Using the HairDX test, a physician can tell a man who tests positive for the high risk genetic variant that he has approximately a 70% chance of going bald. Similarly, a physician can tell a man who tests negative for the high risk genetic variant that he has approximately a 70% chance of not going bald.

"The next generation test report is based on a pooled data model from multiple peer reviewed studies of over 2,000 Caucasian men. The studies demonstrated the association between the genetic variants measured by the HairDX genetic screening test and the development of Androgenetic Alopecia in men," says Andy Goren, HairDX Chairman and Co-Founder.

In addition to the improved clinical validity and utility, the HairDX genetic test now includes genetic markers on the Androgen Receptor (AR) gene as well as on Chromosome 20.

"A recent study demonstrated that Propecia?©, the only FDA approved oral prescription medication for the treatment of male pattern baldness, is effective at preventing hair loss over a period of several years. Doctors using the HairDX genetic screening test can offer a treatment plan to prevent hair loss in men of all ages before any visible signs of hair loss," says Dr. Sharon Keene, Chief Medical Officer for HairDX and former Chairman of the Annual Scientific Committee of the International Society of Hair Restoration Surgeons.

Visible signs of hair loss usually mean that a man has already lost up to 50% of their hair. Early detection via the HairDX genetic screening test provides an opportunity for intervention and treatment before it is too late.

The next generation screening test identifies approximately 70% of men that will benefit from early treatment. As with any screening test, some men will be identified for treatment even though they may not go bald. Confirmatory tests by a qualified physician will eliminate unnecessary treatment.

hairdx

In the current study, the investigators searched for mutations in the enhancer sequence in holoprosencephalic patients. They identified one mutation in a region of the enhancer that has been conserved for over 300 million years of evolution, attesting to the importance of these sequences. The mutation caused a significant reduction in Shh enhancer activity in the hypothalamus.

In turn, they screened for proteins that assemble on the Shh brain enhancer. They found a protein called Six3 that binds less tightly to the mutated form of the Shh enhancer. The enhancer can't work without the proteins that bind to it, and this study showed a direct link between the Six3 DNA- binding protein, the sequence that regulates Shh, and hence brain development. Interestingly, mutations in Six3 also cause holoprosencephaly, but the mechanism by which this occurs was previously unknown. Results from the Penn study now indicate that it is likely through the failure to activate Shh.

Identifyng additional components of the Shh brain enhancer complex will further our understanding of how gene regulatory networks operate during normal brain development. This type of basic research should also be instrumental in identifying additional causes of holoprosencephaly and other congenital brain anomalies resulting from the misregulation of Shh expression.

med.upenn/