We need you to ride with us for APBD research on May 20th in Philidelphia
Greetings from the ODC!
Registration for the 2018 5th Annual Million Dollar Bike Ride is now open! Please follow this link to register for the ride, which takes place on Sunday, May 20, 2018.
Feel free to share the above link with others, and post to your social media sites!
Registration “With Fundraising”:
The fee for registration “With Fundraising” is $25.00 Please remember that if you select registration “With Fundraising”, there is a required fundraising minimum of $250. It is expected that the minimum will be met by May 20, 2018. You can select a team and raise funds for a specific disease, or you can register as “Independent”. The money raised by the independent group will be split among all disease teams. Once registered, the link above will guide you in setting up your Giving Page.
Registration “Without Fundraising”:
You can also choose to register “Without Fundraising”. The fee for this option is $60.00. Please note: this price will jump to $80.00 on April 1st.
If you have any questions, please email Samantha Charleston (email@example.com).
Thank you, and we look forward to seeing you on your bikes in May!
Orphan Disease Center
University of Pennsylvania
APBDRF takes part in the Ultragenyx Rare Disease Summit as we begin the drug development phase of our research
NORD Breakthrough Summit in Washington, D. C.
Dr. Orhan Akman, Jeff Levenson and Lori Weiss all attended the NORD Breakthrough Summit in Washington, D. C., October 16-17, thanks to grants from NORD and the APBDRF. Dr. Akman presents a poster board abstract on Guaiacol.
$30,000 Challenge grant announced
The Coddon Family Foundation ($20K) and the Levenson-Greenberg Family Foundation ($10K) have generously agreed to match the first $30,000 donated to the 2017 APBD- NYC Marathon Fundraiser.
The funds will be dedicated to bringing clinical trials to APBD and allied disease patients.
We’re Almost There
Please donate any amount and help us take advantage of this doubling opportunity.
Thank you Robert Zuckerman for your wonderful photograph.
2017 APBD- NYC Marathon Fundraisers
More info: http://bit.ly/JojoandChloerun4APBD2017
Hadassah Magazine ad stimulates 100 requests for testing
THE BETSY HOTEL features THE ART OF ROBERT ZUCKERMAN
Artist Reception, Movie Screening, and Q/A – 9/28 at 6 PM
Join us to celebrate the creativity of one of Miami’s own, photographer Robert Zuckerman (www.robertzuckerman.com), a celebrity photographer whose personal struggle with APBD (Adult Polyglucosan Body Disease) has made him wheel-chair bound – and inspired a documentary that has received significant film festival accolades.
The challenges he faces every day would have been insurmountable for most, but not for Robert who has become an inspirational figure through his many youth empowerment projects in the Miami Dade Schools, and beyond, as he is also a Distinguished Visiting Fellow at FIU.
The Betsy Hotel features 400+ of his works throughout the property and will screen his documentary: on September 28 from 6 to 8:30 PM. Jean Font, The Betsy’s in-house visual arts specialist will lead a docent tour and a q/a with the artist.
This event is free but only 20 spots remain. Please rsvp to firstname.lastname@example.org, The Betsy Hotel is located at 1440 Ocean Drive, Miami Beach. Valet parking available
ABOUT THE BETSY HOTEL – The Betsy-South Beach (www.thebetsyhotel.com) (www.betsywritersroom.com) is well regarded for its promotion of culture and art through a unique philanthropy, arts, culture and education program (PACE), which is the driving force behind the four-star luxury hotel’s mission. The recently expanded 130 room boutique resort hotel debuted two new public art pieces in 2017: The Betsy Orb and Poetry Rail. Recent awards for luxury hotel excellence include: Travel and Leisure’s Top Boutique Hotel on Miami Beach (2017), and Conde Nast Gold List (2017), among many others. A 2017 recipient of the Americans for the Arts BCA 10 Award for exemplary arts programming, The Betsy – South Beach is on a mission to redefine hospitality with music, art exhibitions, readings, book signings, guest room libraries, poems placed on pillows at turn down each night, and charitable collaboration (since 2009) with hundreds of charitable organizations in South Beach, and beyond. The Betsy-South Beach is family owned and operated by Jonathan Plutzik and Lesley Goldwasser.
Media requests: Betsy@JPublicRelations.com
GBE1 mutation carrier frequency from Mount Sinai School of Medicine
Recent numbers for the GBE1 carrier frequency in the Ashkenazi Jewish population remained consistent with the previous results: 1 in 49 (110 carriers out of 5428 individuals).
The overall frequency was ~1 in 120 (263 carriers out of 31803 tested).
“Life Through a Lens” was accepted as an official selection to the 2017 Global Impact Film Festival
APBDRF’s 11 minute Short Documentary “Life Through a Lens” was accepted as an official selection to the 2017 Global Impact Film Festival and will have its Washington DC Premier on the weekend of August 25th.
“Life Through a Lens” follows the journey of photographer Robert Zuckerman, an APBD patient, as he searches for and finds his rare disease diagnosis, and then how he has chosen to face his diagnosis and live life to the fullest. As the film captures, Robert empowers those living with the challenges, physical and otherwise, brought on by APBD and all debilitating diseases. His ability to harness optimism and possibility in life is inspiring and revelatory.
New grant from the Israel Ministry of Science and Technology
Dr. Or Kakhlon, Prof. Amiram Goldblum, from the Hebrew University and Prof. Miguel Weil from Tel Aviv University have received a 1.24 M NIS ($347,000) grant from the Israel Ministry of Science and Technology to study Multi-targeting drug discovery and image-based phenotyping as new strategies for treating glycogen storage disorders.
Announcing the APBDRF documentary “Life Through a Lens” A Robert Zuckerman Story has received an impact doc award.
We hope this will bring attention APBD and Allied diseases.
We accept the impact doc award on behalf of all those that suffer with rare diseases like APBD.
Impact DOCS Awards is in its inaugural year and is the newest member of the Global Film Awards (GFA) family of competitions. One of the original digital competitions setting the standard for many followers, GFA’s Accolade was named by MovieMagazine as one of the top 25 festivals worth the entry fee. It is truly international in scope offering filmmakers from large powerhouses like Disney, The Weinstein Company, Discovery and Ridley Scott all the way to first time filmmakers and students, the opportunity to receive valuable feedback from an impartial judging panel comprised by highly qualified and award winning professionals in the industry. Often the first stop on the festival circuit, GFA award winners have gone on to win Oscars like the short doc “The Lady in Number Six” and “Mr Hublot” as well as countless Emmys, Tellys and more.
Impact DOCS recognizes media professionals who demonstrate exceptional achievement in craft and creativity, and those who produce standout entertainment or contribute to profound social change. Entries were received from 31 countries and included seasoned documentarians including Emmy and Oscar winners – especially the “Best of Show” winning entry – Academy Award winner Louie Psihoyos (The Cove) for his powerful new film Racing Extinction.
Information about the Impact DOCS Awards and a list of recent winners can be found at ImpactDocsAwards.
Rick Prickett, Competition Director for Impact DOCS, had this to say about the winners, “The judges and I were simply blown away by the variety and immensely important documentaries entered in our inaugural season of Impact DOCS. We received a large number of superbly crafted documentaries that will help shape the future of our planet by bringing important subjects and messages to the masses. As with our other competitions, Impact DOCS is not an easy award to win. Entries are received from around the world from large companies to remarkable new talent. Impact DOCS helps set the standard for craft and creativity. The judges are committed to recognizing exceptional craft with an emphasis on tackling the critical issues of our times. The goal of Impact DOCS Awards is to help winners achieve the recognition they deserve.”
Please Join the Orphan Disease Center and Global Genes on Friday, May 19th for the 2017 Rare Patient Advocacy Symposium in Philadelphia! Click below to register, space is limited!
The Case for Guaiacol
On February 28, 2017 Dr. Wyatt Yue gave a 5-minute “Lightning Round” presentation about the repurposing of Guaiacol at the Findacure conference in London. He gave attributions to Dr. Orhan Akman and Dr. Or Kakhlon. You can see the presentation below.
With deep appreciation the APBDRF acknowledges the @findacure_fnd @Nick_Sireau and Rick Thompson for their exemplary leadership in raising awareness and supporting rare disease research.
APBDRF Film “Life through a lens” will screen at WILLiFEST
See you in Williamsburg
12:30pm – 2:30pm
Listen (Music Video)
Life Through A Lens
Diary of a Girl
Juana and Cande: A Dominican Family Portrait
NORD Announces 20 Rare Disease Patient Groups Selected to Develop Natural History Studies as Part of FDA Cooperative Agreement
NORD, the leading, independent nonprofit organization committed to helping people and families affected by rare diseases, today announced the 20 patient groups that will be given the opportunity to develop a natural history study, funded in part by a cooperative agreement with the FDA, through NORD’s Natural History Study research platform.
“Our goal is for the 1 in 10 Americans with rare diseases, most of whom are children, to have a treatment and cure, and we developed NORD’s Natural History Study platform to eliminate challenges standing in the way of that target,” said NORD President and CEO Peter L. Saltonstall. “We thank the FDA for its support of NORD and ongoing commitment to rare diseases.”
The 20 patient groups are: Hereditary Neuropathy Foundation, Organic Acidemia Association, XLH Network, Inc., CCHS Family Network, Pitt Hopkins Research Foundation, The OMSLife Foundation, Platelet Disorder Support Association, Global Foundation for Peroxisomal Disorders, APS Type 1 Foundation, Scleroderma Research Foundation, Galactosemia Foundation, Desmoid Tumor Research Foundation, International Pemphigus & Pemphigoid Foundation, The Morgan Leary Vaughan Fund, Adult Polyglucosan Body Disease (APBD) Research, Bridge the Gap-SYNGAP Education and Research Foundation, United Leukodystrophy Foundation, AMENSupport, Lipoprotein(a) Foundation, and Worldwide Syringomyelia & Chiari Task Force.
Dr. Or Kakhlon, of Hadassah-Hebrew University Medical Center and Prof. Miguel Weil, Ph.D. of Tel Aviv University have been awarded a biannual $343,000 grant from the Israel Chief Scientist to study the effect of new compounds in APBD
We are happy to announce that Dr. Or Kakhlon, of Hadassah-Hebrew University Medical Center and Prof. Miguel Weil, Ph.D. of Tel Aviv University have been awarded a biannual $343,000 grant from the Israel Chief Scientist to study the effect of new compounds in APBD modeling mice. The compounds were discovered at The Cell Screening Facility for Personalized Medicine (TAU), using high throughput screening (HTS) processes.
This grant is the largest single grant ever awarded for APBD research, surpassing a 2013 grant from the Association Francaise contre les Myopathies (AFM), which was awarded in 2013.
Recognition and deep thanks to Orly Shani and our sister Israeli charitable organization IsrApbdf for promoting this and other APBD research opportunities.
The APBD community raised $50,000 for the University of Pennsylvania’s Million Dollar Bike Ride for rare disease research.
In addition, we are proud to report that the patients, friends, family members, and colleagues of the APBD community raised $50,000 for the University of Pennsylvania’s Million Dollar Bike Ride for rare disease research. Due to the unique provisions of the event, whereby UPenn matches the fundraising on a dollar-for-dollar basis, grants totaling $100,000 will be awarded on January 1, 2017.
Co-Captains Susan Coddon and Harriet Saxe organized the fundraising efforts and marshaled our 15 dedicated riders in Philadelphia, Pennsylvania, on May 7th.
“LIFE THROUGH A LENS” (Short Documentary on Robert Zuckerman and APBD) at the Los Angeles Reel Film Festival- wins first prize
We are pleased and proud to announce that “Life Through A Lens”, which tells the story of one person’s journey with APBD (Adult Polyglucosan Body Disease), a rare, untreatable, debilitating genetic disease, has been accepted to The Los Angeles Reel Film Festival AND has been awarded FIRST PLACE in the Festival’s Short Documentary Category.
Screening information is below. If you wish to make a tax-deductible donation to support research for a cure for APBD, please email email@example.com or go to www.apbdrf.org.
13500 Ventura Blvd.
Sherman Oaks CA 91423
May 18th 2016
“ Extortion ” Dir. Robert Jaffe
“ Dallas, Sunday Morning ” Dir. Will Ilgen
“ Savages ” Dir. Martin Desmond Roe & Nick Frew
“ Life Through A Lens ” Dir. Jeffrey Levenson & Ronete Levenson
“ Now They Not ” Dir. Kelsey Amara
“ Mirror ” Dir. Dustin Biren & Thomas Ouziel
“ Bye Bye Bernard ” Dir. Jack Martin
“ Two Hundred Percent ” Dir. Ryan S. Porush
TO PURCHASE ADVANCE TICKETS (RECOMMENDED) and for further information: http://lareelfilmfest.com/Screening.html
APBDRF documentary “Life through a Lens” world premiere at Manhattan Film Festival
We are so very excited that our documentary “Life Through a Lens” was accepted for its worldwide premiere at the Manhattan Film Festival (MFF) in April. MFF was recently named among “The Coolest Film Festivals in the World.” “Life Through a Lens” follows the journey of photographer Robert Zuckerman, an APBD patient, and how he has chosen to face his diagnosis and live life to the fullest. As the film captures, Robert empowers those living with the challenges, physical and otherwise, brought on by APBD and all debilitating diseases. His ability to harness optimism and possibility in life is inspiring and revelatory.
APBDRF now a participating organization of TRAIN
We are pleased to announce that the APBDRF is now a participating organization of The Research Acceleration and Innovation Network (TRAIN), a FasterCures program established to create opportunities for medical research innovators to discuss and tackle the challenges that cut across diseases. TRAIN is a unique network of patient-driven nonprofit foundations that fund medical research across a spectrum of diseases. They represent the kind of organizations that are fast becoming the engine behind innovation in disease research – collaborative, mission-driven, strategic in their allocation of resources, and results-oriented. The APBDRF is excited to join innovative patient foundations in #FCTRAIN as we tackle challenges across diseases train.fastercures.org
Genetics Educator and Outreach Coordinator
Part Time, Telecommute
More info: http://bit.ly/geneticjob
World Orphan Drug congress 2015
APBDRF invited the Israeli APBD community on Sunday October 18th at 2 pm to an event at the Porter Center in Tel Aviv University.
30 people attended representing a dozen APBD families.
1)Welcome and a few words about the APBDRF – introductions were very moving.
2) Preview of the 11 minute documentary “Life through a Lens”. Robert Zuckerman attended from Miami via Skype to introduce a rough draft screening. See his comments in another post.
> This is a film about one person’s journey with APBD and how he has chosen to face it. Robert and the filmmakers hope to empower those living with the challenges of APBD and all debilitating diseases and harness richness and possibility in life.
3)Dr. Or Kakhlon and Pepticom presentation on their research. They have designed a peptide which appears to stabilize Y329S, the most common mutation found in all diagnosed APBD patients.
4) Prof. Miguel Weil, the head of the Laboratory of Neurodegenerative Diseases & Personalized Medicine where our high content screening facility is located and with whom I collaborate on APBD research, will talk during the meeting on our new personalized approach for finding a cure to APBD using high content screening after which there we will take a tour of the Tel Aviv University facility where the High Content Screening takes place.
thank you to Rafi Segal for arranging this and giving us the opportunity to meet.
Dr. H. Orhan Akman: RGI BeHeard Grant Winner
The Rare Genomics Institute (RGI) is a non-profit organization that helps leverage the resources of industry and academic partners to promote research discoveries related to rare diseases. Its division, BeHeard, (Helping Empower & Accelerate Research Discoveries) offers premium biotechnology prizes to rare disease researchers.
Dr. H. Orhan Akman, Associate Research Scientist at Columbia University Medical Center in New York, has won a grant from the 2015 BeHeard Challenge. Dr. Akman’s grant is related to the mouse models he develops for APBD research. Dr. Akman, your work means so much to the APBD community. Congratulations!
Frequent misdiagnosis of adult polyglucosan body disease. – PubMed – NCBI
Hellmann MA, et al. J Neurol. 2015.
House overwhelmingly passes 21st Century Cures Act – Modern Healthcare
21st Century Cures (H.R. 6) bill passes in House by vote of 344-77Washington, D.C. – July 10, 2015 – The following statement was issued by Peter L. Saltonstall, President and CEO of the National Organization for Rare Disorders (NORD), on today’s approval by the House of the 21st Century Cures legislative initiative.
Today’s passage in the House of the 21st Century Cures (H.R. 6) bill is a huge win for the rare disease community, which actively supported the legislation. By promising mandatory funding for the NIH, strengthening the FDA’s ability to streamline the clinical trials process, and further incentivizing the development of orphan products, 21st Century Cures will help pave the way for developing new cures and treatments, thereby closing the gap for the vast majority of the 7,000 rare diseases that currently have no approved treatment. The legislation positions the U.S. to be the continued international leader in medical product innovation.
NORD congratulates the House, Energy & Commerce Committee and the other groups who worked to help this initiative pass. Today’s vote underscores the bipartisan commitment to move this legislation through the House and we hope the same spirit of collaboration leads to prompt development of similar legislation for consideration by the Senate.
Peter L. Saltonstall
President and CEO, National Organization for Rare Disorders (NORD)
May 17th, 2015
Congratulations to Dr. Heather Lau APBDRF Scientific Advisory Board member for being awarded a NTSAD grant.
Co-funder: The Canavan Foundation
* To define and categorize clinical endpoints that may be used for the development of clinical therapeutic trials.
APBD Now Included!
Mount Sinai’s Genetic Testing Laboratory will now include APBD as one of 58 disorders in their comprehensive Askenazi Jewish Carrier Screening
Dr. Orhan Akman presents new Second APBD mutation discovery at American Association Neurology meeting April 2015 Washington, D.C.
11th Annual APBDRF Scientific Advisory Board Meeting April 15, 2015 NYC – abstracts
APBDRF Accepted into NORD
As of February 2, the APBD Research Foundation was accepted as a member organization in NORD, the National Organization for Rare Disorders. Through NORD, member organizations gain a stronger voice in rare disease visibility, advocacy, policy development, education, and research support. Becoming a NORD member reflects well on the APBDRF. Acceptance was by no means a shoe-in. NORD reviewed and approved of our organizational infrastructure, as well as our actual work on behalf of APBD patients. They confirmed that the research foundation has appropriate by-laws, board membership, scientific advisors, financial budgeting, board meetings, and record-keeping. They reviewed our Annual Report and the educational materials that we distribute. We’re quite proud of this achievement. Our thanks go to the many hands who developed our application package
Rare Disease gets the Spotlight
APBD is awarded Guidestar Level: Silver
Great News. The APBD Research Foundation has recently earned the Silver participation level from the GuideStar Exchange. This is a testament of the Foundation’s commitment to datatransparency. Guidestar collects, organizes, and presents the information on charitable organizations in an easy-to-understand format. By providing up-to-date information to GuideStar, we are ensuring that timely and accurate information about the APBDRF reaches the 10 million annual visitors to GuideStar’s website and millions of other viewers reached through GuideStar’s network of donation providers, search engines, donor advised funds, foundations, and more. This enables potential donors and grant providers with vital information about the Foundation.