Leading the Fight to treat and cure Tay-Sachs, Canavan and related diseases
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Dr. Christian de Duve, a Belgian biochemist whose discoveries about the internal workings of cells shed light on genetic disorders like Tay-Sachs disease and helped give birth to the field of modern cell biology, earning him a Nobel Prize, died on Saturday at his home in Nethen, Belgium. He was 95.
The cause was euthanasia, which is legal in Belgium, and which was administered by two doctors at Dr. de Duve’s request, said his son Thierry, who lives in Los Angeles.
Dr. Günter Blobel, a colleague of Dr. de Duve’s at the Rockefeller University in Manhattan, said Dr. de Duve had been “suffering from a number of health problems,” including cancer, and decided to end his life after falling a few weeks ago.
“He wanted to make the decision while he was still able to do it and not be a burden,” Dr. Blobel said.
Beginning in the late 1940s, Dr. de Duve used a centrifuge and other techniques to separate and examine the components of cells. He discovered the lysosome, a tiny sack filled with enzymes that functions like a garbage disposal, destroying bacteria or parts of the cell that are old or worn out.
His discoveries helped unravel the biology of Tay-Sachs disease and more than two dozen other genetic diseases in which a shortage of lysosomal enzymes causes waste to accumulate in cells and eventually destroy them. In Tay-Sachs, a buildup of fatty substances in the brain and other tissues leads to blindness, paralysis, mental retardation and death.
“We are sick because our cells are sick,” Dr. de Duve said.
By Diana Guevara, NBC7, San Diego (view video here.)
For nearly four years, Gavin Marquez of Rancho Bernardo has put up a fight in his battle against Tay Sachs disease. It's a genetic disorder that progressively destroys nerve cells in the brain and spinal cord.
“One day everything looks pretty and the next day you're hit by a train and you didn't even see that train coming,” said Jan Marquez, the boy’s mother.
Now 7 years old, Gavin is bedridden. His family has to feed him intravenously, while keeping a close eye on his respiratory system. “You could just swallow your saliva, he can't,” said his mother.
There is no cure for what he is going through. But despite this hardship, the family has held out hope doing all they can to raise awareness about Tay Sachs. Not only to help their son, but other families as well. "She has such strength and focus and courage in the face of devastating heartache,” said Kim Kubilus, with the National Tay Sachs and Allied Diseases Association. “Her whole family is truly an inspiration to all of us,” she added. Which is why for the first time in more than a decade the National Tay-Sachs conference has decided to come to San Diego.
"It’s an opportunity for the families to come together meet face to face share care tips, about coping and develop those strong bonds with other families,” said Kubilus. It is a sense of comfort, support and most of all hope during some of the darkest days.
“The way I see it, is like if you don't have hope then it's almost like you're burying your child,” said Marquez. “So the hope is what keeps me alive keeps me going. That hope is that possibility that there is a cure [and] that's worth it all.” The goal for these families is to raise enough funds for
gene therapy. Many of them hope they can begin treatment next year.
Meanwhile, the National Tay Sachs & Allied Diseases Association will continue their conference until Sunday April 7 at the Marriott in Mission Valley.
For more information you can visit their website.
Local family battles Tay-Sachs disease, fights to save son's life
Annual Tay-Sachs conference begins Thursday in SD
Posted: 04/05/2013 Last Updated: 5 days ago
Melissa Mecija |
SAN DIEGO - The annual conference to support those suffering from Tay-Sachs disease is in San Diego this weekend.
10News spoke with one local family who shared their message of hope to save their son.
7-year-old Gavin Marquez cannot walk, talk and must eat through a feeding tube.
"He's fighting every day," said Gavin's mother, Jan Marquez.
The family home in 4S Ranch has turned into a makeshift hospital, with medical equipment next to family photos.
Gavin has Tay-Sachs, a deadly and inherited disease. His mother says Gavin is one of only three children in the county with Tay-Sachs. It is a rare, inherited disorder with destroys the nerve cells.
"When you have a child with Tay-Sachs disease, especially as rare as it is, you're almost like living in a bubble," said Marquez. "Nobody can relate to you, nobody can understand you, nobody can be in your shoes or want to be in your shoes."
The film will premiere on April 4th at the Annual Family Conference in San Diego.
Through a generous grant from Genzyme—a Sanofi Company—we are delighted to offer the film and resource guide FREE to families coping with any life-limiting diagnosis. We will begin accepting requests on April 15th.
NTSAD is deeply grateful to Genzyme—a Sanofi Company for the generous Patient Advocacy Leadership Awards Innovation Grant to support this project.
Shari Ungerleider, PresidentBrian Manning, Executive Vice PresidentRuth Feldman, Director-at-LargeFlory Roman, co-Vice President, Membership
We are happy to welcome Joan to the NTSAD family! She's a results-driven development professional with over 20 years experience and she's ready to help NTSAD raise more funds to continue expanding research, supporting families and raising awareness. She has many ideas and always welcomes more so feel free to contact her at
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