As a ‘biological being,’ I embrace science’s fight against disease

 

I am a biological being.

 

This phrase came to me about a decade ago, and I have been hoping to write about its meaning for a long time.

 

Now, with scientific research at key American institutions such as the National Institutes of Health and university labs under attack from the Trump administration, the phrase resonates with me stronger than ever.

 

From the time I was hospitalized in 1977 with two herniated discs after shoveling heavy snow through decades of participation in Huntington’s disease research studies, I have been acutely aware of my body as the object of biomedical observation.

 

Seeing scans of deteriorating HD brains at scientific conferences leaves me deeply worried about the shrinking of my own brain – the inevitable result of the fact that I carry the HD gene.

 

In March 2022 I observed preliminary data presented by Triplet Therapeutics from SHIELD-HD, a two-year research study of 70 presymptomatic and early-disease-stage carriers of the HD mutation. Triplet aimed to use SHIELD-HD to support plans for a groundbreaking clinical trial to attack a key driver of HD, somatic expansion, the mutant huntingtin gene’s tendency for continued expansion with age. The program was scuttled because the firm folded in October 2022 as it lacked investment funds.

 

The 2022 SHIELD-HD data showed deterioration in the brains of the gene carriers.

 

For the first time, I saw information about the impact of the HD gene on my own brain. I had volunteered for SHIELD-HD, undergoing MRI brain scans and cognitive tests and giving samples of blood and my cerebrospinal fluid (CSF) at the HD clinic at the University of California, San Diego.

 

Below are photos of me in the clinic in August 2022, just two months before the Triplet shutdown. The first shows a neurologist injecting an anesthetic to prepare for the drawing of my CSF. In the second photo the doctor draws a small amount of my CSF. It was the last of my several CSF drawings over the course of SHIELD-HD. Scientists see analysis of CSF, which bathes the brain, as a major tool in the search for therapies for HD. 

 

Having CSF drawn is a safe procedure but can be painful. Each time I drove home by myself within a couple hours of the drawing. I am very glad I did it.

 

 

 

 

Analysis of SHIELD-HD

 

With the end of Triplet, final analysis of the key SHIELD-HD data was completed by CHDI Foundation, Inc., the largest private funder of HD research. The analysis was presented at the 19th Annual HD Therapeutics Conference, sponsored by CHDI, in February 2024.

 

A future article will further explore my participation in SHIELD-HD and the importance of that program for HD research.

 

The 20th Therapeutics Conference: a sign of collaboration

 

As a biological being, I embrace science, not useless conspiracy theories. At the University of San Diego, where I teach and research, I began a new course this month called “A History of the Brain: Examining Huntington’s Disease.” One key lesson from the history of brain science: reliance on superstition was replaced with scientific observation – the key to solving neurodegenerative disorders like HD.

 

On a large scale, so has the HD community participated in and supported science – from the start of the hunt for the gene in the 1970s to programs today such as Enroll-HD. Tens of thousands of individuals from around the world have taken part, despite the fact that HD is a rare disease, with about 40,000 affected individuals in the U.S.

 

CHDI, the Huntington’s Disease Society of America, the Hereditary Disease Foundation, Help4HD International, and other HD organizations also rely on science and cooperate with scientific institutions.

 

A magnificent example of scientific collaboration will take place starting this evening in Palm Springs, CA, as the 20th HD Therapeutics Conference gets under way at the Parker hotel.

 

Stay tuned for reports about the meeting.