Tag Archives: progeria

Celebrating Science

Excerpt of a blog post by Dr. Tom Insel, Director of the National Institute of Mental Health.

(From NIMH blog)

(From NIMH blog)

The Research!America awards dinner is like a lot of DC galas, complete with members of Congress, celebrities, and speeches to honor those who have contributed to a cause.  For Research!America, the cause is biomedical research and this year, as in each of the past 25 years, there were honors bestowed on advocates for cancer and rare diseases.  Kathy Giusti, diagnosed with multiple myeloma in 1998, spoke passionately about the lack of research on this blood cancer and her singular fight to create a registry and clinical trials, leading to new treatments that have extended her own life and the lives of many others well beyond all predictions.  The parents of Sam Berns, an icon for the rare disease progeria, spoke of their son’s commitment to find a cure for this disorder in which children age rapidly and die early.  Sam died last month at age 17, but during his brief life, and partly through his efforts working with the world’s foremost genetics labs, the genetic cause was found and new treatments were developed that will almost certainly extend life for others with this rare mutation (see Sam’s inspirational Ted talk ).

For me, what made this event different from previous years was the recognition of advocates for people with mental illness.  The actress Glenn Close was recognized for co-founding BringChange2Mind, a campaign to reduce negative attitudes toward those with mental illness.  In her eloquent remarks accepting the award, Glenn introduced her sister, Jessie Close, and her nephew, Calen Pick, who each battle serious mental illness.  Jessie has struggled with bipolar disorder and Calen with schizophrenia.

When Glenn invited Jessie and Calen to make a few remarks, the evening really became historic.  Together, they described a journey undertaken with Deborah Levy and her colleagues at McLean Hospital and elsewhere over the past 3 years.   The research team found that Calen and Jessie shared a rare genomic copy number variant resulting in extra copies of the gene for glycine decarboxylase.  This gene encodes the enzyme that degrades glycine, a key modulator of the NMDA receptor, which has been implicated in psychosis.  Having extra copies of this gene, it seemed possible that Jessie and Calen would be deficient in glycine, with less activity of the NMDA receptor.

Read the full post here.

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A Weekly Advocacy Message from Mary Woolley: Promising process; disappointing progress

Dear Research Advocate:

The omnibus appropriations bill about to become law demonstrates that bipartisanship and pseudo-regular order is achievable. We won’t know for sure if we have true “regular order” until Congress proceeds through the FY15 appropriations process in a timely manner — something that hasn’t happened for many years. The importance of regular order is that the public’s interests are heard from in hearings, and every Member of Congress participates in priority-setting instead of only having the opportunity to cast a single up-or-down vote. Regular order is worth working toward, since at least one priority we all care about did not fare well in the omnibus.

The omnibus has failed to fund NIH at a level that fully reverses the impact of sequestration on the agency’s baseline funding level, much less establishes a growth trend that can fully unleash the potential inherent in the sequencing of the human genome and other research breakthroughs. As Drs. Paul Stoffels and Alan Leshner make crystal clear in an op-ed in Politico Magazine, we can’t settle for “better than sequestration.” If our nation wants to thrive, we need to grow our investment in science. Between 2010 and 2013, U.S. federal investments in science fell to less than 1% (.82%) of the economy. That’s the lowest it’s been in 50 years! As you know, this comes at a time when foreign nations are rapidly ramping up their R&D programs and taking a page from our playbook. Remember that global competitiveness in medical research is a pivotal determinant of our global economic competitiveness overall. We aren’t just talking about the future of our scientific enterprise, we are talking about the future of our economy. Are we truly willing to cede leadership in global R&D? (See also our statement cited in The Hill and other media outlets, as well as my interview today with UDC.) Continue reading →

Research!America Honors Leaders in Medical and Health Research Advocacy

Glenn Close, Dr. Leroy Hood, Dr. Reed Tuckson, Kathy Giusti and the Progeria Research Foundation to Receive 2014 Research!America Advocacy Awards

ALEXANDRIA, Va.-October 22, 2013-Research!America’s 18th annual Advocacy Awards will honor extraordinary advocates of medical and health research who are distinguished in their commitment to advancing medicine and health. The event will take place on Wednesday, March 12, 2014, at the Andrew W. Mellon Auditorium in Washington, DC, as a part of Research!America’s 25th anniversary commemoration.

The 2014 Advocacy Award winners are actress Glenn Close and her family; Leroy Hood, MD, PhD, president, Institute for Systems Biology; Kathy Guisti, founder and CEO of the Multiple Myeloma Research Foundation (MMRF); Reed Tuckson, MD, managing director, Tuckson Health Connections; and The Progeria Research Foundation (PRF). The winner of the Edwin C. Whitehead Award for Medical Research Advocacy will be named by Research!America’s Board of Directors later this year.

“This year’s honorees have transformed the lives of many individuals across the country through their remarkable achievements and advocacy for medical and health research,” said Mary Woolley, president and CEO of Research!America. “Their unwavering dedication is helping to elevate research in the national conversation and inspire a new generation of advocates.” Continue reading →

Life According to Sam

SamNext Monday, October 21 at 9:00 pm EST, HBO will debut LIFE ACCORDING TO SAM, the story of Sam Berns, a young boy with an extremely rare and highly-rapid aging disease called Progeria, and his family’s 13-year fight to find a cure.

This film tells a story not only about the love of physician parents trying to save their son – it also portrays a winding journey throughout the scientific process and the pivotal role that medical innovation plays in our lives. In the film we see children with Progeria gather in Boston from around the world – all expected to live no longer than 13 years – to receive treatment and participate in a first-of-its-kind clinical trial.

The film’s Oscar®-winning Directors Sean Fine and Andrea Nix Fine have earned multiple awards for LIFE ACCORDING TO SAM, winning the “Best of Fest” at the AFI Docs Festival in Washington, DC; the Audience Award at the Nantucket and Martha’s Vineyard Film Festivals the Best Storytelling Award at Nantucket and Best Feature Documentary at the Woods Hole and Rhode Island International Film Festivals.

The Progeria Research Foundation, a Research!America member, is leading the fight to find better treatments – and ultimately the cure – for Progeria, the rare and fatal “rapid aging” disease affecting children around the world.

You can learn more online, visit their Facebook page and follow them on Twitter.