Archive for genetics and genomics
A new tool could exponentially expand our understanding of bacteria
How do bacteria — harmless ones living in our bodies, or those that cause disease — organize their activities? A new study, combining powerful genomic-scale microscopy with a technical innovation, captured which genes bacteria turn on in different situations and in different spatial environments. The technology, described January 23 in Science, promises to take the ... Read More about A new tool could exponentially expand our understanding of bacteria
Tagged: antibiotics, genetics and genomics, imaging, microbes, microbiome
Phenylketonuria: Giving treatment a second chance
Phenylketonuria (PKU) was once a common cause of intellectual disability. Children born with this metabolic condition lack phenylalanine hydroxylase (PAH), the enzyme needed to break down the amino acid phenylalanine (phe). Instead, phe builds up to levels harmful to the brain. PKU was the original condition tested for when newborn screening was piloted in Massachusetts ... Read More about Phenylketonuria: Giving treatment a second chance
Tagged: genetics and genomics, metabolism, rare disease
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
Changing lives through genetics: The Children’s Rare Disease Collaborative
A 14-year-old girl was having back pain after a car accident and visited an orthopedic clinic at Boston Children’s Hospital. In the course of her care, she joined the Children’s Rare Disease Collaborative (CRDC), a hospital-wide effort to enroll children and adults with rare diseases in genetic studies. Genetic testing revealed that both she and ... Read More about Changing lives through genetics: The Children’s Rare Disease Collaborative
Tagged: diagnostics, genetics and genomics, rare disease, research
Mutations during prenatal development may contribute to schizophrenia
Schizophrenia is known to have a genetic component, and variants in 10 genes have been identified as markedly increasing schizophrenia risk. But together, these genes account for under 5 percent of cases. Now, a pilot study in the journal Science suggests another important contributor to schizophrenia: distinctive patterns of non-inherited (somatic) mutations. These mutations appear ... Read More about Mutations during prenatal development may contribute to schizophrenia
Tagged: genetics and genomics, neuroscience, schizophrenia
Breaking new ground in cerebral cavernous malformation research
Children with cavernous malformations face unique treatment challenges due to factors such as the malformation’s location, size, risk of bleeding, and the complexities of pediatric tissue development. To address these issues effectively, advanced diagnostics and precise interventions are essential. This is why Ed Smith, MD, and the team at the Cerebrovascular Surgery and Interventions Center ... Read More about Breaking new ground in cerebral cavernous malformation research
All in it for Hudson: A family’s shared path with cavernous malformations
Three-year-old Hudson loves trucks and PAW Patrol. He’s a delightful blend of sweet, fun, and feisty, and — after a seizure on New Year’s Day led to an extended stay at Boston Children’s Hospital — he’s an inspiration to his parents, Gabrielle and Matthew. To Matthew specifically, Hudson provides a new look at his own ... Read More about All in it for Hudson: A family’s shared path with cavernous malformations
A new anti-cancer strategy: Overriding tumor edits
Cancers are clever and often find ways to dodge people’s immune systems, making them hard to eradicate. Immunotherapies such as CAR-T cells and checkpoint inhibitors can sharpen the immune system’s attack and cure the cancer. But they don’t work for most solid tumors. We now know that tumors can edit their genes to evade immune ... Read More about A new anti-cancer strategy: Overriding tumor edits
Tagged: cancer, gene editing, genetics and genomics, immunotherapy
Making genome sequencing a first-line test in rare disease
Children with rare diseases often undergo years of medical visits and genetic testing before they get a diagnosis. Over the past few years, clinics have started to embrace exome sequencing as a first genetic test, skipping time-consuming testing of individual genes and gene panels and getting to a diagnosis faster. But exome sequencing doesn’t always ... Read More about Making genome sequencing a first-line test in rare disease
Two rising stars in kidney genetics: Nina Mann and Amar Majmundar
A healthy, functional kidney must maintain a delicate balance of water, nutrients, and electrolytes so it can properly filter the blood and produce urine. That often makes caring for patients with kidney disease an exercise in chemistry and mathematics — an aspect of nephrology that attracted two young physician-scientists. Coming from different paths, Nina Mann, ... Read More about Two rising stars in kidney genetics: Nina Mann and Amar Majmundar