Research
Why I’m tall and you’re short: GIANT effort finds rare, potent height genes
Height is the “poster child” of complex genetic traits, meaning that it’s influenced by multiple genetic variants working together. Because height is easy to measure, it’s a relatively simple model for understanding traits produced by not one gene, but many. “Mastering the complex genetics of height may give us a blueprint for studying multifactorial disorders that have ... Read More about Why I’m tall and you’re short: GIANT effort finds rare, potent height genes
Research
Why I’m tall and you’re short: GIANT effort finds rare, potent height genes
Height is the “poster child” of complex genetic traits, meaning that it’s influenced by multiple genetic variants working together. Because height is easy to measure, it’s a relatively simple model for understanding traits produced by not one gene, but many. “Mastering the complex genetics of height may give us a blueprint for studying multifactorial disorders that have ... Read More about Why I’m tall and you’re short: GIANT effort finds rare, potent height genes
Research
Inspired research in newborn lung disease: Stella Kourembanas, MD
Stella Kourembanas in the NICU with Julian (photos: Katherine Cohen) During the NICU rotation of her clinical training, Stella Kourembanas, MD, sat at the bedside of newborn babies with hypoxia. The newborns weren’t getting enough oxygen and were suffering from pulmonary hypertension — abnormally elevated blood pressure in the lung’s blood vessels. What was triggering ... Read More about Inspired research in newborn lung disease: Stella Kourembanas, MD
Research
Entry door for deadly C. difficile toxin suggests new mode of protection
Clostridium difficile, also called “C. diff,” tops the CDC’s list of urgent drug-resistant threats. Marked by severe diarrhea and intestinal inflammation, C. diff has become a leading cause of death from gastrointestinal illness, causing half a million infections a year in the U.S. alone. C. diff flourishes best in hospitals and long-term care facilities where people are on ... Read More about Entry door for deadly C. difficile toxin suggests new mode of protection
Clinical Care
Startup uses Uber to get patients to their medical appointments
Getting to the doctor will soon get easier for some struggling patients. Boston Children’s Hospital has joined forces with the ride-hailing service Uber to pilot a non-emergency medical transportation platform. The online, HIPAA-compliant tool, called Circulation, connects with health care information systems, enabling hospitals to schedule Uber rides for patients. The pilot will serve Boston Children’s, Mercy Health ... Read More about Startup uses Uber to get patients to their medical appointments
Research
Keeping up with HIV mutations: Building a nimble vaccine test system
An AIDS vaccine able to fight any HIV strain has thus far eluded science. HIV frequently mutates its coat protein, dodging vaccine makers’ efforts to elicit sufficiently broadly neutralizing antibodies. Yet sometimes HIV-infected people can produce such antibodies on their own. This usually requires years of exposure to the virus, allowing the immune system to modify ... Read More about Keeping up with HIV mutations: Building a nimble vaccine test system
Research
BCL11A-based gene therapy for sickle cell disease passes key preclinical test
Research going back to the 1980s has shown that sickle cell disease is milder in people whose red blood cells carry a fetal form of hemoglobin. The healthy fetal hemoglobin compensates for the mutated “adult” hemoglobin that makes red blood cells stiffen and assume the classic “sickle” shape. Normally, fetal hemoglobin production tails off after birth, shut ... Read More about BCL11A-based gene therapy for sickle cell disease passes key preclinical test
Research
Drug-eluting contact lens offers hope in glaucoma
Daily medicated eye drops are the first line of treatment for glaucoma, the leading cause of irreversible blindness. The drops relieve pressure in the eye, a significant risk factor for glaucoma. But they’re not ideal: their delivery is imprecise, they can cause stinging and burning and patients often struggle to administer them. Adherence is poor: ... Read More about Drug-eluting contact lens offers hope in glaucoma
Clinical Care
Using newborns’ own umbilical cords as shunts for heart surgery
Cardiac surgery is reducing the use of plastic — starting with an operation for newborns who have life-threatening heart disease generally called single ventricle. Single ventricle is so dangerous because it means only one of the heart’s two ventricles can adequately pump blood. Typically, affected infants undergo open-heart surgery to receive a Blalock shunt, which ... Read More about Using newborns’ own umbilical cords as shunts for heart surgery
Research
Acetaminophen does not aggravate young children’s asthma
Your toddler is screaming in pain. Her forehead is burning. You rush to your local drugstore. What do you get — Tylenol or Motrin? And by the way, she also has asthma. Recently, many parents have been under the impression that acetaminophen (Tylenol, etc.) may do more harm than good in young children with asthma. ... Read More about Acetaminophen does not aggravate young children’s asthma