Archive for precision medicine
Mapping cells to create targeted treatments for interstitial lung disease
John Kennedy, MD, MSc, remembers the relative simplicity of his first genetic mapping project. In a Harvard Medical School lab, he helped map a gene for the neurological disease mucolipidosis type IV in less than a year. “I was fresh out of college. I thought with the global momentum of the Human Genome Project, we were going to ... Read More about Mapping cells to create targeted treatments for interstitial lung disease
The genetics of height: Coming close to cracking the code
More than 20 years ago, as a pediatric endocrinology fellow at Boston Children’s, Joel Hirschhorn, MD, PhD, saw many children with unusually short stature, and would often tell parents that their child was growing slowly because of genetic factors. But no height-related genes had yet been identified — in fact, scientists believed there were so ... Read More about The genetics of height: Coming close to cracking the code
Genomic ‘fingerprinting’ yields better treatments for pediatric solid cancers
Genomic profiling is increasingly used for solid tumors in adults and for pediatric brain tumors and blood cancers, allowing treatments to be matched to patients’ mutations. But for children with solid tumors, genomic fingerprinting has been elusive, because these cancers are so varied and individually so rare. Therapies therefore remain non-specific: chemotherapy, surgery, and/or radiation. ... Read More about Genomic ‘fingerprinting’ yields better treatments for pediatric solid cancers
Targeting treatments for vascular anomalies, courtesy of cancer genetics
Vascular anomalies — overgrowths or malformations of the capillaries, veins, arteries, and/or lymphatic vessels — often confound physicians, especially in acute settings. They encompass a diverse group of conditions, all of them rare, and can affect multiple body systems. Many physicians have never encountered vascular anomalies and may be unaware of the risks they sometimes ... Read More about Targeting treatments for vascular anomalies, courtesy of cancer genetics
Rethinking the origins of cerebral palsy
Cerebral palsy (CP) has widely been viewed as the result of perinatal oxygen deprivation or other birth-related factors like prematurity. For many children, this is true. But new work from Boston Children’s finds that up to 1 in 4 have an underlying genetic condition with the potential to change the approach to their care. Findings ... Read More about Rethinking the origins of cerebral palsy
It takes a village: Creating best practices for personalized treatments
In 2019, doctors and scientists at Boston Children’s Hospital announced a medical landmark. In the space of one year, a team led by Timothy Yu, MD, PhD, pinpointed a one-of-a-kind genetic mutation in a girl named Mila with Batten disease, developed a custom drug called milasen to repair the mutation, and treated Mila with it. ... Read More about It takes a village: Creating best practices for personalized treatments
Trial for severe asthma targets a mutation common in children of color
Children and adults of color have higher rates of asthma than white people, as well as more hospitalizations and deaths. There are many reasons for this disparity, including more exposure to allergens and pollutants and differences in asthma care. One difference, however, is genetic. A mutation that causes severe, hard-to-treat asthma, in the gene ILR4, ... Read More about Trial for severe asthma targets a mutation common in children of color
Made-to-order therapies get a boost with new FDA guidelines
Ed. note: Mila passed away in February, 2021, at age 10. The Mila’s Miracle Foundation continues to work to pave a pathway for personalized treatments. 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 ... Read More about Made-to-order therapies get a boost with new FDA guidelines
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 about Missed signals? A new way we vary from each other biologically
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 about Going ‘all in’ for Khori: New hope for congenital enteropathy