Stories about: genetics

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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Do I have the strength to be a marathon parent?

Riley

Riley Cerabona is a Boston Children’s Hospital patient with a rare vascular anomaly syndrome called CLOVES Syndrome (Congenital, Lipomatous Overgrowth, Vascular malformations, Epidermal nevi and Scoliosis/Skeletal/Spinal anomalies) that creates “lumps and bumps” on the inside and outside of her body. Boston Public Radio, WBUR, recently covered her story in great detail.

Boston Children’s researchers have just made a discovery that could one day help Riley and patients like her. By studying the DNA of CLOVES patients, Boston Children’s doctors have pinpointed the genetic cause of CLOVES, just one year after their research project began—and only a few years after first identifying the syndrome. The discovery opens doors to targeted treatment of the condition and to further understanding of other, similar disorders.

In the following blog, Riley’s mother Kristen talks about what’s it’s like to raise a child with such a rare medical condition.

Becoming a parent is an act of love and faith that no amount of planning can ever really prepare you for. And once you begin raising your child, the changes you go through as a person are profound. Raising a child with a rare disease is even more life altering.

You experience all the love, hope and joy, but it’s mixed with almost constant anxiety, stress and strained financial budgets. It requires focus, discipline and intense endurance, but it’s also rewarding and empowering. That’s why I call it marathon parenting.

Riley receives treatment at Boston Children's

Marathon parenting can be hard to adjust to. (I always saw myself as more of a short-distance walker.) But sometimes life throws you into a race without giving you time to train; you just need to rise to the challenge.

I became a marathon parent early, before my daughter Riley was even born. At 18 weeks gestation, she was diagnosed with a lymphatic malformation in her chest and armpit. Our doctor had no experience with this type of vascular anomaly, so we did some research to find the person who could best help our baby. The search led us to Dr. Steven Fishman at Boston Children’s Vascular Anomalies Center.

Under the care of Dr. Fishman and his amazing team, Riley had the malformation and overgrowth removed at just 3 months old. Unfortunately the lesions continued to grow in and on the outside of her body. The Vascular Anomalies Center team did a great job caring for Riley, but weren’t fully sure what was causing the new malformations. (CLOVES was so rare it hadn’t been identified by doctors yet.) As she grew she needed more surgeries and medical interventions. At just 9 years old, Riley has had 16 surgeries, 32 MRIs and countless hospital visits.

Riley with members of her care team (Ed Smith, MD and Steven Fishman, MD)

By the time Riley was 5, Boston Children’s researchers had identified CLOVES as a specific syndrome, and she was diagnosed with it. It’s a progressive and very rare condition, affecting less than 100 people worldwide. Once Riley had a diagnosis I immediately starting searching for other people who were living with CLOVES so I could figure out what to expect. My searches turned up a few articles in medical journal articles, but little else. What I really wanted was to connect with other families dealing with what we were, but there were none.

It was disheartening, but as I was learning, marathon parents can’t let hurdles ruin their race. I began collecting and sharing information and stories about our lives online, and soon other CLOVES families joined us. Since launching in 2009, our CLOVES Syndrome Community has grown by leaps and bounds.

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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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