Stories about: whole exome sequencing

Discovering a rare anemia in time to save an infant’s life

Illustration of the erythropoietin hormone. A newly-discovered genetic mutation, which switches one amino acid in EPO's structure, resulted in two cases of rare anemia.
An illustration showing the structure of a cell-signaling cytokine called erythropoietin (EPO). It has long been thought that when EPO binds with its receptor, EPOR, it functions like an on/off switch, triggering red blood cell production. New findings suggest that this process is more nuanced than previously thought; even slight variations to cytokines like EPO can cause disease.

While researching a rare blood disorder called Diamond-Blackfan anemia, scientists stumbled upon an even rarer anemia caused by a previously-unknown genetic mutation. During their investigation, the team of scientists — from the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, the Broad Institute of Harvard and MIT and Yale University — had the relatively unusual opportunity to develop an “on-the-fly” therapy.

As they analyzed the genes of one boy who had died from the newly-discovered blood disorder, the team’s findings allowed them to help save the life of his infant sister, who was also born with the same genetic mutation. The results were recently reported in Cell.

“We had a unique opportunity here to do research, and turn it back to a patient right away,” says Vijay Sankaran, MD, PhD, the paper’s co-corresponding author and a principal investigator at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. “It’s incredibly rewarding to be able to bring research full circle to impact a patient’s life.”

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BabySeq: Early results of newborn genomic sequencing are mixed

BabySeq
While a previous study indicated parents were very interested in newborn sequencing, just 7 percent of those approached have enrolled in BabySeq so far.

It seems like a great idea. We all have our genomes sequenced at birth, and any findings that suggest a future medical problem are addressed with early interventions, optimizing our health and extending our lives. But are parents of newborns ready to embrace the vision? Yes and no, according to interim results of a first-of-its-kind randomized trial of newborn sequencing. Findings from what’s known as the BabySeq Project were presented last week at the American Society of Human Genetics (ASHG) 2016 Annual Meeting.

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Dads to blame? Genetic research reveals cause for precocious puberty

Whole-exome sequencing reveals a gene mutation that comes into play only if inherited from the father.
Whole-exome sequencing reveals a gene mutation that comes into play only if inherited from the father.

For a small subset of boys and girls who undergo early puberty, there’s now a specific explanation. New genetic research, involving whole-exome sequencing, has identified four novel heterozygous mutations in a gene known as MKRN3. Interestingly, while precocious puberty is more common in girls, all 15 affected children in the study inherited the mutations from their fathers.

Precocious puberty—the development of secondary sexual characteristics before 8 years in girls and 9 years in boys—has been associated with short stature, long-term health risks and an increase in conduct and behavioral disorders during adolescence. Physiologically, there are two types: central and peripheral. Central, the more common form, occurs when the pituitary gland, which controls puberty development, is activated too early.

“While a great deal of genetic studies have focused on the overall genetic contribution to pubertal timing, far less research has been conducted to find specific genetic causes of central precocious puberty,” says Andrew Dauber, MD, MMSc, of the Division of Endocrinology at Boston Children’s Hospital, who co-authored the study, published online this week by The New England Journal of Medicine.

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