Jaime and Ed McLaughlin are running the 5-mile Dog Day Race in Long Beach Island, NJ on
August 19th in support of the Amyloid Treatment & Research Program.
Jaime’s Uncle, Vincent Preteroti, passed away at a young age and very suddenly from amyloidosis. The McLaughlin’s goal is to increase awareness and to “run for a purpose” by raising $1,500 for Amyloidosis Research. In addition, Jaime and Ed have become sponsors of the race in memory of Vincent Preteroti.
Donations may be made via the Amyloid Program Website: Donate
When: Sunday, August 26, 2012 (9:00AM – 10:30AM Sign-Up)
Where: Yamaha-Suzuki-Victory of Mineola
336 Jericho Turnpike
Mineola, NY 11501
Phone: (516) 248-5555
Cost: $20.00 per participant
The Nassau Wings Motorcycle Club and the Amyloidosis Support Groups will host the
Eleventh Annual “Pop’s Run” charity motorcycle ride on Sunday, August 26. The Wings have sponsored this event since 2001 after AL amyloidosis touched Pop, one of their members. Proceeds will benefit the Boston University Amyloid Treatment & Research Program.
University Medical Center Groningen, The Netherlands
May 6-10, 2012
The XIIIth International Symposium on Amyloidosis took place in Groningen, The Netherlands from May 6-10, 2012, hosted by Dr. Bouke P. C. Hazenberg and his colleagues. The Symposium was entitled From Misfolded Proteins to Well-Designed Treatment and focused on research on amyloid fibril formation, diagnostic techniques, and treatments for light chain (AL) and familial (AF) amyloidoses, including new treatments and gene therapies. It was a busy four days packed full of talks, posters, and panel discussions. There were a record number of participants, more than 400, of which almost 25% were students, trainees, or young investigators. All of the major medical centers involved in amyloidosis research in the United States were represented, including scientists from the Mayo Clinic in Minnesota; Karmanos Cancer Center in Michigan; Indiana University; Memorial Sloan Kettering Cancer Center, NYU, and Einstein in New York; Tufts; University of Tennessee; University of Pennsylvania; City of Hope, Stanford, UCSF, UCLA, and the Scripps Research Institute in California; Cleveland Clinic in Ohio, Loyola Medical Center in Chicago; the National Institutes of Health; and others. It was truly an international meeting with participants from many other countries including The Netherlands, Italy, UK, Spain, Portugal, Japan, France, Germany, Belgium, Canada, Israel, Sweden, Norway, Bulgaria, Slovenia, Poland, Romania, Switzerland, Brazil, New Zealand, Denmark, Australia, South Korea, Cyprus, Argentina, Lithuania, Turkey, Mexico, Malaysia, Ukraine, and the Czech Republic. It was inspiring to see the interest in amyloid research extending around the world. We benefited greatly from the exchange of basic and clinical research information with other scientists, and importantly, developed new collaborations that have potential to enhance the pace of discovery.
The Boston University Amyloid Treatment and Research Program was well-represented with 15 scientists and trainees, who made a total of 20 presentations. In addition several of our group chaired sessions and gave “state of the art” and “perspective” lectures. On Monday morning Dr. David Seldin chaired the opening session on “Fibril and Amyloid Formation” which featured talks by investigators from Germany, England, Denmark, United Stated, and Sweden on amyloid protein aggregation, fibril formation, and fibril toxicity. In the next session Dr. Amy Leung, a post-doctoral fellow in Dr. George Murphy’s laboratory in the BU Section of Hematology and Center for Regenerative Medicine, presented her work that showed pluripotent stem cells could be made from fibroblasts taken from a patient with TTR amyloidosis and reprogrammed to make liver, heart, and nerve cells. Furthermore, the TTR amyloid protein produced by the new liver cells showed a toxic effect on the heart and nerve cells, which could be abrogated by small molecule stabilizers of TTR such as diflunisal. This system provides a “patient-specific” model that will help us understand the diversity of ATTR disease. This outstanding work was given an award for best presentation by a young investigator. Also on Monday Dr. Jennifer Ward had a presentation on research that showed that treatment with the antibiotic doxycycline can disrupt amyloid fibrils in vitro, and prevent amyloid fibril formation in transgenic mice. This work is the basis for a new clinical trial for our patients.
In the plenary session on TTR amyloidosis, Dr. Lawreen Connors presented the clinical features, laboratory results and survival in the largest group of patients ever studied with age-related amyloidosis. These patients are part of her NIH-sponsored study to investigate the natural history of the disease and to identify biochemical markers and prognostic factors. Michael Greene and Clarissa Koch, both doctoral students of Dr. Connors’, had poster presentations on studies of normal and mutant type transthyretin protein. Michael Greene reported on the interaction of transthyretin with the chaperone protein, clusterin, that added to the understanding of why the two proteins deposit together. Clarissa Koch reported on her research showing the toxic effect of mutant and wild type transthyretin on cultured cardiac cells, and the beneficial effect of adding doxycycline to the cell culture.
Dr. Flora Sam, one of the Amyloid Program cardiologists, presented results of cardiac pulmonary exercise testing in patients with the age-related type of transthyretin amyloidosis that suggested similarities between patients with TTR amyloidosis and patients with cardiomyopathy due to other causes. In a second presentation, Dr. Sam showed that using new cardiac biomarkers, metalloproteimases, she could differentiate cardiomyopathy due to TTR amyloidosis and AL amyloidosis.
Dr. Seldin gave the state of the art lecture in the session on design of targeted molecules and innovative drugs. He reviewed the progress of amyloid research laboratories and pharmaceutical companies towards designing targeted therapies for amyloidosis of all types; the rapid pace of drug discovery in recent years gives new hope for treatment of all types of amyloidosis. Targeted therapies are those that are designed specifically to inhibit the fibril formation of an amyloid precursor protein, examples are diflunisal or tafamidis for TTR amyloidosis and eprodisate for AA amyloidosis. In this session Dr. John Berk presented the Diflunisal Trial and compared the demographics, baseline neurologic staging, and adverse events with those of the Tafamidis Trial (Pfizer). Final results of the Diflunisal Trial must await the study’s completion at the end of this year. Dr. Berk also masterly summarized the challenges of developing new therapies for ATTR in a perspectives talk on Wednesday.
In a plenary session Dr. Vaishali Sanchorawala presented data demonstrating that the risk of a second malignancy in patients with AL amyloidosis treated with lenalidomide is very low. In poster sessions, Dr. Sanchorawala presented the results incorporating bortezomib into high dose melphalan chemotherapy and stem cell transplantation as a highly effective treatment for AL amyloidosis. In a third presentation, Dr. Sanchorawala, on behalf of an international group of investigators, reported the early phase results of MLN9708, an investigational oral proteasome inhibitor, from a trial which is still recruiting patients to evaluate the drug’s efficacy and toxicity.
Our amyloid internist Dr. Andrew Cowan reported on a series of patients with AL amyloidosis who presented with gastrointestinal involvement. Twenty percent of the patients had localized disease only, and although they did not have any major therapy, none progressed to systemic amyloidosis. Dr Cowan also presented data showing that the presence of amyloid deposits in the bone marrow did not impact on stem cell collection or on bone marrow blood cell engraftment after high dose chemotherapy.
Graduate student Yanyan Lu, using mass spectrometry, presented structural data on the light chains in fat deposits. She identified the precise amino acid changes and chemical modifications in the light chains which are linked to the amyloid forming potential of the proteins. Biophysicist Dr. Elena Klimtchuk analyzed the thermal stability of light chains, and demonstrated how changes in the structure of the amyloid light chain lead to misfolding and amyloid fibril formation.
Drs. Olga Gursky and Tatiana Prokaeva reported research studies on rare forms of amyloidosis. Dr. Gursky, a biophysicist, described the crystal structure of human apolipoprotein A-I and proposed how amyloidogenic mutations lead to amyloid formation. Dr. Prokaeva reported on the clinical findings in three cases of a newly discovered type of amyloidosis due to deposition of apolipoprotein A-IV.
Dr. Martha Skinner completed her term as the President of the International Society of Amyloidosis (ISA). She turned over the presidency of the society to Dr. Merrill Benson, leaving the society in excellent shape, with a 50% increase in membership, new electronic initiatives, and a flourishing journal under the Editorship-in-Chief of Dr. Per Westermark. Dr. Skinner continues on the ISA Board as Immediate Past President. Dr. Seldin was re-elected to a position on the ISA Board and appointed by Dr. Benson to Chair the new Membership Committee.
The meeting concluded with a half-day session for patients and their families, attended by approximately 200 Dutch patients and family members, and representatives of the Amyloidosis Support Groups in the U.S., Muriel Finkel and Paula Schmitt. There, Dr. Skinner gave a talk on newer forms of amyloidosis, with her slides and summary translated into Dutch.
We are very grateful to Mr. and Mrs. Samuel Finkielsztein, the family of Mary Miliano, Mr. and Mrs. Peter Wellington, Mr. Charles Young, Mrs. Christine Wright, Mr. Robert Trotter, and the Amyloidosis Foundation for providing travel support. We also thank Mr. and Mrs. Stephen Finkel and Mr. Howard Weitzman for “best clinical research” awards given to young investigators. It is so important for the future of amyloidosis research to have support that allows students, fellows, and junior investigators to participate in the International Symposium and to receive recognition for their work.
“There is an utter lack of medical arrogance,” states Mark Kimble, who is a patient of the Amyloid Treatment and Research Program and a stem cell transplant recipient. “The people at [BMC] are compassionate, and work brilliantly as a team. It is a very healing environment.”
Mark Kimble’s testimony – as well as interviews with Dr. Vaishali Sanchorawala and Dr. David Seldin – was featured in a video presented at the 16th Annual BMC Gala. The Gala was held on May 5, 2012 at the Seaport World Trade Center, and raised over $2.25 million for programs and services at BMC. Event organizers received “endless positive feedback from guests, many of whom cited the video as a highlight.”
To view the Gala video: https://development.bmc.org/page.aspx?pid=579
Impromptu speeches from the event: http://cdn.static.viddler.com/flash/as3/full-publisher.swf?ref=&key=3e3edffa
When: Saturday, May 5th (12:00-3:00pm)
Where: Denver School of Science and Technology – 2000 Valencia Street, Denver, CO 80238
As part of her high school senior project, Sri Ali will raise funds and awareness for amyloidosis.
Sri, who is a senior at the Denver School of Science and Technology, lost three of her grandparents in 2009 – one of whom died of amyloid-related complications. As a tribute to her grandparents, Sri will host a fundraiser to benefit the Boston University Amyloid Treatment & Research Program.
“The purpose of this event is to raise awareness of the disease, and to allow grandchildren to be able to recognize the importance of their relationships with their grandparents before it is too late,” said Sri.
Grandparents Day Event will be held Saturday, May 5th, at the Denver School of Science and Technology, 2000 Valencia Street, Denver, CO 80238, 12 – 3 p.m.
Donations to the Amyloid Program may also be made on our Website.
Thursday, March 29th, 2012 – Today Ann Peel will testify before the United States House Appropriations Committee on Labor HHS. Her testimony tells of her experience with amyloid disease, urges the Committee to identify amyloidosis as an important concern, and encourages research towards finding a cure. She also urges the CDC and NIH to educate the American public and medical profession on the need for early diagnosis.
A copy of Ann’s testimony can be downloaded here: Statement on Amyloidosis by Ann Peel
Our heartfelt thanks go to Ann and Terry Peel for their diligent efforts on behalf of amyloidosis awareness and NIH funding.
Dr. Seldin and two of our patients were featured in an NPR interview last week. You can listen to an audio of this broadcast by clicking here: Rare Disease Feature (WAER 88.3 FM)
The segment aired on February 29th and March 1st in Syracuse, New York (WAER 88.3 FM) on NPR’s flagship news program “All Things Considered.” In observance of World Rare Disease Day, the human interest story features two patients diagnosed with systemic amyloidosis – who share their experiences from diagnosis to treatment and recovery.
Both patients were treated at Boston Medical Center. They credit their physicians for investigating abnormal tests and nonspecific symptoms, and for referring them to amyloid specialists early in the disease course. In his interview, Dr. Seldin underscores the difficulties that patients with orphan disease face, and the importance of physician awareness, early diagnosis, and research.
What: A cappella concert to raise funds for Amyloid Research
When: Saturday, March 24 – 5:00 PM
Where: Murkland Auditorium, University of New Hampshire (Durham, NH)
On Saturday, March 24th at 5:00 PM, the New Hampshire Notables will perform in a benefit concert to raise funds for the Boston University Amyloid Program. The concert will be held at Murkland Auditorium on the University of New Hampshire (UNH) campus. The evening will feature performances by seven a cappella groups – six groups from UNH and a special appearance by the Bowdoin Meddiebempsters.
Tickets may be purchased online through the UNH box office (http://unhmub.com/ticket/) or at the door ($3 for students and seniors 65+ / $5 for non-students). Donations to the Amyloid Program may also be made on our Website.
From I-95 North (Mass.), take Exit 4 (in NH) (left hand exit) to the Spaulding Turnpike (Route 16N), then take Exit 6W (Route 4 West) towards Durham to the Exit for Route 108. At the bottom of the ramp take a Left. Continue straight through the set of lights and bear Right onto Madbury Rd at the top of the hill, continue straight.
You may either:
- Turn Left onto Garrison and go straight through the intersection at the end of the street for parking next to Thompson Hall. – From there Murkland Auditorium is on the other side of Thompson Hall (The building with the clock tower),or
- Continue on Madbury and Turn Left onto Edgewood Rd. There is additional parking on your right at the end of the street. From this lot, head towards the Thompson Hall (the building with the clock tower), as you look straight onto Thomson Hall, Murkland Hall is the Brick/white building directly to the Right of it.
On November, 13 through November 17, an exhibition and sale was held at Temple Beth El in Providence, Rhode Island, in honor of the artist Len Shalansky. The event was organized by Len’s wife, Ruby.
Len was a talented commercial and fine artist who died of systemic amyloidosis in 2011. His work portrayed an understanding of the human spirit and a sense of humor. His clients included Hasbro Toys and the Oxford University Press.
The Shalansky family generously donated all proceeds from the sale to research on amyloidosis at Boston University to support efforts to find a cure for the disease that took Len’s life far too soon.
The Nassau Wings motorcycle group rode to the Boston Amyloid Center from New York City on Saturday, October 15th to deliver a check for $5300. The check was from the “Pop’s Run” fund raising benefit for amyloid research held on August 21, 2011 , an annual event the Wings have sponsored since 2001 after AL amyloidosis touched Pop, one of their members.
The benefit included a motorcycle ride on Long Island, games along the way, a raffle (with major donation of time-share week in Sedona given by Muriel and Steve Finkel), lots of food, and music. Muriel says “The Wings and their fundraiser is one of the highlights of Steve’s and my year.”
Eight members of the Wings, including Jaime Cruz, David Feuer, Julie Knadle, John Simonetti, Lynn Simonetti, Laszlo Bunda, Art Klimczak, and Eddie Santiago, visited us, enjoyed lunch, good conversation, a tour of the laboratory with a research update, and a beautiful sunset at the end of the day. We are so grateful for the steadfast support from this wonderful group of bikers. They have raised an astounding total of $49,500 for amyloid research. Their hard work and generosity are making a difference!