Archive for genetics and genomics
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
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
Genome editing: A CRISPR way to correct disease
Technology sometimes unfolds at a slow, measured pace and sometimes at lightning speed. Right now, we are witnessing what is arguably one of the fastest moving fields in biomedical science: a form of genome editing aptly known as CRISPR. CRISPR allows researchers to make very precise—some would say crisp—changes to the genomes of human cells ... Read More about Genome editing: A CRISPR way to correct disease
Stem cell medicine gets a “roadmap” and a quality assurance tool
If you’ve lost your way on the Boston subway, you need only consult a map to find the best route to your destination. Now stem cell engineers have a similar map to guide the making of cells and tissues for disease modeling, drug testing and regenerative medicine. It’s a computer algorithm known as CellNet. As ... Read More about Stem cell medicine gets a “roadmap” and a quality assurance tool
Solving medical mysteries: The Undiagnosed Disease Network
At first, Corrie and Adam Mendes thought their daughter Emmie had an inner ear problem. She was late with several early milestones, including walking, and when she did walk, she often lost her balance. The family pediatrician sent them to a neurologist, who ordered a brain MRI and diagnosed her with pachygyria, a rare condition ... Read More about Solving medical mysteries: The Undiagnosed Disease Network
Pharmacogenomics: One size doesn’t fit all
In 2009, The New England Journal of Medicine reported the case of an otherwise healthy 2-year-old boy in Canada who died after surgery. He had received a codeine dose in the recommended range, but an autopsy revealed that morphine (a product of codeine metabolism) had built up to toxic levels in his blood and likely depressed his ... Read More about Pharmacogenomics: One size doesn’t fit all
How things work: Scientists find cellular channels vital for hearing
Ending a 30-year search by scientists, researchers have identified two proteins in the inner ear that are critical for hearing, which, when damaged by genetic mutations, cause a form of delayed, progressive hearing loss. The proteins are essentially transducers: They form channels that convert mechanical sound waves entering the inner ear into electrical signals that ... Read More about How things work: Scientists find cellular channels vital for hearing
Inherited autism mutations found via genomic sequencing in Mideast families
Autism clearly runs in some families, yet few inherited genetic causes have been found. A major reason is that these causes are so varied that it’s hard to find enough people with a given mutation to establish a clear pattern. Now, three large Middle Eastern families with autism spectrum disorders (ASDs) have led the way ... Read More about Inherited autism mutations found via genomic sequencing in Mideast families
Pediatric complex care: A day in the life
This is the first post of a two-part series on children with complex medical needs. Details on some patients have been changed for privacy reasons. This morning, as every morning, the Complex Care Service (CCS) team huddles in a tiny office deep inside Boston Children’s Hospital. They have 14 patients to discuss, each with a ... Read More about Pediatric complex care: A day in the life
Not all brain tumors are made the same, and that’s important
When you look at an apple, no matter what variety, on the surface you can be pretty sure it’s actually an apple. From there, you can make lots of assumptions about it, like how it will taste when you bite into it and what will happen if you plant the seeds in your yard. With ... Read More about Not all brain tumors are made the same, and that’s important