communities

Powering precision medicine for childhood cancers and diseases

Dell technology is advancing the diagnosis of rare childhood diseases, helping both genomic researchers and parents get much-needed answers.


Having a child born with a health problem can turn a parent’s world upside down. When that health problem is too rare to be diagnosed as a specific disorder, it can send a parent down a long, lonely road of truth-seeking that may span years or even a lifetime.

Beorn and Stephanie Rankin and their son, Beorn, talk with Dr. Vinodh Narayanan, their neurologist at TGen.

The Rankin family’s diagnostic odyssey lasted 10 years. It started in 2005 when they noticed their baby, Beorn, couldn’t track objects with his eyes. Then he began regularly having severe seizures. After a decade of biopsies, tests and worry, the Rankins still had no understanding of what was in store for Beorn or for their family.

The Rankins’ quest for answers finally took them to the Translational Genomic Research Institute’s (TGen’s) Center for Rare Childhood Disorders. There, TGen researchers used the Dell Genomic Data Analysis Platform to sequence and analyze Beorn’s genetic data. Dell developed this platform as part of our longtime partnership with TGen to fight rare pediatric cancers. The platform features high-performance computing to analyze sequenced genomes, along with a cloud-based portal that shares aggregated patient data. This physician decision support enables doctors to prescribe treatments tailored to an individual’s genetic makeup.

The platform enabled researchers to diagnose Beorn with a rare DNM1 gene mutation. While there is no cure for DNM1, Beorn’s diagnosis was a breakthrough for the Rankins. Through social media, Beorn’s mother Stephanie Rankin has connected with more than a dozen families around the world whose children have DNM1.

The Rankin family shares the 10-year “diagnostic odyssey” that led them to TGen.

“Finally having a diagnosis means now you have this extended family,” said Stephanie Rankin. “You have parents saying, ‘I tried this therapy, and it did nothing. I tried this therapy, and it helped.’”

Added Rankin, “It just is amazing that what took us a decade, you could now have within the first year of life, which would have changed therapies and medicines and outcomes. You wouldn't have had so many seizures doing damage. You wouldn't have had all of the toxicities from meds that weren't necessary.”

Beorn’s diagnosis also represents a breakthrough for the 1 in 150 children worldwide who have rare childhood disorders. The markers of these disorders are buried deep in a patient’s DNA, which has more than 200 billion data points. Analyzing these points for diagnostic clues was not possible until recently. Dell’s platform has greatly increased the speed and accuracy with which researchers can sequence genomes. And the addition of Dell EMC Isilon technology enables doctors to quickly access the exact data they need for diagnosing and treating diseases.

“[In 2005], we were able to examine all the chromosomes under a microscope to see if there were gross structural changes. This would be akin to looking at the earth from outer space and trying to determine if a leaf had fallen off a tree in a forest in California,” said Dr. Vinodh Narayanan, Beorn’s neurologist at TGen.

“Now, we can look at the spelling of a person’s genomic DNA at the individual letter level. So that’s a million-fold change in resolution. We are able to do this because of the supercomputing power that is at TGen. This is thanks to Dell and Dell's support.”

Advancements in DNA analysis: 2005 vs. 2018

Beorn’s parents began to seek a diagnosis for their son in 2005. Advances made in supercomputing over the last 13 years allow doctors to analyze DNA at the individual letter level — a million-fold change in resolution.

Since Dell first partnered with TGen in 2011, we’ve tripled the Dell Genomic Analysis Platform’s computational capacity and quadrupled its storage speed and capacity. TGen has refined the platform’s use through its daily operations and through a series of Dell-funded pediatric cancer clinical trials conducted with Beat Childhood Cancer.

Faster, more accurate processing enables TGen to see more critically ill patients and better identify potential precision medicine therapies. It has also brought down the costs of genetic testing, making it more accessible to patients. Cost reductions also enable patients to have genomic sequencing done at the point of diagnosis and not as a last result.

Through her family support group, Stephanie Rankin has encouraged other children with DNM1 to get tested at TGen. In fact, TGen is now studying zebra fish, injected with Beorn’s DNA, as models for DNM1-related brain problems. Researchers have discovered the findings from their DNM1 studies can also apply to epilepsy and intellectual disabilities.

“Rare diseases are often much simpler than our more complex diseases, and they have often taught us about what biochemical approaches might help fight much more common diseases,” said Matt Huentelman, professor of neurogenomics at TGen. “So the study of rare disease is not only really important for that family, but it's also really important for the rest of us as well because we're learning how we can exploit different biochemistry to help improve health.”

Over the past six years, through our partnership with TGen we’ve learned a lot about precision medicine’s applications in fighting pediatric cancer. We are now getting ready to scale our physician decision support platform so doctors can use it as they develop precision medicine treatments for other childhood and adult diseases.

Communities Goals

Team Member Volunteerism

Engage 75% of team members in community service by 2020 and provide 5 million cumulative hours of service to the communities in which we live and work, using FY14 as our baseline

74% TO GOAL
FY18 PROGRESS

In FY18, 49% of team members registered at least one volunteer activity through our online tracking system. Overall, team members volunteered 809,000 hours in FY18.

49%

members engaged

4.1

million cumulative hours

RELATED SDGs

Zero Hunger (2), Quality Education (4), Climate Action (13), Partnerships for the Goals (17)

2-YEAR TREND
FY18 - 49% of 75%
FY17 - 44% of 75% Percentage of team members engaged
FY18 - 4.1 of 5 million
FY17 - 3.3 of 5 million Cumulative hours
RELATED SDGs

Zero Hunger (2), Quality Education (4), Climate Action (13), Partnerships for the Goals (17)

Technology in Underserved Communities

Apply our expertise and technology in underserved communities to help 4 million youth directly [1] and support 12 million people indirectly to grow and thrive

80% TO GOAL
FY18 PROGRESS

In FY18, our strategic giving initiatives directly impacted 468,000 youth and indirectly impacted 1.1 million people.

2.6

million cumulative direct impact

11.2

million cumulative indirect impact

RELATED SDGs

No Poverty (1) [2], Quality Education (4), Gender Equality (5), Reduced Inequalities (10) [3], Partnerships for the Goals (17)

[1] Direct impact is a measurement of the youth enrolled in Dell-funded programs. Indirect impact is a measurement of the individuals who are not enrolled in our programs but use the technology we donated to those programs.
[2], [3] Contribution to these SDGs is indirect, but we want to recognize the interconnected nature of the SDGs.

2-YEAR TREND
FY18 - 2.6 of 4 million
FY17 - 2.2 of 4 million Youth helped directly
FY18 - 11.2 of 12 million
FY17 - 10.1 of 12 million People helped indirectly
RELATED SDGs

No Poverty (1) [2], Quality Education (4), Gender Equality (5), Reduced Inequalities (10) [3], Partnerships for the Goals (17)

[1] Direct impact is a measurement of the youth enrolled in Dell-funded programs. Indirect impact is a measurement of the individuals who are not enrolled in our programs but use the technology we donated to those programs.
[2], [3] Contribution to these SDGs is indirect, but we want to recognize the interconnected nature of the SDGs.