Children's Health Archives - Sanford Burnham Prebys
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Is cloud computing a game changer in cancer research? Three big questions for Lukas Chavez

AuthorMiles Martin
Date

February 22, 2023

As an assistant professor at Sanford Burnham Prebys and director of the Neuro-Oncology Molecular Tumor Board at Rady Children’s Hospital, Lukas Chavez, PhD, leverages modern technology for precision diagnostics and for uncovering new treatment options for the most aggressive childhood brain cancers.

We spoke to Chavez about his work and asked him how modern technology—particularly cloud computing—is shifting the approach to cancer research.

How are you using new technologies to advance your research?

New technologies are helping us generate a huge amount of data as well as many new types of data. All this new information at our disposal has created a pressing need for tools to make sense of it and maximize their benefits. That’s where computational biology and bioinformatics come into play. The childhood brain cancers I work on are very rare, which has historically made it difficult to study large numbers of cases and identify patterns.

Now, data for thousands of cases can be stored in the cloud. By creating data analysis tools, we can reveal insights that we would never have seen otherwise. For example, we’ve developed tools that can use patient data in the cloud to categorize brain cancers into subtypes we’ve never identified before, and we’re learning that there are many more types of brain tumors than we’ve previously understood. We’re basically transforming the classic histo-pathological approach that people have studied for decades by looking at tumor tissues under the microscope and turning that into data science.

How is cloud computing improving cancer research in general?

Assembling big datasets delays everything, so I believe the main idea of cloud computing is really to store data in the cloud, then bring the computational tools to the data, not the other way around.

My team did one study where we assembled publicly available data, and basically downloaded everything locally. The data assembly process alone took at least two to three years because of all the data access agreements and legal offices that were involved.

And that is the burden that cloud computing infrastructures remove. All of this personalized cancer data can be centrally stored in the cloud, which makes it available to more researchers while keeping it secure to protect patient privacy. Researchers can get access without downloading the data, so they are not responsible for data protection anymore. It’s both faster and more secure to just bring your tools to the data.

Are there any risks we need to be aware of?

Like any new technology, we need to be clear about how we use it. The technology is another tool in the toolbox of patient care. It will never entirely replace physicians and researchers, but it can complement and assist them.

Also, because we use costly and sophisticated tools that are being built and trained on very specific patient groups, we need to be careful that these tools are not only helping wealthier segments of society. Ideally, these tools will be expanded worldwide to help everybody affected by cancer.

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Professor Hudson Freeze helps dreams come true for rare disease patient

AuthorHelen Hwang
Date

February 27, 2018

When Morgan Webb Liddle is riding a horse, it’s one of the only times she feels “free,” she says. “I was born to ride,” says Morgan, 25, who uses a wheelchair. Morgan and her mother Merell Liddle flew from Australia to attend SBP’s Rare Disease Day Symposium and Family Conference in February 2018.

During their trip to San Diego, Hudson Freeze, PhD, professor and director of SBP’s Human Genetics Program, arranged for Morgan to meet Olympic equestrian Steffen Peters. When they met, Morgan literally cried tears of joy. Freeze has been working with Morgan’s family to find a treatment for Morgan’s disease.

At Arroyo Del Mar Stables, Morgan received expert dressage coaching from Peters, who won a bronze medal in Rio de Janeiro. Morgan rode on a chestnut beauty named Bailarino, owned by Akiko Yamazaki, who gave Morgan special permission to ride her horse every day while she was attending the Rare Disease conference. Peters, impressed by Morgan’s riding, said, “What you do is much more amazing than what I do.”

Morgan suffers from CDG—which stands for congenital disorder of glycosylation—a disease that disrupts how the body’s sugar chains attach to proteins. Freeze is working on finding a cure for CDG. Liddle is one of the few adult CDG patients since many succumb to the potentially fatal effects of the metabolic disorder as children.

Her mother says, “Morgan has virtually no sense of balance. She does an amazing job just staying on the horse. She is currently working on new ways to ride because she has difficulty seeing the edges of the arena and the letter markers because of her poor peripheral vision.” Nevertheless, Morgan aims to compete in the Para-Olympics one day. Morgan has already won the Australian National Championship for Para-Dressage multiple times.

When Morgan was 14 years old, she was finally diagnosed for CDG after her physical and neurological condition began to worsen rapidly. Knowing the diagnosis was a huge relief for Morgan’s family since doctors were stumped by her illness. Freeze is one of the few experts in the world who helps diagnose and research treatments for CDG patients. “Hud has been amazing,” says Morgan’s mother.

“We share a special kinship,” says Freeze, who grew up with a disabled sister. “When I first met Morgan, she reminded me of my sister.”

For the symposium’s reception, Morgan performed a modern lyrical dance performance, while Freeze sang ABBA’s “I Have a Dream.” As the scientist and patient were preparing for their performance, Freeze said to Morgan, “We share a dream—to find a treatment for CDG.”

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New marker can help sick kids

Authorsgammon
Date

January 12, 2016

There are more than 7,000 rare diseases, but congenital disorders of glycosylation (CDGs) are among the cruelest. One particular condition, called ALG1, can have dire consequences. Affected children face intellectual disabilities, seizures, skeletal issues, facial deformities and many other problems.

“These are really sick kids,” says Hudson Freeze, PhD, professor and director of the Human Genetics Program at SBP. “Almost 45 percent die in the first several years, and many of these children will have severe developmental delays.”

Glycosylation is a critical biological process, in which sugar molecules are added to proteins to make them function properly. A protein that’s improperly glycosylated is like a car without a steering wheel – it simply can’t perform its job.

To make matters worse, correctly diagnosing ALG1 and other CDGs can be a long, stressful and expensive process. Sometimes families must wait months or years to find out what’s causing their child’s condition. And while genomic sequencing is beginning to make a difference, more must be done to diagnose sick kids and help parents make informed decisions.

One potential solution is disease markers – biochemical signatures that identify particular conditions. Armed with this information, clinicians could accelerate the diagnostic process with a simple blood test.

A Unique Sugar Molecule

Researchers may have found a marker for ALG1 and possibly other CDGs. In a paper published in the journal Clinical Chemistry, the team describes a unique sugar molecule that is particularly common in children with ALG1.

The sugar, a type of N-tetrasaccharide, was discovered by Miao He, PhD, who co-directs the Metabolic Disease Laboratory at The Children’s Hospital of Philadelphia. However, he had only a few patients and she was unclear on the molecule’s origin. Working closely with Freeze’s lab, she started hunting for the aberrant sugar in Freeze’s large collection of proven ALG1 patients.

“We looked at a number of kids with ALG1 and kept finding this abnormal sugar,” says Freeze. “It’s a sugar chain that doesn’t normally exist in nature. You can perform a very simple test, that costs just a few hundred dollars, and if you see this abnormality, you could get genetic confirmation and turn it around quickly.”

The beauty of this marker is that it narrows the field for genomic analysis. Rather than looking at a patient’s entire genome – billions of base pairs and more than 20,000 genes – clinicians can focus on the gene that may be causing the disorder, dramatically accelerating the diagnostic process.

Quickly diagnosing a rare disorder can help get kids into treatment, if treatments are available. But it can also help parents navigate the family planning process and inform prenatal testing. In the big picture, disease markers could be a critical adjunct for genomic testing.

“Genome and exome sequencing is the future, but it will require some biochemical confirmation to support the genomic test,” notes Freeze. “This marker can really help us shortcut the long diagnostic odyssey many parents must go through.”

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Communicating complicated ideas to the public

Authorrbruni
Date

March 6, 2015

On March 3, 2015, celebrated journalist and associate director of MIT’s Graduate Program in Science Writing Seth Mnookin joined Sanford-Burnham scientist Dr. Hudson Freeze, director of our Human Genetics Program, for a special lecture hosted at the Sanford Children’s Health Research Center. Continue reading “Communicating complicated ideas to the public”

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Rare Disease Day gathers patients, clinicians, and researchers to discuss sugar therapy

Authorsgammon
Date

March 2, 2015

“Treating Disease with Sugar” was the theme of this year’s Annual Rare Disease Day Symposium at Sanford-Burnham, a subject that drew scientists and patients together in an informal setting to share promising research on how sugar may be used to treat certain rare genetic disorders—and some not-so-rare disorders. While sugar may seem like an odd approach, for patients with mutations in the genes that attach sugar molecules to proteins (glycobiology), and sufferers of multiple sclerosis and cancer, the concept is proving both rational and effective. Continue reading “Rare Disease Day gathers patients, clinicians, and researchers to discuss sugar therapy”

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You’re invited to Rare Disease Day at Sanford-Burnham in La Jolla

Authorsgammon
Date

February 9, 2015

Did you know that in the United States there are more people with a rare disease than people with cancer and AIDS combined?

Rare Disease Day is an internationally recognized day to raise awareness about rare diseases and their impact on patients’ lives. There are more than 6,000 types of rare diseases, and most of them are genetic disorders that affect children. The term “rare disease” is a designation of disorders that affect fewer than 200,000 individuals. For most rare-disease patients, the rarity of their disorder makes the process of an accurate diagnosis a significant challenge—requiring extensive genetic and biochemical tests. Equally, if not more, challenging is the search for effective treatments to improve the health and lives of those that suffer. Continue reading “You’re invited to Rare Disease Day at Sanford-Burnham in La Jolla”

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“Survivin” as a new target to treat brain cancer

Authorsgammon
Date

October 8, 2014

Medulloblastoma (MB) is the most common malignant brain cancer in children. Children diagnosed with the disease undergo intense therapy, including surgery, radiation, and high-dose chemotherapy. Although current treatment regimens have improved 5-year survival rates, almost a third of MB patients still die from their disease, and children who survive suffer long-term side effects that affect their quality of life. Continue reading ““Survivin” as a new target to treat brain cancer”

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A new way to generate insulin-producing cells in type 1 diabetes

Authorsgammon
Date

July 31, 2014

A new study by researchers at Sanford-Burnham Medical Research Institute (Sanford-Burnham) has found that a peptide called caerulein can convert existing cells in the pancreas into those cells destroyed in type 1 diabetesinsulin-producing beta cells. The study, published online July 31 in Cell Death and Disease, suggests a new approach to treating the estimated 3 million people in the U.S., and over 300 million worldwide, living with type 1 diabetes. Continue reading “A new way to generate insulin-producing cells in type 1 diabetes”