Archive for precision medicine
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
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
Precision chemo-immunotherapy for pancreatic cancer?
Pancreatic cancer is highly lethal and in great need of better treatments. Only about 10 percent of patients remain alive five years after diagnosis. In a new study, researchers in the lab of Marsha Moses, PhD, at Boston Children’s Hospital offer a glimmer of hope. Key takeaway An antibody-drug combination effectively targeted, penetrated, and shrank ... Read More
Against all odds: Mila’s unique mutation, and her own custom drug
As a baby and toddler, Mila was healthy, active, and — in some ways — even advanced for her age. She began speaking before she turned 1, went skiing for the first time at age 2, and was a fearless climber on furniture and rock walls. However, after she turned 3, Mila developed a strange ... Read More
Shooting for the moon: From diagnosis to custom drug, in one year
One weekend in January 2017, Timothy Yu, MD, PhD, was relaxing at home when his wife said, “Hey Tim, will you look at this post on Facebook? This might be something you’d be interested in.” Doctors had just diagnosed a young girl named Mila in Colorado with Batten disease, a rare and fatal neurodegenerative disorder. ... Read More
Small samples, big data: A systems-biology look at a newborn’s first week of life
The first week of a baby’s life is a time of rapid biological change. The newborn must adapt to living outside the womb, suddenly exposed to new bacteria and viruses. Yet scientists know surprisingly little about these early changes. Reporting in Nature Communications, an international research team provides the most detailed accounting to date of the ... Read More
Typing medulloblastoma: From RNA to proteomics and phospho-proteomics
Medulloblastoma is one of the most common pediatric brain tumors, accounting for nearly 10 percent of cases. It occurs in the cerebellum, a complex part of the brain that controls balance, coordination and motor function and regulates verbal expression and emotional modulation. While overall survival rates are high, current therapies can be toxic and cause secondary ... Read More
Precision medicine for end-stage kidney failure? 40 percent of kids needing transplants have identifiable mutations
In adults, end-stage renal disease, or ESRD, is most commonly a complication of diabetes or hypertension. In children, teens and young adults, it’s a different picture entirely. New research finds that more than half of people needing a kidney transplant before age 25 have a congenital anomaly of the kidney or urinary tract, and that ... Read More
Families and data scientists build insights on Phelan-McDermid syndrome
This is the third year that Jacob Works has made the trip down to Boston Children’s Hospital from Maine. With research assistant Haley Medeiros, he looks at pictures, answers questions, manipulates blocks and mimes actions like knocking on a door. His father, Travis, and another research assistant look on through a window. “At first, we ... Read More