Genetic risk factors for PCOS act independently of ovarian function
It’s estimated that as many as 10 percent of women have polycystic ovary syndrome (PCOS), a hormonal condition that produces symptoms such as infertility, irregular menstrual periods, and excessive body hair growth. Women with PCOS are also at increased risk for cardiometabolic dysfunction, as evidenced by insulin resistance and obesity. Yet, despite extensive studies of PCOS, ... Read More about Genetic risk factors for PCOS act independently of ovarian function
Real-time genomic surveillance of bacteria could improve antibiotic therapy
Antibiotic-resistant bacterial infections are increasingly hard to treat, causing more than a million deaths annually around the world. Hospitalized patients with pneumonia, bloodstream infections, urinary tract infections, or abdominal infections are especially at risk. Like a game of Whac-A-Mole, bacteria can develop antibiotic resistance mutations within days of starting an antibiotic, only to be replaced ... Read More about Real-time genomic surveillance of bacteria could improve antibiotic therapy
Sudden, unexplained child deaths often have a genetic cause
When a baby or toddler dies without warning, parents often blame themselves. A study at Boston Children’s may provide some insight into sudden, unexplained child deaths and perhaps a measure of closure. It suggests that at least 10 percent of children who die suddenly have an undiagnosed genetic condition that caused or contributed to their ... Read More about Sudden, unexplained child deaths often have a genetic cause
To do more for Gwyneth: One family’s journey with Rett syndrome
When Florida couple Melissa and Nick welcomed their daughters, McKinley and Gwyneth, in October 2017, the first-time parents knew to expect the unexpected with parenthood. Nonetheless, they couldn’t help but envision their daughters’ futures: learning to walk, talk, and drive, then eventually going to college, falling in love, getting married, and having kids. And Melissa ... Read More about To do more for Gwyneth: One family’s journey with Rett syndrome
A clinical trial aims to reduce complications in life-saving lung and heart treatment
Extracorporeal membrane oxygenation (ECMO) can be lifesaving for critically ill children with severe lung and heart failure who are not responsive to conventional treatments. This approach takes over the work of those vital organs, enabling patients to rest and recover. It transfers blood from the body into a pump-and-oxygenator machine, where blood is oxygenated and carbon ... Read More about A clinical trial aims to reduce complications in life-saving lung and heart treatment
Sickle cell disease, gene therapy, and blood cancers: Mysteries remain
Gene therapy trials for sickle cell disease have been showing great promise, even offering hope of a cure. But in early 2021, the trials ground to a halt after reports of blood malignancies in two people in a trial sponsored by bluebird bio. Investigations later concluded that the gene therapy delivery vectors were likely not ... Read More about Sickle cell disease, gene therapy, and blood cancers: Mysteries remain
Joining the fight against COVID: Women scientists at Boston Children’s are leading the way
When the COVID-19 pandemic hit in 2020, many women scientists around Boston Children’s pivoted to studying the new coronavirus and its effects. Today on the International Day of Women and Girls in Science, they offer their wisdom and advice on going into science, why they chose to do research on COVID-19, and the challenges they’ve ... Read More about Joining the fight against COVID: Women scientists at Boston Children’s are leading the way
Charting a new path for pediatric thyroid cancer treatment
Thyroid cancer is the most common type of endocrine cancer in children. Because it is bilateral — affecting both sides (lobes) of the thyroid — in more than one third of pediatric patients, initial treatment typically involves a total thyroidectomy, the surgical removal of the entire thyroid gland. However, removal of only the affected lobe — a lobectomy ... Read More about Charting a new path for pediatric thyroid cancer treatment
A respiratory model of COVID-19, made from patients’ own cells
What happens in our respiratory tract once COVID-19 invades? A three-dimensional airway model, made from patient-derived stem cells, could provide answers about the initial stages of infection. The model not only replicates the infection process, but can be used to test potential antiviral drugs. Ruby Wang, MD, attending physician in Boston Children’s Division of Pulmonary ... Read More about A respiratory model of COVID-19, made from patients’ own cells
Shaping our intestinal microbiome: What makes certain microbes more ‘fit’?
We now know the microbes that live in our intestines — often called our microbiome — influence our health in many ways. The balance among competing microbial species is believed to contribute to inflammatory bowel disease (IBD), immune disorders, food allergy, neurodegenerative diseases, cancer, and more. The sugars in our diets, in turn, influence that ... Read More about Shaping our intestinal microbiome: What makes certain microbes more ‘fit’?