve survival compared to routine genetic testing, a study led by Yale Cancer Center (YCC) scientists has found.
Yale Cancer Researchers Suggest New Treatment for Rare Inherited Cancer
Studying two rare inherited cancer syndromes, Yale Cancer Center (YCC) scientists have found the cancers are driven by a breakdown in how cells repair their DNA. The discovery, published today in Nature Genetics, suggests a promising strategy for treatment with drugs recently approved for other forms of cancer.
Psychiatric disorders share an underlying genetic basis
Thomas Fernandez, MD, Assistant Professor in the Child Study Center and of Psychiatry, and Christopher Pittenger, MD, PhD, Associate Professor of Psychiatry, contributed to a paper published in Science that explores the genetic connections between disorders of the brain at a scale that far eclipses previous work on the subject.