Archive for genetics and genomics
Made-to-order therapies get a boost with new FDA guidelines
Science-based treatments for rare genetic diseases have burgeoned in the past decade. That includes diseases so rare they affect just a handful of patients — or in some cases, just one. In 2017, researchers at Boston Children’s Hospital made history, creating a customized drug for a girl named Mila with Batten disease. The drug blocked ... Read More
After decades of evolution, gene therapy arrives
As early as the 1960s, scientists speculated that DNA sequences could be introduced into patients’ cells to cure genetic disorders. In the early 1980s, David Williams, MD, and David Nathan, MD, at Boston Children’s Hospital published the first paper showing one could use a virus to insert genes into blood-forming stem cells. In 2003, the ... Read More
How does the placenta protect unborn babies from COVID-19?
Evidence has shown that pregnancy is a risk factor for severe illness in women with COVID-19. A recent CDC study reviewed case reports of approximately 400,000 women aged 15 to 44 with symptomatic COVID-19. Those who were pregnant had a roughly tripled likelihood of ICU admission and invasive ventilation and 70 percent higher mortality. Yet ... Read More
Missed signals? A new way we vary from each other biologically
Genetics has made huge strides over the past 20 years, from the sequencing of the human genome to a growing understanding of factors that turn genes on and off, namely transcription factors and the DNA “enhancer” sequences they bind to. New research from Boston Children’s Hospital introduces another previously unknown layer of human genetics. It ... Read More
Going ‘all in’ for Khori: New hope for congenital enteropathy
Khori LeBlanc is “one of the sassiest and sweetest kids you’ll ever meet,” says her mom, Bryanna Black. Her good mood even carries over to her many hospital visits, where she can be often be found practicing her “karate” moves on the way to an appointment. It’s a resilient attitude that has served her well ... Read More
Why do some children exposed to the coronavirus go on to develop MIS-C?
Most children exposed to the SARS-CoV-2 coronavirus have few or no symptoms. But a small number become sick enough to go to the hospital. And a tiny handful develop a severe inflammatory illness called multisystem inflammatory syndrome (MIS-C), often weeks after initial exposure to the virus. Why? A team at Boston Children’s Hospital is using ... Read More
Too many blood cells: Probing a blood cancer’s genetic origins
At age 7, Meredith Shah began having debilitating migraine headaches. “I would have trouble seeing and shapes were blurry,” she recalls. “It was really painful.” Over time, the frequency and intensity of the headaches escalated. Her parents, Heidi and Nil, sought the help of multiple specialists. But they received few answers, other than an indication ... Read More
Coordinated care and research for genetic cardiovascular disorders
Genetic cardiovascular disease in children sometimes comes to light in a crisis — a sudden collapse, sudden breathing difficulty, a sudden death in the family. Or it may be part of a diverse collection of symptoms, mostly having nothing to do with the heart. Sometimes it is picked up incidentally. “From an incidental ECG finding ... Read More
Gene therapy’s future may be all about the bases
Gene therapy offers the possibility of a cure for many genetic disorders, especially those involving a single gene. The first kind of gene therapy used a virus to carry a corrected copy of the gene into people’s cells. When the early viral vectors used in the 1990s were found to have off-target effects, sometimes even ... Read More
A master regulator of kidney health?
End-stage kidney disease often begins with injury to podocytes. These highly specialized cells are a critical part of the glomeruli, clusters of capillaries that serve as the filtration units in our kidneys’ tightly-packed nephrons. As their name suggests, podocytes extend tiny foot processes to intermingle with the capillaries and filter the blood, maintaining the proper ... Read More