Archive for genetics and genomics
Endocrine-oncology treatment helps teen with rare genetic condition
Felicia Walbridge has long been interested in biomedical engineering and plans on majoring in the field during college. Until recently, the teenager’s experience in this area was limited primarily to reruns of the TV show “Grey’s Anatomy.” Then, with little warning, Walbridge became the star of her very own medical drama — complete with a ... Read More about Endocrine-oncology treatment helps teen with rare genetic condition
Presidential awardee explores epigenetics via slime molds, worms, and more
Pretty much all of your cells have the same DNA code. Yet they come in an astonishing number of forms. Some cells contract so that your heart can beat or your muscles flex. Others have jobs in your immune system, tuned to recognize different threats. And cells can change their behavior, altering their metabolism for ... Read More about Presidential awardee explores epigenetics via slime molds, worms, and more
Single-cell sequencing reveals glioblastoma’s shape-shifting nature
Glioblastoma, a cancer that arises in the brain’s supporting glial cells, is one of the worst diagnoses a child can receive. The grade IV, highly malignant tumor aggressively infiltrates healthy brain tissue, and most children die of the disease within one to two years of diagnosis, similar to adults. “The current approach is surgical removal, ... Read More about Single-cell sequencing reveals glioblastoma’s shape-shifting nature
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?