Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Our final daily report from the Huntington’s disease World Congress brings together all the live updates from our twitter feed. Video of both Oz Buzz sessions - with news, interviews and features - is on YouTube now and will be available to watch at HDBuzz.net later this week.
8:33 - Jeff and Ed are now live from day 3 of the World Congress on HD!
8:40 - Jeff: HD may be much more common than we thought - Michael Hayden
8:47 - Jeff: HD is an increasing burden on the elderly, who in the past may not have lived long enough to have symptoms - Hayden
9:02 - Ed: More on increased ‘prevalence’ of HD - how it’s more common than we thought
9:07 - Ed: studies in sperm helping to predict whether a CAG repeat in the ‘gray area’ will cause problems for next generation
9:13 - We need to move away from talking about ‘onset’ in Huntington’s - symptoms begin gradually over years - Dr Mark Guttman
9:32 - Huntington’s disease causes a wide variety of symptoms so doctors should always bear it in mind when seeing patients- Elizabeth McKusker
10:36 - Ed’s reporting from the ‘Science: omics’ session - Jeff’s in ‘International models of care’.
10:37 - Ed: ‘omics’ means measuring loads of things at once. Like genomics (looking at tons of genes)
10:45 - Ed: Metabolomics is measuring metabolites - small molecules in blood. Wayne Matson’s done it in HD & finds interesting changes
10:54 - Ed: Levels of a chemical I3PA seem to be reduced in blood of HD patients and HD mice. Not yet clear why but could be useful - Matson
11:02 - Jeff: HD patient care in Australia is difficult because of complex health care administration - Andrew Churchyard
11:00 - Jeff: Significant numbers of HD families don’t interact with the medical system, and we don’t know why - Churchyard
11:11 - Ed: Brain immune cells called microglia are abnormal in HD mice - Dr Blair Leavitt - are they helping or harming?
11:13 - Ed: There are also changes in the mice’s brain blood vessels that could increase the cross-talk between brain & body - Leavitt
11:26 - Jeff: Access to medical services for HD families in South Africa is limited - Amanda Krause
11:34 - Jeff: In black Africans a disease called ‘HD like 2’ looks very much like HD, but is caused by a different mutation - Krause
11:38 - Ed: Ruth Luthi-Carter examines which genes are more and less activated in different mouse models of HD & compares them to humans
11:51 - Ed: These gene activation changes could help us to understand the disease and develop and test new drugs - Luthi-Carter
12:06 - Ed: Proteins do stuff by sticking to each other. Mutant and normal huntingtin stick to different groups of partners - Chris Ross
12:11 - Ed: An international consortium of researchers is using stem cell models to help understand Huntington’s disease
12:18 - Jeff: Francisco Cardoso - new Latin american HD network active at rlah.org
“The HORIZON study recruited rapidly and was run efficiently: good news for future trials of upcoming treatments - Bernhard Landwehrmeyer ”
12:20 - Ed: The consortium has figured out the recipe for turning stem cells into the neurons most affected by HD. Very valuable research tool
12:27 - Red Latino-Americana de Huntington: investigación de tratamientos efectivos para la Enfermedad de Huntington
12:43 - Ed: Comparing gene switching and behavior across mouse models shows that different models mimic different aspects of HD Lesley Jones
12:44 - Ed: One of the mouse models called Q150 actually produces less huntingtin protein overall - weird but important to know about - Jones
12:45 - Ed: An HDBuzz article on the different mice used in Huntington’s disease research is coming soon
13:47 - Ed and Jeff are now reporting from the final science session - late breaking hot topics. Jeff is the first speaker in the session!
13:56 - Jeff studies metabolites in several tissues in HD mice. Tissues like brain, fat and liver are all changed differently by the mutation.
14:00 - Metabolic changes Jeff found in HD mouse blood mirror the changes in the brain - could be useful for studying human patients
14:19 - Dimebon showed no benefit for HD in big trial- HORIZON. The quest for treatments for thinking probs continues.
14:21 - However, HORIZON study recruited rapidly and was run efficiently - good news for future trials of upcoming treatments - Bernhard Landwehrmeyer
14:42 - Chemical ‘tattoos’ are added to DNA by enzymes. HD messes this up. HDAC inhibitor drugs should help - a trial’s underway - Larry Marsh
14:50 - There are many different DNA ‘tattoos’ = many ways to try to improve things with drugs. Animal studies will identify best ones - Marsh
15:10 - Jeff: Clare van Eyk uses fruit flies to try and understand how the mutated huntingtin gene kills brain cells
15:12 - ‘RNA’, as well as protein might contribute to brain cells dying - Clare
15:13 - Jennifer Thompson is studying the psychiatric symptoms of HD, like apathy and depression, which can be devastating
15:16 - Apathy is incredibly common in HD, and worsens over time - Thompson
15:18 - Interestingly, depression is also common in HD, but doesn’t seem to change much over time - Thompson
15:36 - Robi Blumenstein of CHDI - like a chess game, we need to think far ahead if we’re going to beat Huntington’s disease
15:40 - Success is a three-legged stool: (1) an effective treatment (2) the ability to test it and (3) enough trial volunteers - Blumenstein
16:00 - Lots of HD family members needed for trials, now & future. Find out how to get involved at Enroll-HD.org