Archive for genetics and genomics
Taking a sideswipe at high-risk neuroblastoma
Cancer and other diseases are now understood to spring from a complex interplay of biological factors rather than any one isolated origin. New research reveals that an equally-nuanced approach to treating high-risk neuroblastoma may be the most effective way to curb tumor growth. One challenge in treating pediatric cancers like neuroblastoma is that they are ... Read More about Taking a sideswipe at high-risk neuroblastoma
Botulism toxin X: Time to update the textbooks, thanks to genomic sequencing
Botulism is a rare, potentially fatal paralyzing illness. It’s the reason we shouldn’t feed infants honey and why we need to take care in consuming home-canned foods: they can potentially contain nerve-damaging toxins produced by Clostridium botulinum. Botulinum toxin is classified as one of the six most dangerous potential bioterrorism agents. There are seven known ... Read More about Botulism toxin X: Time to update the textbooks, thanks to genomic sequencing
Seeking a way to keep organs young
The wear and tear of life takes a cumulative toll on our bodies. Our organs gradually stiffen through fibrosis, which is a process that deposits tough collagen in our body tissue. Fibrosis happens little by little, each time we experience illness or injury. Eventually, this causes our health to decline. “As we age, we typically accumulate ... Read More about Seeking a way to keep organs young
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