Some of the world’s premier stem cell researchers will engage in a spirited discussion of what’s happening right now in stem cell research on Monday, November 14 at 6:30 p.m. at the Washington, D.C. Convention Center. Sponsored by EMD Millipore, the 8th Annual Christopher Reeve Hot Topics in Stem Cell Biology gathering will be held in conjunction with Neuroscience 2011, the Society for Neuroscience’s annual meeting. Throughout the evening, each researcher will highlight a single research topic followed by a brief discussion. This unique, rapid-fire forum moves beyond the scientific stump speech to showcase the state-of-the-art in stem cell research.
Sanford-Burnham's Dr. Evan Snyder
the author and her daughter
Editor’s note: We originally ran this post last summer and it quickly became one of our most popular. In honor of my mother’s birthday, July 14, I’d like to share it with you again (with an updated picture!).
Early one morning eleven years ago, I was visiting some friends while enjoying a break from college, when my dad called to tell me that my mom had died. It was sudden and completely unexpected. She was only 46 years old, healthy and seemingly full of life. My mom just went to work one evening (alone on the late shift) and never came home. As my dad tried to explain to me at the time, she just collapsed and that was it – nobody else was there to know what really happened. It was devastating to me and my family and our lives were forever changed. Not only was she gone, but we never had much of an explanation as to why. What caused her death and could it have been prevented? This was one of the hardest parts for me as both a daughter and as a young scientist. I read the medical examiner’s report myself. It wasn’t a heart attack and it wasn’t a stroke. The cause of death was simply listed as “heart failure.”
That still frustrates me. As I’ve pointed out to countless people in the years since, with all we know about the human body, it’s surprising that cause of death can still be a mystery. “Heart failure” just seems like a catch-all phrase – an easy thing to say when there’s no other explanation. After all, isn’t that what kills us all in the end?
This video of three year-old Corinna is remarkable because it would seem so unremarkable if you didn’t know Corinna’s story—she looks just like any other kid. I had the pleasure of meeting this very special attendee at Sanford-Burnham’s 2nd Annual Rare Disease Day Symposium last February. Corinna was born with hypophosphatasia (HPP), a rare inherited disease that affects bone development, leaving her fragile and unable to walk. Lauren, Corinna’s mother, had brought her along to the symposium and was excited to meet the scientists studying HPP and hear about the latest research.
The family traveled from Philadelphia to be there that day – no small task, considering Corinna’s special needs and lack of mobility. I first talked to Lauren on the phone, helping her with directions from her hotel to the Sanford-Burnham campus. Then I waited for them outside and helped her get the stroller out of the taxi. I set it up while Lauren got Corinna out of the car. Corinna was blond, adorable, friendly—and just about the same size as my own daughter. My heart went out to them. I know how trying it can be to travel with a toddler, even under the best of circumstances.
The Roman Reed Act funds spinal cord injury research in California, where more than 460,000 people live with paralysis.
by Paula Baldin
How can you help support spinal cord injury research?
Write a letter of support for renewal of the Roman Reed Spinal Cord Injury Research Act.
Let your Representative know that you support federal funding for stem cell research.
During a college football game in 1994, young NFL hopeful Roman Reed suffered a debilitating spinal cord injury that left him paralyzed. As a result of this tragedy, Roman and his father, Don C. Reed, created the Roman Reed Foundation to increase awareness of paralysis. The foundation supports studies of both the causes and potential therapies for neurological disorders, especially those aimed at mitigating spinal cord injury through regenerative medicine. The Reeds lobby tirelessly to promote and fund research in this field.
In 2000, the foundation’s work led to California’s Roman Reed Spinal Cord Injury Research Act, which directed $14.6 million in state funds towards spinal cord injury research. Over the past decade, these funds have grown to $63.8 million through donations and other sources, including the National Institutes of Health (NIH).
The Roman Reed Act is now up for renewal and needs your support.
On April 21, Sanford-Burnham will partner with the HeadNorth Foundation for the third time to present Bring It!, a game show-style event that challenges teams to compete in a wide range of challenges. This year’s theme, “Rock on for Stem Cell Research” promises a full evening of networking and fun for a great cause, held at the Del Mar Fairgrounds Activity Center. HeadNorth is a San Diego-based nonprofit dedicated to providing help and hope for spinal cord injury survivors. It was founded in 2006 by Eric Northbrook after a motorcycle accident severed his spinal cord.
Margaret Mortimore has been a physical therapist for 26 years, many of those spent working with children. Each child she helps holds a special place in her heart, but John Taylor Williams IV, lovingly known as Rocket, made a particularly strong impression.
Rocket suffered from a congenital disorder of glycosylation (CDG), which impaired his muscle development and motor skills. “CDG affects nearly all of the body’s functions,” says Dr. Hudson Freeze, a pioneer in CDG research. “It prevents cells from attaching sugars to proteins, a biochemical process that has serious consequences when it does not function properly.”
When Margaret was asked to provide physical therapy for Rocket, she almost refused because her caseload was too large. She did agree to provide a consultation. “As soon as I walked in the door, I knew there was no way I wasn’t going to treat this little guy,” she says.
Sanford-Burnham researchers don’t often get the opportunity to meet patients who benefit from their research. But last month, a four-and-a-half year old girl named Alma came to La Jolla to visit Dr. Hudson Freeze’s laboratory. Alma and her family live in Iran, but were in the United States for six months while she received treatments at the Mayo Clinic. Alma has an inherited genetic disorder that causes her to suffer from developmental problems and a severe skin ailment. For most of her life, the cause of Alma’s health issues was unknown. But that has now changed, thanks to a new study led by Dr. Joseph Gleeson at the University of California, San Diego (UCSD). In the study, which appeared July 15 in the journal Cell, Dr. Gleeson, Dr. Freeze and their colleagues helped identify the gene mutation responsible for Alma’s condition. In doing so, they also uncovered a new inherited disease that will be classified within a family of similar conditions known as Congenital Disorders of Glycosylation (CDG).