Lundbeck and the Hereditary Disease Foundation are partnering to support the Venezuelan families whose participation in clinical research led to the discovery of the gene responsible for Huntington's disease. The goal is to provide funds that will keep their treatment center open.

Find out how you can help with "just a click".

During my years as an internal medicine physician, I have used standard of care guidelines for my patients with conditions like diabetes and heart disease. Guidelines are developed by experts in each disease who translate clinical trial evidence and/or expert experience into recommended care patterns for use in medical offices or at the bedside. When followed, guidelines have been central to improving the quality of care provided by all physicians whether they are specialists or generalists.

CHDI recently appointed Keith Elliston, PhD, to the newly created position of Vice President for Systems Biology. Per the announcement from CHDI, this scientist brings the right mix of computer and biology skills to advance drug development in Huntington's disease (HD) by bringing a systems biology approach.

Systems Biology approach? What is this? And how can it advance drug development in HD?

The lead article in the April 28, 2011 New England Journal of Medicine reported on the first drug treatment that slows progression for LAM, a rare and devastating lung disease of young women that causes death in about 10 years after first symptoms. Before now, those who suffered from LAM (lymphangioleiomyomatosis) had little cause for hope. In addition to bringing forward a treatment for this disease, the LAM "MILES" trial is impressive because it took a relatively short time (4 years) to get this definitive 2-year Phase 3 trial done. To put it into perspective, LAM is more rare than HD, and has far fewer academic care and research centers than HD.

Why was LAM recruiting so efficient? Patient registries. It can work for HD too -- but only if we sign up.

There has been a relative and eerie quiet in the HD community following the report of the failed trial of dimebon for HD, perhaps because expectations were low after the earlier negative trial in Alzheimer's. Or another explanation is that the family community has lost energy after another failed trial.

Of course no one can be sure whether a new drug will be successful. But learning from the dimebon experience, perhaps we can work towards developing and defining a set of minimal criteria before selecting a drug for clinical trial. And the positive answer to our after-dimebon malaise? Join Cohort or Registry >> Enroll-HD.

HDBuzz is now live on HDDW, and will be the regular reporter of HD research on this site. HDBuzz editors Jeff Carroll and Ed Wild are scientists who write in plain language for our community. The focus is on those scientific articles that describe translational research, or the type of science that may be closer to bringing potential treatments to people.

We encourage you to read and learn, because with knowledge comes hope and power.

Lundbeck has announced a collaboration with Dr. Neil Aronin from the University of Massachusetts and several collaborators to work on preclinical (before people) RNAi therapies for Huntington's disease. Dr. Neil Aronin is one of the leading researchers of allele-specific silencing, or RNAi that targets only the mutant gene product, while maintaining the normal protein.

This funding support by Lundbeck shows that the company interest in Huntington's goes further than Xenazine (tetrabenazine).

HDBuzz is a great new source for updates in Huntington's disease research with a focus on subjects that have relevance for people in the near term, and not so much about the potential "breakthroughs" that are a decade or more away from people. Articles are written in "plain" language by scientists, who in turn ask for our comments, questions and suggestions for future articles. Community research reporting doesn't get better than this . .

Stigma, or the devaluation of a person is a huge and pervasive problem in HD. In varying degrees, it burdens virtually all in families touched by this disease. Stigma is a two-edged sword: an outside cutting edge from public and intra-family sources, and an equally destructive inside cutting edge that is self-directed.

The factors that may contribute to stigma in HD have never been studied. But learning from studies of stigma in other diseases, it is likely due to a combination of several characteristics that define the disease: chorea, mental illness, cognitive loss and genetic basis of illness. Part 1 of this series will focus on chorea and how this symptom may contribute to stigma.

First results from RESPOND-HD have been published about genetic discrimination and social stigma experienced by individuals drawn from those who have tested positive or negative for the expanded HD gene, and those who have positive family history, but have not gene tested. This study showed that overall a large number (46.5%) of those surveyed reported experiencing discriminatory events or stigma. However, a greater fraction (71.5%) of the tested group reported these events than the untested group (28.5%).

This type of study that measures the extent of the stigma is greatly needed. But shame on us if we stop there.