Mayo Clinic Archives - Sanford Burnham Prebys
Institute News

Graduate student awarded American Heart Association Fellowship

AuthorSusan Gammon
Date

April 14, 2021

The heart is the core of life, and for PhD graduate student Katja Birker, it’s the foundation for the beginning of a career.

Birker recently received a prestigious predoctoral fellowship from the American Heart Association (AHA) to continue her research on hypoplastic left heart syndrome (HLHS), a congenital heart disease that affects between two and four of every 10,000 babies born. As of today, the only cure for HLHS is three open-heart surgeries that begin two weeks after birth.

“I’m very grateful to the AHA for supporting my research,” says Birker. “I’ve embarked on a career to study the genes that contribute to HLHS, and this award will help me continue my work that may eventually lead to targeted prevention of HLHS as well as other congenital heart diseases.”

Birker is collaborating with the Mayo Clinic to identify and test whether genes found in HLHS patients—or “candidate” genes—have similar consequences in the hearts of fruit flies—a model organism for cardiovascular research. The research aims to identify novel gene functions and pathways that are likely to contribute to HLHS.

“Many believe that HLHS is a genetic disease, but the genes that are involved are not well known,” says Birker. “The fruit fly is a very good genetic system to model disease because it has many similar genes to humans and a short life span. I’m able to film videos of fly hearts to understand the impact of the candidate genes on heart function.

“My goal is to find genes that can be used in the future for the diagnosis and treatment of HLHS in babies. The research approach could also be used to screen for genes that might be involved in many other types of heart disease,” adds Birker.

The AHA supports early-career scientists with passion, commitment and focus by providing fellowships that fund their pursuit of cardiovascular research. Birker, a graduate student in the lab of Rolf Bodmer, PhD, professor and director of the Development, Aging and Regeneration Program, received her first AHA fellowship in 2018.

Institute News

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

AuthorMonica May
Date

October 3, 2019

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. 
 

Institute News

Sanford-Burnham wins GlaxoSmithKline drug discovery challenge

Authorpbartosch
Date

December 1, 2014

We’re excited to announce that a joint team of scientists from Sanford-Burnham at Lake Nona and Mayo Clinic has been selected as a winner of GlaxoSmithKline (GSK)’s 2014 Discovery Fast Track Challenge. The Challenge is designed to accelerate the translation of academic research into novel therapies. Researchers from the two organizations will work with partners at GSK to screen the pharmaceutical company’s library of compounds for potential new drugs to treat resistant hypertension, blood pressure that remains high despite treatment with current medications. The Challenge provides resources for small-molecule discovery and offers the opportunity for long-term collaboration. Continue reading “Sanford-Burnham wins GlaxoSmithKline drug discovery challenge”