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News from the Hereditary Disease Foundation News from the Hereditary Disease Foundation May Is Huntington’s Disease Awareness Month Each family facing Huntington’s disease has a unique and compelling story. During Huntington’s Disease Awareness Month, we recognize and honor all HD patients and their families. We also celebrate Hereditary Disease Foundation Partners in Research who generously provide support for breakthrough research to find treatments and cures. Because of this powerful partnership of philanthropy and science, we envision a future without HD. Partner in Research: Suzanne Wyckoff Suzanne Wyckoff with her children Kirt and Stacey For Suzanne Wyckoff, Huntington’s disease came as a shock. She had no idea that HD was in her husband’s family. When they separated in 1971, their two children were six and ten. In 1984 she learned that her former sister-in-law died from HD and that her ex-husband also had the disease. “At this point my daughter was in college and my son was in the Navy, so I just filed this information away. I didn’t investigate it or do anything. With my kids away, I felt free for the first time and was off sailing and enjoying life,” Suzanne says. However, in 1991 her son Kirt began displaying symptoms of HD and was formally diagnosed in 1992. Suzanne was plunged into a devastating unknown world. For her, as for so many HD families, the dreams she had for her children were brutally cut short. Kirt, who had served in the Persian Gulf War, died in 2003 at age 42. Suzanne’s daughter Stacey was diagnosed in 1997 and died last year at age 55. She had worked at the University of California, San Francisco Medical Center in the pediatric AIDS program for many years. “Everyone who met Kirt fell in love with him – he was just a shining light,” Suzanne says. She recalls her smart and beautiful daughter telling her at one point during her illness, “I used to have a perfect life.” After her children were diagnosed, Suzanne devoted herself to the fight against HD. She was involved with support groups in San Francisco, Oakland and Marin County, California. She established a business to make the nutritional supplement known as Coenzyme Q10 (CoQ10) available and affordable to patients who wanted it. Her relationship with the Hereditary Disease Foundation began in the late 1990s when she first met Dr. Nancy Wexler, President of HDF. Suzanne describes Nancy’s warmth, commitment and her guidance and emotional support over the years, “Without Nancy, God knows where my life would have gone.” Today, Suzanne remains very much in the fight. “I would like to prevent other families from going through what I’ve been through these last 25 years. I’m hoping for a cure, and the Hereditary Disease Foundation is the organization I trust to make it happen,” she says. Suzanne’s trust is exemplified by her decision to include the Hereditary Disease Foundation in her will. “We should do it out of respect for the people we’ve lost,” she says. She encourages others to consider making a legacy gift to fund research that may lead to the next great discovery. Suzanne is supporting the research of HDF-funded scientist Dr. Steven Finkbeiner at the Gladstone Institutes and the University of California, San Francisco (UCSF). “I decided to support Dr. Finkbeiner’s work because he is a member of the faculty of the same institution where my daughter worked,” she says. “They never met, but it’s a full circle thing. I figured that is where Stacey would want the money to go.” Researcher: Steven Finkbeiner, MD, PhD As a child, instead of playing with his toys, Steve Finkbeiner would take them apart to figure out how they worked. “I’ve always been interested in how things work, whether it’s the human body or anything for that matter,” he says. This led him to first become interested in Huntington's disease as a medical intern in 1998. Following his residency in neurology at UCSF, Steve did a fellowship at Harvard where he focused on basic questions about how learning and memory work. He thought some of the approaches he was using might also be useful for studying HD, and he was right. Steven Finkbeiner, MD, PhD, Director, Center for Systems and Therapeutics Director, Taube/Koret Center for Neurodegenerative Disease Gladstone Institutes Professor, Departments of Neurology and Physiology, University of California, San Francisco “I was fascinated by the disease and the questions surrounding it.” He recalls his first HDF Symposium and getting a big hug from Nancy. “I appreciated the camaraderie and collaborative nature of the HD community – I was hooked scientifically and personally.” Today, Steve is a member of the HDF Scientific Advisory Board and is at the forefront of HD research. “The challenge with HD and every other neurodegenerative disorder is that they are really complex.” Everyone with the expanded version of the HD gene will eventually develop symptoms of HD if they live long enough, but not everyone gets the disease in the same way or at the same time. This can partly be explained by differences in the abnormality of the Huntington’s gene. But other factors – including other genes – account for about half of the variation. It can mean the difference between developing symptoms at 35 or 60 years old. “This is an exciting idea that suggests there may be other ways to treat HD in addition to targeting the HD gene itself,” Steve says. “If we knew what those other genes were and if some of them could be targeted with therapy that could modulate Huntington’s disease, that might be as good as a cure.” The project that HDF is funding, thanks to Suzanne Wyckoff and other donors, focuses on two genes that may be therapeutic targets. In collaboration with Dr. Leslie Thompson at the University of California, Irvine, Steve is looking at these potential modifying genes and using patient-derived stem cells to make human neurons that show changes that look a lot like HD. “We’re using them as tools to find things that might help HD patients,” he explains. Steve is using an approach he invented called robotic microscopy. He built microscopes that work by themselves and are programmed to take pictures of cells over periods of days, weeks or months. These special microscopes allow him to follow individual cells, much like patients in a clinical trial – each neuron is almost like a patient. “With these microscopes we can study what happens when we target those potential modifying genes for HD.” Learn more about this project. Speaking of the partnership between supporters and researchers, Steve says, “We’re all in this together. This is very much a team effort. Scientists have their role to play, and so do funders. Supporters of the Hereditary Disease Foundation are absolutely critical to enabling us to reach our shared goal. Our scientists interact with HD families, and we’ve seen how devastating this disease is. It feels like we are all family.” He points out that HDF-funded research is vital because HDF focuses on the most innovative projects that maybe have a high risk, high reward ratio where an investment could really catalyze a big leap forward. “One of the Hereditary Disease Foundation’s biggest impacts has been to recruit the best scientists in the community to HD research. Our Scientific Advisory Board is incredibly committed in part because of the enormous impact HDF has had on their own careers. Board members are eager to make great use and be good stewards of the funds provided by supporters and to really make a difference for HD patients and families.” Planning for the Future: Legacy Giving Making a legacy gift of any amount to the Hereditary Disease Foundation helps ensure that we will continue to fund cutting-edge Huntington’s disease research. For more information, please click here. Research Spotlight Webinar The date for our next Research Spotlight Webinar featuring Dr. Christopher Pearson has been changed to Tuesday, June 22, from 12pm to 1pm ET. We hope you will join us. For details and to register, click here. Innovating Research…Discovering Cures Donate Today Contact Us: Web Twitter Facebook Published May 2021 .
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