February 27: Rare Disease Forum at Whitehead Institute

2/27/14 UPDATE: This event is now over capacity.  We are unable to accept additional registrations at this time.  Please accept our apologies for any inconvenience.

In recognition of International Rare Disease Day, we are delighted to host the 3rd annual Rare Disease Forum at Whitehead Institute. Join us for this special event on Thursday, February 27th at 5:30 pm to hear from leaders in rare and orphan disease research in the Boston area.

This year’s forum will investigate “Curing Rare Childhood Diseases: New Industry and Academic Models” and will feature Whitehead Member Harvey Lodish, Jeffrey Leiden, President and CEO, Vertex Pharmaceuticals, David Meeker, President and CEO, Genzyme, Alan Beggs, Director of The Manton Center for Orphan Disease Research, and David Williams, Chief, Division of Hematology/Oncology and Director of Translational Research, Boston Children’s Hospital.

Following the discussion, Whitehead is hosting a networking session where attendees will have the opportunity to discuss the various challenges and opportunities faced in the advocacy and promotion of rare disease research. We are pleased to be partnering with several rare disease advocacy organizations, noted below, this year.

What: 2014 Rare Disease Forum: “Curing Rare Childhood Diseases: New Industry and Academic Models”
When: February 27, 5:30 pm forum, 7:00 pm networking reception
Where: Whitehead Institute, Nine Cambridge Center, Cambridge, MA 02142
Dress: Casual
Contact: Lauren Gilbert at (617) 258-5489 or lgilbert@wi.mit.edu


Alan Beggs, PhD
Director, The Manton Center for Orphan Disease Research

Alan Beggs is director of The Manton Center for Orphan Disease Research at Children’s Hospital Boston and the Sir Edward and Lady Manton Professor of Pediatrics at Harvard Medical School. He received his AB in biology at Cornell University and his PhD in human genetics at Johns Hopkins University. He completed postdoctoral fellowships in medical genetics at Johns Hopkins University and in clinical molecular genetics at Harvard Medical School, and has directed an independent research laboratory in the Genetics Division at Boston Children’s Hospital since 1992.  Dr. Beggs has led studies to identify the genetic basis for a wide variety of rare conditions with a particular focus on skeletal muscle and its defects in congenital myopathies and related neuromuscular diseases.  Current research is focused on developing next generation sequencing tools for clinical practice and on utilizing genetic approaches in human patients and animal models to understand the pathophysiology and to develop targeted therapies to treat these devastating disorders of childhood.

Jeffrey Leiden, MD, PhD
Chair, President and CEO, Vertex Pharmaceuticals

Jeffrey Leiden joined Vertex’s executive team in December 2011, and has served as a member of Vertex’s board of directors since 2009. Dr. Leiden brings to Vertex more than 20 years of scientific, commercial and financial experience in the pharmaceutical and biotechnology industries and clinical experience in academia as a practicing cardiologist and molecular biologist. Dr. Leiden began his career in academia as a practicing cardiologist and molecular biologist. From 1987 to 2000, Dr. Leiden held several academic appointments, including roles as Chief of Cardiology at the University of Chicago and Professor of Medicine at Harvard Medical School and Brigham and Women’s Hospital. During his academic career, Dr. Leiden was also involved in starting several biotechnology companies including Vical and Cardiogene. Dr. Leiden is an elected member of both the American Academy of Arts and Sciences, and the Institute of Medicine of the National Academy of Sciences. Dr. Leiden received his M.D., Ph.D. and B.A. degrees from the University of Chicago.

Harvey Lodish, PhD
Whitehead Member

Whitehead Founding Member Harvey Lodish’s research areas include red blood cell development, hematopoietic stem cells, and the regulatory roles microRNAs play in the development and function of muscle cells, fat cells, and blood cells. Dr. Lodish’s latest work on microRNAs has shed new light on our understanding of fat cells, resulting in important implications for the treatment of obesity and diabetes.  Dr. Lodish joined the MIT faculty in 1968. He has been a professor of biology since 1976 and professor of bioengineering since 1999. He earned his PhD at Rockefeller University in 1966. He was elected a fellow of the American Association for the Advancement of Science in 1986, a member of the National Academy of Sciences in 1987, and a fellow of the American Academy of Arts and Sciences in 1999. He is a member of the Board of Trustees of Boston Children’s Hospital, and is Chair of the Scientific Advisory Board of the Massachusetts Life Sciences Center, charged with oversight of the state’s 10- year, $1 billion investment in the life sciences. He is also the lead author of the textbook Molecular Cell Biology.

David Meeker, MD
President and CEO, Genzyme

David Meeker was appointed CEO of Genzyme in October 2011. Previously the COO, Dr. Meeker was responsible for Genzyme’s commercial organization, overseeing its business units, country management organization, and global market access functions. Dr. Meeker joined Genzyme in 1994 as Medical Director to work on the Cystic Fibrosis Gene Therapy program. Subsequently, as Vice President, Medical Affairs, he was responsible for the development of therapeutic products, including treatments in the current rare disease portfolio. As President of the Global Rare Disease Business, he oversaw the global launches of Aldurazyme®, Fabrazyme®, and Myozyme®.  Prior to joining Genzyme, Dr. Meeker was the Director of the Pulmonary Critical Care Fellowship at the Cleveland Clinic and an assistant professor of medicine at Ohio State University. Dr. Meeker received his M.D. from the University of Vermont Medical School. He completed an Internal Medicine residency at Beth Israel Hospital in Boston and a Pulmonary/Critical Care fellowship at Boston University. He completed the Advanced Management Program at Harvard Business School in 2000.

David Williams, MD
Chief, Division of Hematology/Oncology and Director of Translational Research, Boston Children’s Hospital

Dr. Williams is the Chief of Hematology/Oncology and Director of Translational Research at Boston Children’s Hospital and Associate Chairman, Department of Pediatric Oncology at Dana-Farber Cancer Institute. He is Director of the Pediatric Hematology/Oncology Fellowship Training Program at BCH/DFCI. After completing his post-doctoral fellowship at MIT Cancer Center and the Whitehead Institute, he was a Howard Hughes Medical Institute Investigator for 16 years and his laboratory has been continuously NIH funded since 1986. His basic research has focused on hematopoietic stem cell biology, including genetic diseases of the blood and specifically molecular and biochemical analysis of the interaction between hematopoietic stem cells and the bone marrow supporting environment.

About Rare Disease Day

International Rare Disease Day logoRare Disease Day is an annual, awareness-raising event coordinated by EURORDIS at the international level and the National Alliances of Patient Organisations at the national level. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. February 2014 marks the sixth international Rare Disease Day.

Partnering Organizations

Association for Frontotemporal Degeneration: The Association for Frontotemporal Degeneration (AFTD) is a not-for-profit organization founded in 2002 to advocate for more funding into the causes and treatments of frontotemporal degeneration, as well as provide caregivers and patients with a dependable source of accurate, reliable information and support. In the 10 years since its inception, AFTD has awarded more than $1.3 million in research grants, hosted several scientific meetings, helped to create a US national repository for data on FTD patients, answered more than 10,000 calls to our Helpline, and created new resources for the patients, families and professionals who live and work with FTD.

Caring for Carcinoid Foundation: The mission of the Caring for Carcinoid Foundation (CFCF) is to discover cures for carcinoid cancer, pancreatic neuroendocrine cancer, and related neuroendocrine cancers. CFCF also works to eliminate the suffering of patients, families, and caregivers affected by neuroendocrine cancers. Since its inception, CFCF has awarded over eight million dollars in research grants to leading scientists at renowned research institutions.

Hermansky-Pudlak Syndrome Network: The Hermansky-Pudlak Syndrome Network is a 501c3 advocacy organization providing support, education and hope to individuals and families affected by Hermansky-Pudlak Syndrome.  We promote and fund research, create and disseminate educational materials, and host conferences and medical forums for our quest for a treatment and our dream of a cure.


National Tay-Sachs & Allied Diseases Association: The National Tay-Sachs & Allied Diseases Association (NTSAD) is one of the oldest patient advocacy groups. They focus on funding research, supporting over 500 families and individuals worldwide, and raising awareness. NTSAD has awarded 48 grants totaling over $2 million, leading to NIH grants of more than $10 million toward finding a cure. There are no treatments today, although the leading research program for Tay-Sachs gene therapy is close to a human clinical trial.

The mission of the Pitt Hopkins Research Foundation (PHRF) is to support research dedicated to finding a treatment, and hopefully an eventual cure of Pitt Hopkins and other similar disorders. Made up of families for families, the PHRF is also dedicated to supporting PTHS children with resource recommendations, parental support and the latest medical information. Our board and officers are parents and professionals who volunteer their time, so that 98% of all funds raised and donated go to finding a cure. Our goal is to find a treatment as quickly as possible that will help give our children fuller, higher functioning lives.  Watch a short, inspiring clip about the foundation here.

VHL Alliance: VHLA is dedicated to research, education, and support to improve diagnosis, treatment, and quality of life for those affected by VHL. VHL or von Hippel-Lindau is a genetic form of cancer. VHL patients battle a series of tumors throughout their lives. The VHL gene is involved in many other forms of cancer. Curing VHL is one step closer to curing cancer!