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Genetics and Genomics Stories

A family's fight against this rare orphan disease

After their son Oliver was diagnosed with the rare genetic disorder galactosemia, Jamie and Erin Siminoff decided they would devote their life to helping to cure this disease and many others like it.   [Read more about the Siminoff's story and galactosemia]

 

Saving Grace

Addison Lennon met all her early milestones: she sat up on time, crawled on time and walked on time.  At about 4 months, however, she had a seizure, and her parents started to worry. By 9 months, her head appeared small for her age. [Read more about the Lennon's story and microcephaly]

Autism: finding the genes behind the disease

AutworksDonnie T. had no interest in going out for ice cream or visiting the candy store. What he really loved to do was watch tops spin. "He was happiest when he was left alone," his physician Leo Kanner, MD, of Johns Hopkins Hospital wrote in 1938, "almost never cried to go to his mother, [and] never seemed to notice his father's homecomings."

We now understand that the "fascinating peculiarities" Kanner saw in 5-year-old Donnie, which he called "autism," are likely due to miswiring or missing neural connections... [Read more]

A blood test for autism?

Kunkel and SchneiderAutism spectrum disorders can be a challenge to diagnose. A definitive diagnosis generally requires careful assessment on a series of performance tasks in a specialized clinic. Now, researchers at Boston Children's Hospital have developed a potential blood test that can be performed in a standard diagnostic laboratory and appears to identify ASDs with 85 percent accuracy... [Read more]

Metabolic disease: a fight for dignity

BerryWhen President John F. Kennedy said that we can do better, he had much more in mind than landing a man on the moon. "Most of the major diseases of the body are beginning to give ground in man's increasing struggle to find their cause and cure," he said in 1963. "But the public understanding, treatment and prevention of mental disabilities have not made comparable progress... [Read more

Drug frees PKU patients from restrictive diet

LevyChildren with phenylketonuria (PKU) must have all their foods weighed and measured to minimize their intake of phenylalanine (phe), lest it accumulate and cause brain damage. Results from an international study led by Boston Children's Hospital however suggest that some patients can lower their phenylalanine levels with a drug... [Read more

Noncoding DNA found to be important

DNAAbout 5 percent of mammals' genetic makeup has remained virtually unchanged by evolution. Surprisingly, less than a third of these "conserved" portions of the genome contain genes that code for proteins. The rest, known as conserved noncoding sequences (CNCs), is of growing interest to scientists: there's growing suspicion that these areas aren't just filler... [Read more

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