Stories about: genes

Researchers Unlock Genetic Cause for Precocious Puberty

Oftentimes children are cautioned against growing up too quickly; however, researchers may have uncovered a genetic cause for the small subset of boys and girls who physically undergo puberty at uncharacteristically young ages.

Precocious puberty, which is defined by the development of secondary sexual characteristics before 8 years in girls and 9 years in boys, has been associated with an increase in conduct and behavioral disorders during adolescence. The disorder affects more girls than boys, and is becoming more common, although the reasons for this are unclear.

Recently, the media has questioned whether puberty is starting earlier, even in those children without this condition. And a 2011 study by the American Academy of Pediatrics (AAP) followed American girls of various ethnicities, locations and backgrounds, and demonstrated that by 7 years old, more than 10 percent of Caucasian girls and 23 percent of African-American girls showed signs of breast development, indicating that puberty has begun.

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Boston Children’s brings CLARITY to families living with complex diseases

Genome sequencing may help parents of children with rare disease

The future of medicine is closer than you think. Today, scientists are able to learn more than ever about how our genes are likely to affect our health—and the diseases or conditions we may face later in life—thanks to a process known as genome sequencing (in-depth studying of our DNA). And because of technological advances made in recent years, the process has become less expensive, meaning it could soon be an important aspect of everyday care. (A decade ago it cost $3 million to sequence a person’s genes. Today the process runs about $1,000.)

But, as with any emerging technology, genome sequencing is experiencing a few growing pains as it becomes more commonplace.

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A better genetic test for autism

Very high-resolution microarrays such as this one, capable of spotting very small missing or extra pieces of DNA, have only become available within the past few years. Image courtesy of Agilent Technologies.
Very high-resolution microarrays such as this one, capable of spotting very small missing or extra pieces of DNA, have only become available within the past few years. Image courtesy of Agilent Technologies.

The cause of autism spectrum disorders (ASDs), the fastest growing developmental disability in the United States, is still a big mystery. While there’s clearly a genetic component, only 15 percent of people with autism have a known genetic cause. But researchers believe that a much larger percentage of autism can be chalked up to genetics. Now, Children’s Hospital Boston and Autism Consortium researchers have shown that a new genetic test, which samples the whole genome, may work three times better than standard tests.

Families expecting a child who have a family member with an ASD sometimes seek genetic testing to determine whether their baby is at risk.  In a child who’s already affected, genetic testing can explain why the child has autism and let the parents know how likely it is that other children in the family could inherit the genetic risk for autism.

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Children's researchers investigate the genetics of congenital heart disease

stockphotopro_60686087GJQ_baby_and_doctoIt’s a sad fact that congenital heart disease, the most common group of birth defects, affects 35,000 to 40,000 U.S. infants born annually. Currently, most congenital heart defects have no known cause.

But researchers at Children’s Hospital Boston and Brigham and Women’s Hospital hope to change that. They were recently awarded a large, 6-year grant from the National Heart, Lung, and Blood Institute (NHLBI) to probe the genetic causes of congenital heart disease. The $4.19 million grant is part of the Pediatric Cardiac Genomics Consortium (PCGC), which seeks to identify genetic and epigenetic causes of human congenital heart disease and to ultimately find preventive strategies, targets for treatment, and better diagnostic and prognostic information for families.

Although a few genetic causes of congenital heart disease are already known, the researchers hope to zero in on novel, undiscovered genes. Because gene discovery research requires a high number of patient samples, a collaborative consortium such as the PCGC will aid research by allowing scientists to share patient samples, data and technology.

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