As the Hereditary Disease Foundation (HDF) celebrates our 50th anniversary, we are pleased to launch this newsletter highlighting the outstanding HDF funded research being done by scientists around the world.
Read our February 2018 Newsletter now.
"From the moment I first visited Venezuela in 1979, which has the world’s highest prevalence of Huntington’s disease, I was moved and motivated to help and improve the lives of patients with Huntington’s disease, their families and their communities."
Read full letter.
“I'm ecstatic,” said Nancy Wexler, who in 1993 identified the mutation. “Huntington's is horrible, one of the worst diseases known to mankind, and certain death. . . . We know it’s a bad gene, making a bad protein, that makes people sick, that kills your brain cells. Anything that could impact that, we knew that that could be a cure.”
Read the full story here.
The Hereditary Disease Foundation congratulates Dr. Sarah Tabrizi, director of the University College London's Huntington Centre and the global lead investigator on the study, and her team on their breakthrough discovery. Congratulations also to C. Frank Bennett, senior vice president of research at Ionis Pharmaceuticals and longtime Scientific Advisory Board of the Hereditary Disease Foundation.
To read about this clinical trial, visit http://www.bbc.com/news/health-42308341.
Dr. Nancy Wexler, President of Hereditary Disease Foundation, said, "I'm ecstatic to see these promising positive results! If this therapy works to prevent or reverse HD, for the first time we will have something to immediately give people when they have a genetic test and discover that they are destined to die in the most catastrophic way."
This extraordinary and exciting breakthrough brings hope to the thousands of Huntington's disease patients and families worl dwide. This study will have an amazing impact on the HD community!
On November 6, the Hereditary Disease Foundation held a Symposium and Gala to launch our 50th Anniversary celebration. Sarah Tabrizi presented at the Symposium the latest from the "first in human" drug trial which "silences" - or turns down - the HD gene. Sarah also is the recipient of the Hereditary Disease Foundation's 2017 Leslie Gehry Brenner Prize for Innovation in Science for her research to discover treatments to prevent or reverse HD. We couldn't be prouder!
Sarah Tabrizi and Frank Bennett have been a part of the Hereditary Disease Foundation research family for many years. We are thrilled to see this research advance to such a remarkable point! A cure for the Huntington's disease is indeed within our reach.
Sarah Tabrizi presented the latest from the “first in human” drug trial which “silences” – or turns down – the HD gene at the Hereditary Disease Foundation's 50th Anniversary Symposium and Gala on November 6, 2017.
Watch her presentation here.
Sarah also received the 2018 Leslie Gehry Brenner Prize for Innovation in Science that evening.
Francis Collins, Director of the National Institutes of Health, captivated us with a walk through the HDF’s history – including him as a member of the HD Gene Hunters at the Hereditary Disease Foundation's 50th Anniversary Symposium and Gala on November 6, 2017. Watch his presentation here.
Jang-Ho Cha spoke about the HDF's strong commitment to fostering women in science – from our Scientific Advisory Board to funded researchers at the Hereditary Disease Foundation's 50th Anniversary Symposium and Gala on November 6, 2017. Watch his presentation here.
With your support, the Hereditary Disease Foundation is able to fund innovative research towards curing Huntington's disease and impacting other brain disorders. The Foundation focuses on curing Huntington's disease, not only because of its devastating consequences to individuals and families with the disease, but because it is a model for curing other brain disorders like Parkinson's, Alzheimer's and Lou Gehrig's (ALS) diseases.
Make a gift to the HDF in honor of a family member, a friend, a special event or just because! Learn about the different ways you can give to us.
You can also support the HDF while shopping.
Shop on AmazonSmile and Amazon donates to Hereditary Disease Foundation.
Help the Hereditary Disease Foundation every time you shop online through iGive! It's all free and so easy to be socially-conscious. Join now! There are more than 1,700 socially-responsible stores that participate. You shop at your favorite stores through the iGive link, the Hereditary Disease Foundation receives a percentage in return. Sign up now!
Happy holiday season!
As the Hereditary Disease Foundation enters our 50th year, we are thankful for you - our scientists, our supporters, our families and friends.
Wishing you a happy and healthy Thanksgiving from the Hereditary Disease Foundation!
Professor Sarah Tabrizi wins international award for hereditary disease research
9 November 2017
Professor Sarah Tabrizi, director of the UCL Huntington’s Disease Centre at the UCL Institute of Neurology, has received the 2017 International Leslie Gehry Brenner prize for Innovation in Science.
Awarded by the Hereditary Disease Foundation on November 6 in New York, the $100,000 prize is in recognition of “her outstanding contributions to innovative clinical trials and to clinical care for people with Huntington's disease and their families.”
The award committee commended Professor Tabrizi for her work advancing the mechanistic understanding of Huntington’s disease pathobiology and developing novel therapies for Huntington’s disease (HD).
The prize was donated by architect Frank Gehry and his family, in memory of his daughter Leslie who died of cancer in 2008.
Professor Tabrizi co-founded the UCL Huntington’s Disease Centre in 2016 with Professor Gillian Bates, who won the Leslie Gehry Brenner Award in 2012 for developing the first mouse model of HD.
Professor Tabrizi’s research programme seeks to discover effective disease-modifying treatments that prevent or reverse the neurodegenerative process in HD. She leads a research group that follows two distinct but complementary approaches: basic science focusing on cellular mechanisms of neurodegeneration, and a programme to translate those findings into treatments and cures. She and her collaborators have developed means of identifying and measuring the HD gene and its protein in human blood and cerebrospinal fluid (CSF).
She leads a team at the UCL Huntington’s Disease Centre that is currently conducting a trial of a novel ‘gene silencing’ treatment for HD, sponsored by Ionis Pharmaceuticals. It’s the world’s first trial in patients to slow, stop, prevent or reverse HD, using a method that targets the root cause of the disease, a gene producing a protein called huntingtin.
She has published over 250 peer-reviewed publications to date, she was elected a fellow of the UK Academy of Medical Sciences in 2014, and in 2010 helped set up the UK All-Party Parliamentary Group for HD.
“I am honoured to receive this award and I am deeply grateful to the Hereditary Disease Foundation and to the Gehry family for their support of research that seeks to improve the lives of people with hereditary diseases such as Huntington’s disease. The award is a testament to the tireless efforts of the UCL HD Centre team and our collaborators as we seek to lead world-class research from bench to bedside. Every year we are getting closer to identifying treatments that could slow down the disease process, and ways to prevent or delay disease onset in HD gene carriers” Professor Sarah Tabrizi
“Congratulations to Sarah on this major achievement. We are proud to host the UCL HD Centre at the UCL Institute of Neurology, Queen Square. It is the largest and most productive clinically-focused HD research group in the UK, and is at the forefront of neurodegenerative disease research and has real potential to transform people’s lives.” Professor Michael Hanna, Director of the UCL Institute of Neurology
“We are thrilled to present the Leslie Gehry Brenner Prize to Sarah Tabrizi. Professor Tabrizi has channelled her passion for scientific research into discovering ways to prevent or reverse Huntington's Disease. We thank her and her superb global team for their extraordinary work.” Professor Nancy Wexler, President of the Hereditary Disease Foundation
The Hereditary Disease Foundation will announce the recipient of the 2017 Leslie Gehry Brenner Prize for Innovation in Science at its 50th Anniversary Symposium and Gala on Monday, November 6, 2017, at the Metropolitan Club in New York City. Symposium at 6pm, Reception at 7pm, Dinner/Awards Ceremony at 8 p.m.
WHO: Keynote Address
Francis S. Collins, MD, PhD, Director of the National Institutes of Health
Jang-Ho J. Cha, MD, PhD, Novartis Institutes for BioMedical Research
Sarah J. Tabrizi, FRCP, PhD, FMedSci, University College London Institute of Neurology
WHAT: A Celebration of 50 Years of Discovery Symposium and Awards Dinner
WHEN: Monday, November 6, 2017
WHERE: The Metropolitan Club, One East 60th St., New York City
The Hereditary Disease Foundation facilitates collaborative and innovative scientific research to further the understanding of Huntington’s disease, a genetic disorder that strikes in early- to mid-adulthood, destroying brain cells, and bringing on severe and progressive declines in personality, cognitive ability, and mobility. As a disease caused by a mistake on a single gene, Huntington’s disease is an ideal model for other brain disorders. Research organized by the Foundation led to the discovery of the genetic marker for Huntington’s disease in 1983. The Foundation organized and funded a decade-long international collaboration of over 100 scientists who discovered the gene that causes Huntington’s in 1993. This work played an important role in the development of the Human Genome Project. For information visit http://www.hdfoundation.org.
PRESS CREDENTIALS REQUIRED
Contact: Myrna Manners, Manners Dotson Group
Click here to purchase tickets or make a gift to the HDF.
Please make checks payable to Hereditary Disease Foundation and send to:
Hereditary Disease Foundation
3960 Broadway, 6th Floor
New York, NY 10032
Help the HDF every time you shop online! It's all free and so easy to be socially-conscious. Join now and start Giving #AllYearRound.
There are 1,780 socially-responsible stores make this possible because they want you to like them and shop at them over and over again.
Click here to learn more or sign up now.
By Nancy Sabin Wexler, October 14, 2017
On Friday, October 13, 2017, my very good friend Michael David Rawlins was invested at Buckingham Palace by Her Majesty the Queen, with the accolade of a Knight Grand Cross of the Most Excellent Order of the British Empire. He is only the fourth physician in 100 years to be granted this very prestigious award. Most awardees are either senior military figures or men and women who have rendered very substantial public service.
The formal citation for Sir Michael, as read out at the ceremony in Buckingham Palace stated that his award has been given “For services to the Safety of Medicines, to Healthcare and to Innovation.” The longer citation, published by the Cabinet Office, reads: “Sir Michael Rawlins, currently chair of the Medicines and Healthcare products Regulatory Agency and UK Biobank was also the founding chair of the National Institute of Clinical Excellence. Under his leadership NICE became an internationally recognised organisation, pioneering processes which have been copied world over. It has facilitated faster NHS uptakes of new technologies and procedures, offering opportunities to patients in a way not experienced before. He has previously served as chair of the Advisory Council on the Misuse of Drugs and President of the Royal Society of Medicine.”
Sir Michael has been a good friend to the Hereditary Disease Foundation for many years. He has travelled to Venezuela on many occasions. On his first visit, he came to investigate prospects for doing clinical trials in the Lake Maracaibo region, but later arranged visits through the good offices of the UK Ambassador in Caracas. Sir Michael also visited the Casa Hogar, in Maracaibo, and helped promote its work to a global audience.
In the UK, he is also instrumental – with Charles Sabine – in establishing an All Party Parliamentary Group (APPG) for Huntington’s Disease in the UK parliament. The APPG provides an opportunity for parliamentarians from across the political divide, and with members from both the House of Commons and the House of Lords, to draw attention to the critical needs of Huntington’s families. It was originally chaired by a very distinguished neurologist, Lord (John) Walton of Detchant. The former Health Secretary, the Right Honorable Frank Dobson, later took on the chairmanship of the APPG.
Charles Sabine, a former NBC journalist and a member of an HD family, has recently been instrumental in forming an organization known as “HDdennomore” (pronounced “Hidden No More). Charles and Elena Cattaneo (the Director of the University of Milan’s Centre for Stem Cell Research and also a Senator for Life in the Italian Parliament) were responsible for organizing the Papal Audience for HD families on May 18, 2017. This was attended by representative families from nearly 30 different countries, including many from South America. Of these, 20 families came from Venezuela. The Pope, in his address, encouraged the Church to embrace those with HD and their families and afterwards hugged them all. He also encouraged HD scientists to increase their efforts in finding treatments and cures. The Papal audience in May also reminded us that the burden of the political crisis in Venezuela is being heavily born by the HD families who have very limited access to food, water and medicines.
I look forward to encouraging this momentum. It has been created by the energy of so many talented and innovative people who together will change the world for the better.
Trials Evaluate the First Allele-Specific Investigational Drugs for Huntington’s Disease, WVE-120101 and WVE-120102
CAMBRIDGE, Mass.--(BUSINESS WIRE)--Jul. 17, 2017-- Wave Life Sciences Ltd. (NASDAQ:WVE), a biotechnology company focused on delivering transformational therapies for patients with serious, genetically-defined diseases, today announced the initiation of the Company’s PRECISION-HD program, which includes PRECISION-HD1 and PRECISION-HD2, the Company’s two Phase 1b/2a clinical trials evaluating WVE-120101 and WVE-120102, respectively, for patients with Huntington’s disease (HD).
“Wave’s PRECISION-HD program is the first to target the underlying cause of Huntington’s disease with an allele-specific approach,” said Michael Panzara, MD, MPH, Neurology Franchise Lead of Wave Life Sciences. “Obtaining approvals to initiate these global studies as part of our first clinical program marks an important milestone for Wave. More importantly, these investigational compounds have the potential to address a critical unmet need for the HD patient community where no disease-modifying treatments are currently approved.”
PRECISION-HD1 and PRECISION-HD2 are Phase 1b/2a multicenter, randomized, double-blind, placebo-controlled studies that will primarily evaluate the safety and tolerability of single and multiple doses of WVE-120101 and WVE-120102, respectively, administered intrathecally in HD patients. Additional exploratory objectives include assessing the impact that each compound has on the toxic mutant protein known to cause loss of brain cells in HD, as well as evaluating potential clinical effects and impact on brain atrophy as measured by magnetic resonance imaging (MRI). Both PRECISION-HD trials will follow the same protocol, and each will target a single nucleotide polymorphism, or “SNP,” that marks a separate and distinct location on the mutant huntingtin (HTT) gene transcript. Wave intends to enroll approximately 50 patients globally in each of the two studies through multiple sites, in Canada initially, with Europe and the United States to follow.
The PRECISION-HD trials for WVE-120101 and WVE-120102 will include adult patients with early manifest HD who carry a SNP at the rs362307 (“SNP1”) or the rs362331 (“SNP2”) location, respectively. Potential HD patients for the PRECISION-HD program will be pre-screened for the presence of SNP1 or SNP2, and directed to the appropriate study upon qualifying for entry. Approximately two-thirds of all HD patients are expected to carry either SNP1, SNP2, or both, in association with the HD gene.
SNPs are a common type of genetic variation that normally occur in all humans, but may also act as biological markers to aid in locating genes associated with a particular disease. Previous HD research has identified multiple SNPs that are associated with the disease-causing expanded cytosine-adenine-guanine (CAG) repeat, which is an abnormality present in all HD patients that results in the production of mutant huntingtin protein, and causes HD. Therefore, Wave is utilizing common SNPs to precisely target the underlying cause of the disease.
“Reducing the disease-causing mutant huntingtin while preserving the healthy protein would be an important breakthrough for the HD community," said Dr. Edward Wild, Principal Researcher at University College London Huntington's Disease Centre, Consultant Neurologist at the National Hospital for Neurology and Neurosurgery, London, and member of the PRECISION-HD Clinical Advisory Committee. "The pre-clinical data for Wave’s targeted compounds are encouraging and I am thrilled that we are beginning to explore the potential of these compounds in HD patients in this exciting programme.”
About Huntington’s Disease (HD)
HD is a debilitating and ultimately fatal autosomal dominant disorder, characterized by cognitive decline, psychiatric illness and chorea. HD causes nerve cells in the brain to deteriorate over time, affecting thinking ability, emotions and movement. HD is caused by an expanded cytosine-adenine-guanine (CAG) triplet repeat in the huntingtin (HTT) gene that results in production of mutant HTT (mHTT) protein. Accumulation of mHTT causes progressive loss of neurons in the brain. Wild-type, or healthy, HTT protein is critical for neuronal function, and suppression may have detrimental long-term consequences. Approximately 30,000 people in the United States have symptomatic HD and more than 200,000 others are at risk for inheriting the disease. There are currently no approved disease-modifying therapies available.
About WVE-120101 and WVE-120102
WVE-120101 and WVE-120102 are investigational stereopure antisense oligonucleotides designed to selectively target the mHTT mRNA transcript of SNP rs362307 (SNP1) and SNP rs362331 (SNP2), respectively. These are the two most common SNPs associated with the mutant allele, which is believed to encompass approximately two-thirds of the HD patient population. In vitro studies in patient-derived cell lines have shown that WVE-120101 and WVE-120102 selectively reduce levels of mHTT mRNA and protein, while leaving wtHTT mRNA and protein largely intact.
About Wave Life Sciences
Wave Life Sciences is a biotechnology company focused on delivering transformational therapies for patients with serious, genetically-defined diseases. Our chemistry platform enables the creation of highly specific, well characterized oligonucleotides designed to deliver superior efficacy and safety across multiple therapeutic modalities. Our pipeline is initially focused on neurological disorders and extends across several other therapeutic areas.
Forward Looking Information
This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995, as amended, including, without limitation, statements regarding the initiation of clinical trials for WVE-120101 and WVE-120102, including Wave’s ability to screen and enroll patients; Wave’s ability to implement its global clinical development plans for WVE-120101 and WVE-120102 for the treatment of Huntington’s disease; the potential benefits of Wave’s allele-specific approach; and Wave’s strategy and business plans. The words "may," "will," "could," "would," "should," "expect," "plan," "anticipate," "intend," "believe," "estimate," "predict," "project," "potential," "continue," "target" and similar expressions are intended to identify forward-looking statements, although not all forward-looking statements contain these identifying words. Any forward-looking statements in this press release are based on Wave management's current expectations and beliefs and are subject to a number of risks, uncertainties and important factors that may cause actual events or results to differ materially from those expressed or implied by any forward-looking statements contained in this press release, including, without limitation, uncertainties inherent in research and drug development, future clinical data and analysis, the decisions of global regulatory authorities as to whether and when to approve any application that may be filed for any of our candidates as well as their decisions regarding labelling and other matters that could affect the availability or commercial potential of such product candidates, the absence of guarantee that the product candidates if approved will be commercially successful, the future approval and commercial success of therapeutic alternatives, our ability to benefit from external growth opportunities and/or obtain regulatory clearances, risks associated with intellectual property, volatile economic conditions, healthcare reform, as well as those discussed or identified in Wave’s public filings with the SEC. These and other risks and uncertainties are described in greater detail in the section entitled "Risk Factors" in Wave’s Annual Report on Form 10-K for the year ended December 31, 2016, as filed with the Securities and Exchange Commission (SEC) on March 16, 2017, and in other filings that Wave makes with the SEC from time to time. Any forward-looking statements contained in this press release represent Wave’s views only as of the date hereof and should not be relied upon as representing its views as of any subsequent date. Wave explicitly disclaims any obligation to update any forward-looking statements.
View source version on businesswire.com: http://www.businesswire.com/news/home/20170717005291/en/
Source: Wave Life Sciences Ltd.
Media and Investors
WAVE Life Sciences
Jillian Connell, 617-949-2981