Archive for genetics and genomics
Optimized CRISPR/Cas9 gene editing averts hearing loss in ‘Beethoven’ mice
Using a novel gene-editing approach, scientists at Boston Children’s Hospital and Harvard Medical School have salvaged hearing in a mouse model of hereditary deafness, with no apparent off-target effects. The system successfully identified a single misspelled “letter” in the defective copy of a gene required for hearing, disabled this aberrant copy, and spared the healthy ... Read More about Optimized CRISPR/Cas9 gene editing averts hearing loss in ‘Beethoven’ mice
Rare recessive mutations pry open new windows on autism
Over the past decade, autism spectrum disorder has been linked to mutations in a variety of genes, explaining up to 30 percent of all cases to date. Most of these variants are de novo mutations, which are not inherited, affect just one copy of a gene, and are relatively easy to find. The lab of ... Read More about Rare recessive mutations pry open new windows on autism
Panel urges new genetic test for neurodevelopmental disorders
An international group of doctors and scientists, led by Boston Children’s Hospital, is urging the medical community to embrace — and health insurers to pay for — a new genetic technology as a first-line test for autism and other disorders affecting the development of the brain and nervous system. In a paper published last week ... Read More about Panel urges new genetic test for neurodevelopmental disorders
New genetic test yields answer after family’s 10-year search
Kate Cole knew her daughter Lilly was different almost from the moment of birth. She was “a floppy baby,” lacking the strength and muscle tone her older sister had. She had trouble eating and was slow to gain weight. When she started on solid food, she often choked on it. She never really crawled and ... Read More about New genetic test yields answer after family’s 10-year search
Genetics drive deep investigations into blood cell production
Knowing how different kinds of blood cells form from their stem cell progenitors can shed light on blood disorders and aid in finding new treatments. A series of recent studies co-led by researchers at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center applied a variety of genetic tools to provide new insights on blood cell production. ... Read More about Genetics drive deep investigations into blood cell production
Huge sequencing study links rare DNA changes to type 2 diabetes
Type 2 diabetes is a complicated disease influenced by genetics, lifestyle, and environment. Now, an international consortium of scientists has uncovered some previously unknown genetic factors — which could potentially aid the search for better treatments. The researchers sequenced the exomes — all the protein-coding genes — of roughly 21,000 people with type 2 diabetes ... Read More about Huge sequencing study links rare DNA changes to type 2 diabetes
After GWAS studies, how to narrow the search for genes?
Genome-wide association studies (GWAS) look at large populations to find genes that contribute to common, multi-gene traits like height or obesity. These comprehensive investigations frequently turn up large numbers of tiny genetic variations that show up more often in people who are tall, obese, etc. But this association doesn’t mean the variant actually helps cause ... Read More about After GWAS studies, how to narrow the search for genes?
Matt and Brendan: Post-op pals, for life
Eighteen-year-old Matt Freitas and 16-year-old Brendan Cogavin met as roommates at Boston Children’s Hospital, but that’s just a small part of why they’ve stayed in touch for the six years since. “Their relationship goes beyond knowing each other at their worst,” says Melissa, Matt’s mom. “Brendan is cool, smart, and tries hard at everything he ... Read More about Matt and Brendan: Post-op pals, for life
Solving genetic mysteries – in the NICU and beyond
A growing number of children with suspected genetic disorders are having their complete exomes sequenced, since it’s now often faster and cheaper to sequence all the protein-coding genes at once rather than test limited groups of genes. But even after whole-exome sequencing, 70 to 75 percent of children come away without a genetic explanation for ... Read More about Solving genetic mysteries – in the NICU and beyond
ctDNA: Bringing ‘liquid biopsies’ to pediatric solid tumors
Our blood carries tiny amounts of DNA from broken-up cells. If we have cancer, some of that DNA comes from tumor cells. Studies performed with adult cancers have shown that this circulating tumor DNA (ctDNA) may offer crucial clues about tumor genetic mutations and how tumors respond to treatment. Brian Crompton, MD, with colleagues at ... Read More about ctDNA: Bringing ‘liquid biopsies’ to pediatric solid tumors