Sentences with phrase «single gene syndromes»

Not exact matches

Now a single gene is providing some answers, which should lead to a better understanding of sudden infant death syndrome and sleep apnoea, for example.

When the researchers compared the mRNA to a library of DNA sequences taken from the dendrites of neurons by James Eberwine of the University of Pennsylvania Medical Center, they found that it came from a single gene on chromosome X — the human version of which, when mutated, leads to fragile - X syndrome.

In Angelman's syndrome a child receives two copies of genes on chromosome 15 from his or her father, and a single inactivated copy of those genes from his or her mother.

About 10 to 15 percent of people with autism have a disorder linked to a known single - gene mutation, such as fragile X syndrome, or chromosomal alterations.

Allan - Herndon - Dudley syndrome is caused by defects to a single gene that controls the flow of thyroid hormone to the brain.

«This is an important finding that will help future researchers, and eventually physicians, to maximize the effectiveness of gene therapy for curtailing sensory deficits associated with USH3 syndrome and, perhaps, in other disorders linked to defects in single genes,» said Alagramam.

FMRP is also the protein that is missing in Fragile X Syndrome, the leading single - gene cause of autism and intellectual disability.

Approximately 3 percent of children born in the United States have a birth defect, either due to chromosomal anomalies, single - gene syndromes, or another cause.

Semenza's team uncovered the mitochondrial mechanism in a study of Von Hippel - Lindau (VHL) syndrome, caused by a single gene mutation and characterized by the tendency to develop tumors in many parts of the body, including the kidney, brain and adrenal glands.

Dr. Shendure's research group in Seattle pioneered exome sequencing and its earliest applications to gene discovery for Mendelian disorders (e.g. Miller and Kabuki syndrome) and autism; cell - free DNA diagnostics for cancer and reproductive medicine; massively parallel reporter assays and saturation genome editing; whole organism lineage tracing; and massively parallel molecular profiling of single cells.