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Tag: Rare Diseases

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Our top 10 discoveries of 2020

AuthorMonica May
Date

December 14, 2020

notebook with Top 10 written at top of page

This year required dedication, patience and perseverance as we all adjusted to a new normal—and we’re proud that our scientists more than rose to the occasion.

Despite the challenges presented by staggered-shift work and remote communications, our researchers continued to produce scientific insights that lay the foundation for achieving cures.

Read on to learn more about our top 10 discoveries of the year—which includes progress in the fight against COVID-19, insights into treating deadly cancers, research that may help children born with a rare condition, and more.

  1. Nature study identifies 21 existing drugs that could treat COVID-19

    Sumit Chanda, PhD, and his team screened one of the world’s largest drug collections to find compounds that can stop the replication of SARS-CoV-2. This heroic effort was documented by the New York Times, the New York Times Magazine, TIME, NPR and additional outlets—and his team continues to work around the clock to advance these potential treatment options for COVID-19 patients.

  2. Fruit flies reveal new insights into space travel’s effect on the heart

    Wife-and-husband team Karen Ocorr, PhD, and Rolf Bodmer, PhD, shared insights that hold implications for NASA’s plan to build a moon colony by 2024 and send astronauts to Mars.

  3. Personalized drug screens could guide treatment for children with brain cancer

    Robert Wechsler-Reya, PhD, and Jessica Rusert, PhD, demonstrated the power of personalized drug screens for medulloblastoma, the most common malignant brain cancer in children.

  4. Preventing pancreatic cancer metastasis by keeping cells “sheltered in place”

    Cosimo Commisso, PhD, identified druggable targets that hold promise as treatments that stop pancreatic cancer’s deadly spread.

  5. Prebiotics help mice fight melanoma by activating anti-tumor immunity

    Ze’ev Ronai, PhD, showed that two prebiotics, mucin and inulin, slowed the growth of melanoma in mice by boosting the immune system’s ability to fight cancer.

  6. New test for rare disease identifies children who may benefit from a simple supplement

    Hudson Freeze, PhD, helped create a test that determines which children with CAD deficiency—a rare metabolic disease—are likely to benefit from receiving a nutritional supplement that has dramatically improved the lives of other children with the condition.

  7. Drug guides stem cells to desired location, improving their ability to heal

    Evan Snyder, MD, PhD, created the first drug that can lure stem cells to damaged tissue and improve treatment efficacy—a major advance for regenerative medicine.

  8. Scientists identify a new drug target for dry age-related macular degeneration (AMD)

    Francesca Marassi, PhD, showed that the blood protein vitronectin is a promising drug target for dry age-related macular degeneration (AMD), a leading cause of vision loss in Americans 60 years of age and older.

  9. Scientists uncover a novel approach to treating Duchenne muscular dystrophy

    Pier Lorenzo Puri, MD, PhD, collaborated with scientists at Fondazione Santa Lucia IRCCS and Università Cattolica del Sacro Cuore in Rome to show that pharmacological (drug) correction of the content of extracellular vesicles released within dystrophic muscles can restore their ability to regenerate muscle and prevent muscle scarring.

  10. New drug candidate reawakens sleeping HIV in the hopes of a functional cure

    Sumit Chanda, PhD, Nicholas Cosford, PhD, and Lars Pache, PhD, created a next-generation drug called Ciapavir (SBI-0953294) that is effective at reactivating dormant human immunodeficiency virus (HIV)—an approach called “shock and kill.”

Institute News

The one-of-a-kind kid

AuthorMonica May
Date

March 16, 2020

Damian Omler and family at his 5th grade graduation

11-year-old Damian Omler is the only known individual with his CDG mutation.

Donnie and Gracie Omler are used to the question, “What’s wrong with your son?” Now, they don’t have to say, “We don’t know.”

While the Omlers knew that something was off when their son Damian started to miss his early milestones—he struggled to sit up, make “goo-goo” sounds and put weight on his legs—a decade passed before they had an official diagnosis.

Doctors suspected Damian had a congenital disorder of glycosylation, or CDG, but couldn’t confirm the mutation type. The family began attending Sanford Burnham Prebys’ Rare Disease Day Symposiums, but unanswered questions made them unsure of how they fit into the CDG community.

Now, the Omler family has answers. Hudson Freeze, PhD, and his team determined that Damian has a never-before-seen type of CDG, now named CDG-GET4. This gene codes for a chaperone protein that guides other proteins to where they need to be in a cell. Freeze’s team found that in Damian’s case, one of these chaperone proteins was almost completely gone.

“After the diagnosis we sat and smiled for a long time,” says Donnie. “Obviously we are not done. But answers give us hope. There might be a treatment or supplement for Damian. We might be able to predict possible complications in the future.”

The Omler’s shared with KPBS how receiving answers changed their life.

Today, Donnie and Gracie focus on giving Damian a fulfilling life. He attends school, where he has friends and participates in sports. He plays with his 9-year-old brother, DJ. He loves rock music—and even attempted to strum a guitar recently. Donnie, a rock lover himself, clutches his heart with joy when describing this development.

Still, the Omlers recognize the challenges that Damian faces. He has seizures, needs help using the restroom and recently got a feeding tube. They attend the Institute’s symposiums to make sure they are up-to-date on information that might help Damian. They also fundraise as much as possible to help researchers do more.

“We are amazed at how much brainpower it takes to find a diagnosis, let alone treat the disease,” says Donnie. “There is no way we could have done this alone. Without these scientists, we would probably still be waiting for answers.”

Institute News

Families, physicians and scientists unite at Sanford Burnham Prebys’ 11th Annual Rare Disease Day Symposium

AuthorMonica May
Date

March 16, 2020

Rare Disease Day group photo

This year’s event centered on CDG, a rare genetic condition that affects around 1,500 people worldwide.

With more than 270 attendees and 30 world-renowned scientists and clinicians, Sanford Burnham Prebys’ 11th Annual Rare Disease Day Symposium was officially the largest in the event’s history. This year’s discussion centered on congenital disorders of glycosylation, or CDG, a rare genetic condition that affects around 1,500 people worldwide.

Malin Burnham, T. Denny Sanford and Debra Turner, honorary trustees of Sanford Burnham Prebys, opened the three-day meeting with moving remarks. A theme emerged: Medical advances are accelerated when key stakeholders work together—including scientists, physicians, people with CDG and their families, patient advocacy groups, granting agencies, industry and philanthropists.

“Our annual symposium aims to create an ecosystem in which key stakeholders can collaborate and communicate,” said Hudson Freeze, PhD, director of the Human Genetics Program at Sanford Burnham Prebys and symposium chair. “Together, we celebrate our successes, focus on challenges and discuss the future of CDG research.”

Presenters at the meeting described the power of the ecosystem. Since the first conference a decade ago where scientists reported on the basic biology of CDGs, today we have promising clinical trials for the most common CDG mutation. In addition, a historic nationwide effort to establish the natural history of CDGs launched this year—which addresses decades of unresolved questions and helps remove barriers to starting clinical trials.

First discovered in the 1990s, scientists now know that CDG is caused by mutations that disrupt the body’s normal process of attaching sugars to proteins. Children with CDG have varying degrees of speech and language difficulty, poor balance, motor control, vision problems, hearing impairments and seizures. 

Because CDG is rare, many patients bounce between doctors and clinics for years before they receive an accurate diagnosis. At the symposium, an innovative session called the “Doctor-is-in” session connects families with medical researchers and clinicians in small groups. For some medical researchers, the session is the first time they have met a person with CDG.

The conference was co-organized by Sanford Burnham Prebys and CDG CARE, a nonprofit organization founded by parents seeking information and support for CDG.

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Sanford Burnham Prebys scientist joins historic effort to help children with rare disease

AuthorMonica May
Date

October 3, 2019

Hudson Freeze, PhD

Hudson Freeze, PhD, professor of Human Genetics at Sanford Burnham Prebys, has joined a historic effort that establishes—for the first time—a nationwide network of 10 regional academic centers, Sanford Burnham Prebys researchers and patient advocacy groups to address decades of unresolved questions surrounding congenital disorders of glycosylation, or CDG, a rare disease that affects children. The consortium is funded by a $5 million, five-year grant from the National Institutes of Health (NIH). 

“We are extremely pleased that the NIH is investing in an initiative that will improve the lives of people affected by CDG,” says Freeze, who leads efforts to develop and validate disease biomarkers that will aid in diagnoses, and measuring treatment benefits during clinical trials. “Although globally the number of people living with CDG is relatively small, the impact on the lives of these individuals and their families can be profound. We look forward to working with the patients, families, physicians, scientists and other stakeholders focused on this important study.”

CDG is caused by genetic mutations that disrupt how the body’s sugar chains attach to proteins. First described in the 1990s, today scientists have discovered more than 140 types of mutations that lead to CDG. Symptoms are wide-ranging, but can include developmental delays, movement problems and impaired organ function. Some children may benefit from a sugar-based therapy; however, developing treatments for those who need alternative treatment options has been hindered by a lack of natural history data—tracking the course of the condition over time—comprehensive patient registry, and reliable methods to establish the CDG type.

Working together, the consortium will overcome these hurdles by: 

  • Defining the natural history of CDG through a patient study, validating patient-reported outcomes and sharing CDG knowledge 
  • Developing and validating new biochemical diagnostic techniques and therapeutic biomarkers to use in clinical trials 
  • Evaluating whether dietary treatments restore glycosylation to improve clinical symptoms and quality of life

Freeze will lead the efforts to develop and validate biomarkers for CDG, working alongside the Children’s Hospital of Philadelphia and the Mayo Clinic. The principal investigator of the CDG Consortium Project is Eva Morava, MD, PhD, professor of Medical Genetics at the Mayo Clinic. The patient advocacy groups involved are CDG CARE and NGLY1.org. 

Sanford Burnham Prebys and CDG Care will host the 2020 Rare Disease Day Symposium and CDG Family Conference from February 28 to March 1 in San Diego, which welcomes researchers, clinicians, children with CDG and their families, and additional CDG community members. Register to attend. 
 

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Autism researcher raising a son with autism shares his story

AuthorMonica May
Date

April 15, 2019

Fumitoshi Irie and his son at a baseball game

Twenty years ago, Fumitoshi Irie, PhD, was conducting his postdoctoral research in Tokyo when he noticed his nearly 2-year-old son, Koji, exhibiting unusual behaviors. 

He didn’t talk often, and when he did, it was garbled. He didn’t make eye contact. He performed repetitive motions. As a neuroscientist, Irie’s instincts sent him to the neurology textbooks at the library. There, he found the symptoms aligned perfectly with autism.  

“Our pediatrician confirmed my suspicions. But at the time, autism was not well known in Japan. A diagnostic system didn’t exist yet, and neither did therapy or other services,” says Irie, now a research assistant professor at Sanford Burnham Prebys in the laboratory of Yu Yamaguchi, MD, PhD “Our doctor told us that the best resources for our son were in the U.S.”

Luckily, moving to America was a natural next step for Irie’s scientific career. He and his wife decided to move to California to join Yamaguchi’s laboratory. He’s worked at Sanford Burnham Prebys ever since. 

“Now, we have great providers and are very happy about the services in San Diego. But I will admit those first years were stressful,” recounts Irie. “Everything changed. We didn’t speak English very well and we didn’t know the right people to contact. It took us a few years to get settled.” 

Autism, also known as autism spectrum disorder (ASD), is a developmental disorder that affects communication and behavior. Symptoms can range from very mild to severe. Approximately 1 in 59 children are diagnosed with autism, according to the Centers for Disease Control and Prevention (CDC), with boys four times more likely to be diagnosed than girls. While the cause of autism is currently unknown, some studies indicate that genetics are involved. However, more research is needed to form a conclusive answer. 

“It’s unlikely that a single gene mutation causes autism,” says Irie. “Multiple factors are likely involved, which explains why the condition appears as a spectrum disorder.” 

A mother’s call sparks new research    

Irie’s autism research originated from an unexpected place: a phone call from a woman named Sarah Ziegler whose son has a rare disease called multiple hereditary exostoses (MHE) that causes numerous bone tumors in children. As the co-founder of the MHE Research Foundation, she noticed that children with MHE often displayed autistic behaviors. 

Irie and Yamaguchi were studying the genes that cause the rare disease, EXT1 and EXT2. These genes are necessary to produce heparan sulfate, a long sugar “tree” that dangles off of the edge of cells and clasps important proteins and molecules. After Sarah’s observation, they began looking into potential connections to autism. 

For Irie, it was a welcome opportunity to study the condition that had changed his life.

First, he created a mouse model that allowed control over the timing and location of EXT1 expression, called a conditional knock out mouse. When he applied a “social reunion test,” in which mice are separated and their behavior post-reunion is studied, he found the reunited mice that lacked EXT1 didn’t interact with each other normally. They co-existed peacefully but didn’t sniff each other and cuddle as they did before. This finding was published in a 2014 paper in the Proceedings of the National Academic of Sciences (PNAS).

Now, Irie is unraveling the molecular dynamics behind this behavior. He’s focused on determining which molecules and proteins interact with heparan sulfate, with a particular focus on the molecular messages sent between neurons. 

Hope for new insights

Irie is quick to note there are caveats to his research: Autism is a spectrum disorder so this may not apply to all children, and heparan sulfate is expressed on many cells and regulates many functions so it is unlikely to be a good target for a potential medicine. 

However, he hopes his research could reveal new insights into autism. While heparan sulfate may not be the right medicinal target, it’s possible there is a protein or still-unknown-factor that interacts with the heparan sulfate “tree” and could be the clue that leads to a drug candidate.  

Today, Irie’s son is almost 22 years old. He lives at home and enjoys participating in a job training program that is organized by the San Diego School District. 

“I love my son just the way he is,” Irie says. “At the same time, I welcome approaches that could ease his suffering because of hypersensitivity or anxiety. Often, everyday experiences are painful to him, such as the sound of a door closing, and it would be wonderful to make that easier for him to bear.”  

Interested in keeping up with our latest discoveries, upcoming events and more? Subscribe to our monthly newsletter, Discoveries.

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Families find hope at our 10th Annual Rare Disease Day Symposium

AuthorMonica May
Date

March 25, 2019

Rare Disease Day 2019-Sanford Burnham Prebys

The unofficial theme of Sanford Burnham Prebys’ 10th annual Rare Disease Day symposium can be summarized in one word: hope. 

This year’s event focused on rare bone disorders and bone cancers, with a special emphasis on a condition called multiple hereditary exostoses (MHE) that causes numerous bone tumors in children. Until now, children with MHE had only one treatment option: repeated surgeries to remove these tumors. 

Now, the first medicine, called palovarotene, that may be able to slow or halt this bone growth is being tested in a clinical trial—potentially saving these children from a lifetime of painful surgeries. Yu Yamaguchi, MD, PhD, symposium chair and professor in Sanford Burnham Prebys’ Human Genetics program, participated in the key research needed in order for the clinical trial to begin.

“For the first time, a diagnosis doesn’t feel like a life sentence,” says Greta Falkner, who attended the symposium with her 8-year-old son, Jackson Falkner. Jackson has MHE and has undergone 13 surgeries to date. “Today we have hope for a cure.”

The launch of a study evaluating palovarotene as an MHE treatment is the result of decades of hard work and collaboration between scientists, clinicians, Clementia Pharmaceuticals (now Ipsen) and the MHE Research Foundation—a patient advocacy and support group. 

The symposium featured an all-star lineup of distinguished speakers in the field of skeletal biology and MHE research, including keynote speaker Henry Kronenberg, MD, of Massachusetts General Hospital and Maurizio Pacifici, PhD, of Children’s Hospital of Philadelphia, whose research formed the scientific rationale for the use of the drug in MHE. The event was sponsored by the MHE Research Foundation and Clementia Pharmaceuticals. 

“We are so grateful that Sanford Burnham Prebys holds this Rare Disease Day symposium to bring together all the important players in rare disease drug discovery: scientists, doctors, families and drug companies. It is literally ‘bench to bedside’ at one event,” says Sarah Ziegler, who co-founded the MHE Research Foundation with Craig and Susan Eaton after Sarah’s son was diagnosed with MHE in 1993 (when little to no information was available on the disease). “Foundations like ours rely on the research of scientists like Drs. Yamaguchi and Pacifici to find new medicines for patients—and the arrival of the first potential treatment for MHE is the perfect example of the power of this research.” 

Multiple parents and children with MHE, some of whom are enrolled in the clinical trial, attended the event. For most of these children, this was the first time they’d met another person with their condition. 
 

Interested in keeping up with SBP’s latest discoveries, upcoming events and more? Subscribe to our monthly newsletter, Discoveries.

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Parents gain answers about their child’s mysterious condition, thanks to SBP scientists

AuthorMonica May
Date

December 11, 2018

Hudson Freeze, PhD, Sanford Burnham Prebys

For the parents of a six-year-old Hispanic boy and a seven-year-old Qatari girl, answers remained elusive. Both children had alarming symptoms, including developmental delays, uncontrollable seizures and “floppy baby syndrome” (hypotonia). But despite doctors’ best efforts, the origin of the disease remained unknown. 

Now, these two children are linked by rare mutations in a gene called FUK—providing their families and doctors a better understanding of the cause of their medical conditions. Using biochemical techniques to analyze the boy’s cells, Sanford Burnham Prebys Medical Research Institute (SBP) scientists determined that a malfunctioning enzyme called fucokinase is to blame—caused by a mutation in the FUK gene. Because cells from the girl weren’t available, computer modeling was used—and indicated this same mutation likely caused the disease. The study published in the American Journal of Human Genetics.

Like a molecular spark plug, the fucokinase enzyme ignites one step in a cellular communication cascade—which culminates in the linkage of a sugar, fucose, to another carbohydrate. This final fucose-carbohydrate product is important for immune system regulation, tissue development, cell adhesion (“stickiness” to the environment) and more. 

Based on these findings, the scientists now know the condition is a congenital disorder of glycosylation (CDG), an umbrella term for disorders caused by abnormal linking of sugars to cellular building blocks, including proteins, fats (lipids) and carbohydrates. Although more than 130 types of CDGs exist, the boy and girl are the only known living individuals who have this mutation. 

“Our hope is that by reporting this information, we will help doctors grant more answers to patients and their loved ones,” says Hudson Freeze, PhD, senior author of the paper and director and professor of the Human Genetics Program at SBP. “Based on our findings, genetic databases around the world will now note this mutation causes disease—a potentially life-changing shortcut in the quest for answers.” 

The researchers analyzed skin and immune cells that were collected from the boy. They observed reductions in the amount of the fucokinase enzyme—as much as 80 percent in skin cells and more than half in immune cells, compared to a control protein. Consistent with these findings, downstream products typically created by fucokinase weren’t incorporated into the final fucose-carbohydrate product—indicating the enzyme was not working.

Because cells from the girl were not available, the scientists used computer modeling to predict the impact of her FUK gene mutation. This approach indicated the mutation occurs at an important site on the enzyme that would likely cause disease.

“We know that dampening down the activity of the FUK gene is linked to metastatic cancer—a deadly event that occurs when tumors gain the ability to travel throughout the body,” says Freeze. “In addition to providing long-awaited answers to these families, these findings could help us understand how certain cancers spread throughout the body, including liver, colorectal and skin cancers (melanoma).” 

Both children were identified through the National Institutes of Health’s Undiagnosed Diseases Network, which is designed to accelerate discovery and innovation in the way patients with previously undiagnosed diseases are diagnosed and treated. 

Additional study authors include: Jill Rosenfeld, Lisa Emrick, MD, Lindsay Burrage, MD, PhD, Brendan Lee, MD, PhD, William Craigen, MD, PhD, Baylor College of Medicine; Mahim Jain, MD, PhD, Johns Hopkins School of Medicine; David Bearden, MD, University of Rochester School of Medicine; and Brett Graham, MD, PhD, Baylor College of Medicine and Indiana University School of Medicine. The study’s DOI is https://doi.org/10.1016/j.ajhg.2018.10.021

Research reported in this story was supported by National Institutes of Health (NIH) grants R01DK099551, U01HG007709, and K08DK106453; Baylor College of Medicine Intellectual and Developmental Disabilities Research Center (U54 HD083092), Diana & Gabriel Wisdom and the Rocket Fund. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. 

Interested in keeping up with SBP’s latest discoveries, upcoming events and more? Subscribe to our monthly newsletter, Discoveries.

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Meeting the “man who saved my son’s life”

AuthorMonica May
Date

November 15, 2018

Saraa and Baraa Ghoniem and Hudzon Freeze-CDG

“I’ve got really cool stuff in my body,” 6-year-old Baraa Ismail proclaimed to Hudson Freeze, PhD, professor in the Human Genetics program at Sanford Burnham Prebys Medical Discovery Institute (SBP).

And, indeed, he does. 

Baraa and his mother, Sara, didn’t know it at the time, but he was born with a rare change in his DNA that interfered with his body’s ability to attach a sugar to proteins—altering the course of his life. 

From birth, Baraa struggled with eating. He dealt with upset stomachs and lethargy, which is unusual for a young child. Sara searched high and low for an answer, but doctor visit after doctor visit, year after year, Baraa remained undiagnosed. 

After four years of uncertainty, Sara connected with Dr. Tawhida Yassin Abdel Ghaffar. She suspected a rare condition called congenital disorders of glycosylation (CDG) and ordered a test. Her instincts were correct—Baraa had one form of CDG. More than 130 types of the condition exist.  

In addition to working with her doctor, Sara was introduced to a new online community of parents and individuals with CDG. It was through a private Facebook group that she connected with another parent whose child has CDG. He told her, “You have to talk to Hudson Freeze at SBP.”

For more than three decades, Freeze and his team have studied CDG with the ultimate goal of developing a treatment. When Freeze heard from Sara, he recommended that she talk to her doctor about giving Baraa mannose, a nutritional supplement. 

Years ago Freeze helped discover that mannose can treat one specific form of CDG—incredibly reversing symptoms as quickly as days sometimes (note: Freeze is not a medical doctor). But it only works if a person has one kind of mutation; treatments are still limited for the 129 other types of CDG that exist. Freeze reasoned that even if he didn’t have Baraa’s genetic sequence in hand, if the boy had that mutation, the mannose would work. 

Incredibly, it did. Within a month, Baraa’s energy was back. And today, Baraa is a Flash-loving, book-devouring little boy who loves to run and sing. 

Baraa was doing so well that Sara even decided to take a vacation for the first time in years. She and Baraa traveled from their home in Egypt to visit her brother in Irvine, California—which happened to be a short drive from SBP. Sara reached out to Freeze, whom she calls “the man who saved my son’s life,” to see if a visit was possible. Freeze was delighted to meet with her and Baraa and give them a tour of his lab. 

“Really, my role was very small in this story,” says Freeze. “But what this illustrates is the importance information has for these families. A simple piece of information changed someone’s life. We’d love to grow so we can eventually become a true hub of information for these families—and help even more people like Sara and Baraa.”  

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Duc Dong honored at Alagille Syndrome Alliance Gala

AuthorSusan Gammon
Date

July 10, 2018

Duc dong

Associate Professor Duc Dong, PhD, was the guest of honor at the Gala of Dreams, the inaugural fundraiser for the Alagille Syndrome Alliance held June 30 at the San Diego Marriott Del Mar. Dong is a trailblazer in the field of Alagille syndrome research—he is working toward a cure for the extremely rare genetic condition that affects approximately one in 30,000 births.

Babies born with Alagille syndrome have too few bile ducts—which are essential for the transport of waste out of the liver. This causes toxins build up in the liver and throughout the body, leading to constant severe itching, and more critically, liver damage and failure. Alagille syndrome patients also have many other life-threatening developmental defects in other parts of their bodies, including the heart, kidneys, vertebrae, and blood vessels. There is no cure for this debilitating disease, and up to 50 percent of patients eventually need a liver transplant, often during childhood.

Dong and his team have been studying JAGGED1, the gene implicated in Alagille syndrome. Taking advantage of an unusual animal model, the zebrafish, he has been able to uncover a novel genetic mechanism for the disease—opening new potential therapeutic avenues. Further, his team has surprisingly discovered that the bile ducts lost can be regenerated after turning the affected gene back “on.”

“The implication is that these developmental defects in Alagille syndrome patients could potentially be reversible and therefore curable,” says Dong. “We will now start screening for drugs that may be used to restore the function of this genetic pathway and hopefully allow for these lost bile ducts to regenerate. We will continue to challenge the science of Alagille syndrome to move closer to a cure.”

The theme of the event, “The Dawn of a Dream,” signified new advances in Alagille syndrome research and the anniversary of the organization’s 25th year in existence. The evening gave advocates, families, doctors and pharma representatives an opportunity to interact in a fun, casual setting and participate in a silent auction to raise money for research. Dong’s lab was presented with the Champion of Alagille Syndrome Award and funds raised by the Alliance through crowd sourcing.

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“A Grand Canyon Aria” benefits SBP research

AuthorHelen Hwang
Date

June 4, 2018

CDG

A father’s love never dies, even when his child has succumbed to a fatal childhood disease. Alex Syed paid tribute to his daughter, Aria, by running a marathon through the majestic Grand Canyon in May 2018. Ten years ago, Aria passed away after suffering from congenital disorders of glycosylation, known as CDG—a disease that affects the way proteins and sugar molecules interact in the body.

In honor of his daughter, Syed raised more than $4,300 from 71 donors to fund important research in the laboratory of Hudson Freeze, PhD, professor and director of the Human Genetics Program at Sanford Burnham Prebys Medical Discovery Institute (SBP). Freeze is one of the world’s leading experts on CDG.

“Funding is always in short supply, so the donations that Alex raised in the name of Aria will bring us closer to finding a cure for other kids suffering from this devastating disease,” says Freeze. “Aria’s cells are in our lab to support experiments that will help build a database for possible therapies,” he adds.

To prepare for the run, which Syed dubbed “A Grand Canyon Aria,” he rose in the middle of the night to begin his 26-mile run from the South Rim via Bright Angel to North Rim, taking him over the mighty Colorado River.

Running through the Grand Canyon to raise money for Dr. Freeze’s research was Syed’s idea. He knows that rare genetic diseases do not receive a lot of funding from large pharma companies. “The almost-angelic work that Dr. Hud Freeze and his team are performing at SBP is truly unique,” says Syed.

To donate, go to sbpdiscovery.org/CDG.

Watch the video of Alex Syed’s run through the Grand Canyon in memory of Ari:

Watch the video from Dr. Hudson Freeze’s lab: