Phenylketonuria (PKU) News and Research

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40 percent of parents willing to have their child's DNA stored in a government biobank

Genetic testing holds great promise for the future. Information generated by genetic testing may provide information that leads to new treatments for common diseases such as heart disease and diabetes.

23 Jun 2007

BioMarin starts phase 2a study of 6R-BH4 in sickle cell disease

BioMarin Pharmaceutical has announced that the first patient has initiated treatment in the Phase 2a clinical study of 6R-BH4 (sapropterin dihydrochloride) for the treatment of sickle cell disease (SCD).

4 May 2007

Mapping rhesus macaque genome helps illuminate what makes us human

Researchers have sequenced the genome of the relatively ancient rhesus macaque ( Macaca mulatta ), providing perspective into how humans are genetically different from our primate relatives.

15 Apr 2007

Researchers recommend national uniform newborn screening tests

In a new study, conducted for the federal government and published in a supplement to the May issue of the journal Pediatrics, Stephen M. Downs, M.D. and Aaron E. Carroll, M.D., of the Indiana University School of Medicine, recommend a national uniform panel of newborn screening tests which they found to be cost saving as well as life saving.

3 May 2006

Technique for inserting genes into specific sites on the genome in liver cells

The genes are inserted into non-coding regions of the genome so there is no danger of interfering with the functioning of other genes. Once inserted, the gene remains a permanent part of the cell's genome.

10 Oct 2005

First home-testing device for phenylketonuria (PKU) patients

Home-testing kits have made it easier for diabetics and hypertension patients to track their conditions, but such self-monitoring hasn’t been possible for people with phenylketonuria (PKU).

1 Nov 2004