HSG 2015 HD Family Education Day

HSG’s annual event strives to include something for everyone interested in family education dayHD care and research, including HD families. This year at HSG 2015 in Tampa, the HD Family Day will be Saturday, Oct. 24, at the Grand Hyatt. The event starts with a lunch at 12:30 p.m. and welcome remarks from Emily Kellogg and Amanda March of HDSA’s Central Florida Affiliate. Other presenters include Jimmy Pollard on the need for daily routines, Pattie Johnson on advocacy, Danielle Hergert on research and clinical trials and Laura Moore, LCSW, on coping with and managing loss.

This event is free, but registration is necessarily because seating is limited. To register, click here.

The event is funded by the Huntington’s Disease Society of America through an unrestricted grant from Lundbeck and a national sponsorship by Teva.


Registration is open for HSG 2015: Building Our Future

HSG 2015 AG StD_Page_1Registration is now open for HSG 2015, Oct. 21-24, 2015 at the Grand Hyatt Tampa Bay in Tampa, FL. This has been an exciting year of change and accomplishments for HSG and we look forward to what is on the horizon. Join us in celebration and development of our exciting future at HSG 2015: Building Our Future!

Plans include:

  • Investigator and coordinator training sessions for ongoing HSG trials and Enroll-HD
  • Innovative and exciting educational sessions
  • Presentations on the latest and future therapeutics
  • A special reception including recognition of our membership’s amazing accomplishments
  • HD Clinical Research Symposium and HD Community Education Day on Saturday, Oct. 24

If you would like to submit an abstract for presentation at the Symposium, please see the Call for Abstracts. All selected abstracts will be published in the journal Neurotherapeutics and the presenting abstract author will be provided one night’s lodging at the Grand Hyatt.

Deadline for late-breaking Abstracts: Monday, Aug. 17, 2015

Please join us for this exciting event by registering by Oct. 1.

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CLOSED: Call for Abstracts: 9th Annual HD Clinical Research Symposium

CLOSED: Call for Abstracts

9th Annual HD Clinical Research Symposium: Saturday, October 24, 2015

Deadline for Receipt of Abstracts: July 13, 2015

Late Breaking Research Deadline: August 17, 2015

The Huntington Study Group (HSG) is organizing the Ninth Annual Huntington Disease Clinical Research Symposium (HDCRS) on Saturday, October 24, 2015 at the Grand Hyatt Tampa Bay in Tampa, Florida. In recognition of the focus on patient-oriented research, the HSG convened the first annual Clinical Research Symposium in 2007 to present valuable research and information to both clinicians and HD patients and family members.

Eligible abstracts may include data that have been presented previously, but please ensure they will still be of public, as well as scientific, interest. Authors will be asked to disclose relationships with funding sources and manufacturers of commercial products discussed in the presentation. The Symposium Committee will review and accept a limited number of abstracts for either platform or poster presentations. Accepted abstracts will be published in the journal Neurotherapeutics, and the primary presenting author will receive a night of lodging at the Grand Hyatt Tampa Bay. There is no registration fee to attend the HDCRS if attendees pre-register by October 16, 2015.

Deadline for receipt of abstracts is Monday, July 13, 2015 by 5:00PM, ET.

Late-Breaking Research Abstracts: Authors whose research data were not available until after the regular abstract deadline of July 13, 2015 are invited to submit a late-breaking abstract. Such late-breaking research submissions should represent original work not previously published.

Late-breaking research abstracts must be submitted by Monday, August 17, 2015 by 5:00PM, ET and should include an explanation of why this abstract was not submitted by the July 13th deadline.

Deadline for receipt of abstract is July, 13 2015 by 5pm, ET


Apply for a New Member Scholarship

HSG New Member Scholarship Award

The Huntington Study Group (HSG) wishes to encourage individuals wishing to pursue a career in HD research and expand its network of HD professionals. As such, the HSG has developed the New Member Scholarship program to support education and training for interested individuals.

New Member Scholarship Awards for new investigators, trainees, clinicians, geneticists, social workers, physical, speech, and occupational therapists, fellows, and medical students wishing to pursue a career in HD research and/or care to attend the HSG annual meeting: HSG 2015: Building Our Future, October 21-24, 2015 in Tampa, Florida. Scholarship recipients will learn about HD research and care, management and treatment of HD, and interact with the worldwide HSG network of researchers and clinicians.

This New Member Scholarship is open to first-time attendees of the HSG annual meeting. Applicants will be asked to submit a brief application cover letter outlining their interest in HD and becoming an HD professional and a CV/Biosketch. These applications will be reviewed by the HSG Scholarship Committee. The recipients will be expected to go through the approved HSG vendors in order to arrange travel and attendance at the meeting, and are also expected to attend the meeting.

Application DEADLINE: Monday, August 17, 2015

Applicants can submit their interest via our online application.

Recognition of the funders for this scholarship program will be appropriately recognized. Please contact Liz McCarthy if you wish to provide funding for this program.

New Member Scholarship Application DEADLINE: Monday, August 17, 2015

Apply to be a Shoulson Scholar

Shoulson Scholar Award

In honor of our founder, Dr. Ira Shoulson, the HSG has established the ‘Shoulson Scholar Fund.’ This fund will recognize outstanding junior investigators with a future of promising research in Huntington disease. The Shoulson Scholar Fund will be awarded to recipients in support of attendance of HSG 2015, the HSG’s annual meeting in Tampa, Florida, October 21-24, 2015. The award will support travel (airfare), 2 nights lodging, a travel stipend, and a $250 honorarium.


Applicants will be asked to submit a CV or Biosketch, a letter of interest (under 150 words), and a scientific abstract for the HD Clinical Research Symposium. These applications will be reviewed by an HSG Committee. The recipients will be expected to go through the approved HSG vendors in order to arrange travel and attendance at the meeting, and are also expected to attend the meeting.

Application DEADLINE: Monday, August 17, 2015

Applicants can submit their interest via our online application.

Scholars will be recognized formally at the meeting via award and speaker presentations. Abstracts accepted for the Symposium will be published inNeurotherapeutics and scholars will be asked to present their abstract to the Symposium audience during poster sessions.* Recognition of the funders for this scholarship program will be appropriately recognized.

*Note that all submitted abstracts will be considered for these opportunities, regardless of Shoulson Scholarship reception. All primary authors on accepted abstracts for the Symposium will be provided one night’s lodging at the meeting hotel as well.

Shoulson Scholar Application DEADLINE: Monday, August 17, 2015

An Interview with Dr. Nancy Wexler: Discovering the Huntington Disease Gene

By: Kristin Darwin

Nancy Wexler, PhD Dr.Wexler is the Higgins Professor of Neuropsychology in the Dept.s of Neurology and Psychiatry of the College of Physicians and Surgeons at Columbia University, as well as the President of the Hereditary Disease Foundation.

Nancy Wexler, PhD
Dr.Wexler is the Higgins Professor of Neuropsychology in the Dept.s of Neurology and Psychiatry of the College of Physicians and Surgeons at Columbia University, as well as the President of the Hereditary Disease Foundation.

One morning in 1968, Dr. Nancy Wexler’s mother, Leonore Wexler, had jury duty in downtown Los Angeles. As Leonore crossed the street on the way to the courthouse, a policeman yelled to her, “How can you be drunk so early in the morning?” Leonore realized that she had been staggering – an obvious sign that something was wrong.

Soon after, Leonore was diagnosed with Huntington disease (HD). Nancy Wexler, who was pursuing a PhD in clinical psychology at the time of her mother’s diagnosis, devoted her life to the study of HD. In 1979, Wexler and her colleagues began a research project in Venezuela to search for the HD gene. They surmised that finding the gene was the most direct route to the development of treatments, even cures! They developed a pedigree of over 18,000 individuals and collected more than 4,000 blood samples from the largest extended family with HD ever to have been discovered. Their data led to the identification of the gene responsible for HD.

Today, Wexler continues her involvement with HD as the Higgins Professor of Neurophysiology at Columbia University, and as President of the Hereditary Disease Foundation. At the November 2011 Huntington Study Group meeting, Wexler told HD Insights about the series of events that led to the discovery of the gene responsible for HD.

Wexler says that her father, Dr. Milton Wexler, was an invaluable contributor to the discovery of the HD gene. She and her father, who was a clinical psychologist and an expert group therapist, began HD workshops the same year her mother was diagnosed. These workshops were the foundation for the Hereditary Disease Foundation that is still active in HD research today. Wexler recalls, “We had a workshop for two days and came up with a research agenda. My dad took what he learned from group therapy, and from creativity, and off-the-wall thinking, and put it into these workshops. And in the 1970s, [the study of] DNA was kind of just being born. So we said, ‘Does that have an answer for us?’”

Wexler collaborated with Dr. David Housman to organize a workshop at the National Institutes of Health to discuss the feasibility of finding DNA markers for the HD gene. “There were very prestigious scientists at the workshop,” Wexler says. It was the early 1970s. A big question was, “How are you going to go from here to the moon if you don’t even know where the moon is, and you have to build your own spacecraft?” Additionally, genetic studies were difficult – all restriction fragment length polymorphisms were hand-crafted. Polymerase chain reaction had not yet been invented. Wexler continues: “At the workshop, there were lots of arguments about how many markers you needed to evenly cover the genome. We had to hand craft each marker and find enough to evenly cover the human genome. And everybody talked about families. The criterion for a family critical for gene mapping was a very large family in which you had both grandparents, both parents, and 10 or 14 kids.” At the time of this workshop, such an HD family was believed not to exist. Some in attendance at the workshop even told Wexler it was unethical to publicly announce that a search had begun for the HD gene.

They estimated a realistic timeframe for HD gene discovery was 50 to 100 years.

In fact, the large HD family Wexler and her colleagues sought had already been discovered by Venezuelan physician Dr. Americo Negrette, who in 1955 practiced in the small Venezuelan town of San Luis, near Lake Maracaibo. According to Wexler, “As he walked around the streets, he thought, ‘These people are drunk all the time! The nursing mothers are drunk, the fathers are drunk, everybody is drunk. What’s the matter with them?’ Finally, a woman pulled him aside, and said, ‘You’re such an arrogant doctor! Have you even looked at these patients? Have you smelled their breath? Nobody’s drinking. They’re not drunk. They’re sick.’”

Negrette realized that the woman was correct. He began to write up cases and make pedigrees of individuals from San Luis and its neighboring villages around Lake Maracaibo. He concluded that the people had HD. Negrette and colleagues made a video of the affected people in the villages and presented it at the 1972 World Federation of Neurology Research Group on Huntington’s Disease. Nancy and her father Milton Wexler were both in the audience.

Negrette’s video presentation and data were central to Nancy Wexler’s determination that she should travel to Venezuela to study HD. With the support and guidance of Negrette, in July 1979, Wexler and colleagues began a search in Venezuela for a person who was an HD homozygote. Her search for a homozygote was inspired by revelations in familial hypercholesterolemia. Wexler explains, “The godsend was that Dr. Michael Brown and Dr. Joseph Goldstein had found the gene causing familial hypercholesterolemia by studying homozygotes for the gene. Without the normal protein, it was more obvious what the abnormal protein was doing.” Wexler and her colleagues began compiling pedigrees and collecting blood samples from HD families. She and colleague Dr. Tom Chase eventually found many children with juvenile HD in a small stilt village in Lake Maracaibo. One two-year-old child had a “giant expansion of 109 CAGs – a very dramatic expansion.” Wexler began to collect blood samples from “all these layers and layers and layers of families, from great-grandchildren all the way up.” Homozygous families and the children with juvenile HD were both essential to finding the HD marker and the gene.

Wexler gave the blood samples she had collected to Dr. James Gusella, Dr. David Housman and Dr. Michael Conneally for benchwork analysis. In 1983, Gusella and Conneally determined that the gene responsible for HD is located at the tip of chromosome four.1 Wexler was working at the National Institute of Neurological Disorders and Stroke (NINDS) when they made their breakthrough. “It was incredible,” she says. “I just started screaming at the top of my lungs: ‘We found the gene!’ I called my dad. I said, ‘Dad, we did it’ and he started crying. I called my sister. It was just euphoric.”

Wexler also understood the larger implications of the discovery of the HD gene. “It meant that our strategy would work not only for HD, but for everything worldwide. At that point, we realized we had the human genome in our hand. We said, ‘Yes, you can do this, you can find new genes.’ We found the marker. That just revolutionized everything.”

Today, nearly two decades after the discovery of the HD gene, a successful disease-modifying treatment for HD has yet to be developed despite efforts from researchers worldwide. However, Wexler remains hopeful. When HD Insights asked what she thought would be the next euphoric moment in HD, Wexler replied, “When we cure it!”


1Gusella JF, et al. A polymorphic DNA marker genetically linked to Huntington’s disease. Nature. 1983 306:234-238.

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