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
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
Opioid alternative? Taming tetrodotoxin for precise painkilling
Opioids remain a mainstay of treatment for chronic and surgical pain, despite their side effects and risk for addiction and overdose. While conventional local anesthetics block pain very effectively, they wear off quickly and can affect the heart and brain. Now, a study in rats offers up a possible alternative, involving an otherwise lethal pufferfish ... Read More about Opioid alternative? Taming tetrodotoxin for precise painkilling
Sweet! How C. difficile toxin A enters intestinal cells
Clostridiodes difficile infection has become a leading cause of severe, sometimes fatal diarrheal illness. It flourishes best in hospitals and long-term care facilities where people are on long-term antibiotic treatment, but it’s also an increasing problem in the community. Much of the damage from C. diff is caused by toxins the bacterium produces, which damage ... Read More about Sweet! How C. difficile toxin A enters intestinal cells
A rare kidney tumor’s vulnerability, and a potential treatment
Andrew Hong, MD, a pediatric oncologist at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, has cared for a number of children who develop unusual, aggressive cancers. One teenager with a deadly kidney cancer called renal medullary carcinoma (RMC) left a particularly deep impression on him and his colleagues. “Seeing how quickly this patient succumbed to the disease ... Read More about A rare kidney tumor’s vulnerability, and a potential treatment
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
Children wait for new cancer drugs 6.5 years longer than adults
A 20-year analysis finds that FDA-approved cancer drugs took a median of 6.5 years to go from the first clinical trial in adults to the first trial in children. That’s not good enough for researchers at Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, who are calling for expanding children’s access to experimental cancer therapies. “It’s ... Read More about Children wait for new cancer drugs 6.5 years longer than adults
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?
Hidden part of flu virus yields hope for better vaccines
The annual effort to create a flu vaccine is like a high-stakes game of Whack-a-mole. Even if public health officials develop a vaccine that offers wide protection, the ever-changing influenza virus pops up again the next year in a new guise, often different enough to thwart the body’s defenses. And while most people recover, influenza ... Read More about Hidden part of flu virus yields hope for better vaccines
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