February 28: Rare Disease Forum at Whitehead Institute

In recognition of International Rare Disease Day, we are delighted to host the 2nd annual Rare Disease Forum at Whitehead Institute. Join us for this special event on Thursday, February 28th from 7:30-9:00 pm, to learn about Whitehead’s latest rare disease research and to hear from rare disease advocacy organizations from across New England.

At this year’s Forum, Whitehead scientists Hazel Sive, David Pincus and Sebastian Lourido will each present their research and discuss the vital role that basic biological research plays in developing treatments for rare and devastating maladies.

Following the scientific presentations, geared towards a lay audience, Whitehead Institute’s partner organizations—four non-profit advocacy groups from across New England—will each lead a breakout session to discuss the various challenges and opportunities they face in the advocacy and promotion of rare disease research.

What: Rare Disease Forum
When: February 28, 7:30pm – 9:00 pm; dessert and coffee will be served
Where: Whitehead Institute, Nine Cambridge Center, Cambridge, MA 02142
Dress: Casual
Contact: Lauren Gilbert at (617) 258-5489 or lgilbert@wi.mit.edu

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About our speakers

Hazel Sive
Whitehead Member

Whitehead Institute Member and MIT Professor of Biology Hazel Sive studies embryonic development. Her research on the genetic basis of proper structural formation of the brain has contributed to our understanding of birth defects and developmental disorders. She is currently using the uniquely transparent zebrafish—which enables direct observation of the developing brain—as a tool for identifying genes that may be associated with autism and other mental health disorders.

Sebastian Lourido
Whitehead Fellow

After completing his PhD at Washington University, St. Louis, Sebastian Lourido joined the prestigious Whitehead Fellows program in November 2012 to continue his research on the molecular basis of parasitic diseases. Sebastian and his lab are currently studying the parasite Toxoplasma gondii, which latently infects an estimated 25% of the world’s population and can cause harmful infections in immunocompromised individuals and pregnant women. Toxoplasma also serves as a model for studying Plasmodium, which causes malaria and contributes to more than a million deaths each year.

David Pincus
Whitehead Fellow

Shortly after David Pincus was awarded his PhD from the University of California, San Francisco, Whitehead Institute recognized him as an outstanding young investigator and named him a Whitehead Fellow in 2012. David studies how our cells adapt to environmental changes, such as changes in temperature or pH. The cellular pathways that respond to these changes can be hijacked by various cancers and pathogens—understanding their precise function will be critical to developing targeted therapies for these diseases.

About Rare Disease Day

International Rare Disease Day logo Rare 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 28, 2013 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 and albinism related syndromes. Our programs include funding research, creating and disseminating educational materials, and hosting conferences and medical forums in a pursuit of a cure. Help show your support of Rare Disease Day and the HPSN with a “Dare to be Rare” t-shirt available at http://daretoberare.org/.

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.

Progeria Research Foundation: Progeria is a fatal, “rapid aging” disease that afflicts children, who die of heart disease at an average age of 13 years. Founded in 1999 by the Massachusetts parents of a child with Progeria, The Progeria Research Foundation (PRF) is the only non-profit organization solely dedicated to finding treatments and the cure for Progeria, and is realizing these goals at a remarkable pace: from creation, to gene discovery, to first-ever clinical drug trials, to the first treatment for Progeria – all in just 13 years.

Turner Syndrome Society of the US: The Turner Syndrome Society of the US (TSSUS) is the largest organization connecting women, parents and physicians for the purpose of creating awareness, promoting research and providing support for all persons touched by Turner syndrome. The Society was formed over 25 years ago and today we are a strong membership organization with 24 chapters/ support groups, 100 volunteers and 4,000 on our mailing list. We’re operated by 2 staff members in Houston, 3 consultants and volunteer board members.