Cure SMA Awards $150,000 Grant to Kathryn Swoboda, MD, Massachusetts General Hospital

By Cure SMA | Published On May 29, 2018

Cure SMA Awards $150,000 Grant to Kathryn Swoboda, MD, Massachusetts General Hospital

Cure SMA has awarded a $150,000 research grant to Kathryn Swoboda, MD, at the Massachusetts General Hospital, for her project, "Clinical and pathologic correlations in patients with early infantile-onset SMA.”

SMA is caused by mutations in the SMN1 gene resulting in low levels of SMN protein, which is expressed in every cell in the body. It is clear that low levels of SMN result in the death of motor neurons. However, it is unclear how low levels of SMN impact other tissues and cell types in the body. Recent studies have indicated the SMA type I patients may have additional problems including difficulties with blood sugar levels, digestion, intestinal function, and heart function.

Dr. Swoboda and her team plan to examine tissues from children with SMA type I, generously donated by their families after their death. They will look for abnormalities in different types of cells and structures within these tissues in order to better understand how SMA type I impacts the growth and function of different parts of the body.

The goal of this study is to determine how other organs and tissues affected by low levels of SMN. Learning how other tissues and organs are affected in SMA will help to inform best practices for clinical monitoring and treatment of SMA. 

Meet Dr. Swoboda

Who are you?

I am a neurologist and geneticist who diagnoses and treats patients with motor disorders including SMA.

How did you first become involved with SMA research?

In 1998, I met the parents of a little girl with a rare form of SMA. They convinced me to come to my first SMA conference. After that I was hooked, inspired by the amazing families, doctors and scientists I met there.

What is your current role in SMA research?

Since 1998, I have been dedicated to clinical and laboratory research and clinical trials to help better understand and treat SMA. I am a big advocate of newborn screening for SMA, and I am proud of efforts culminating in the launch of NBS for SMA in two states in January 2018: Utah and Massachusetts.

What do you hope to learn from this research project?

This study aims to perform more detailed studies on tissues obtained from SMA type I patients, generously donated by their families following the death of their affected child. These additional studies are being performed to help us to understand whether other tissues besides motor nerves are affected in SMA.

How will this project work?

Tissues from children with SMA type I, obtained after their death, will be further examined using special techniques to identify problems that might not be immediately obvious. Abnormalities in tissues other than nerves may have implications for changing the way we treat our SMA patients. We will evaluate different types of cells and structures within these tissues in order to better understand how SMA type I impacts the growth and function of different parts of the body.

What is the significance of your study?

SMA is one of the most common degenerative neuromuscular diseases. For a long time, only the motor nerves controlling movement and strength were thought to be affected. However, recent studies have indicated the SMA type I patients may have additional problems including difficulties with blood sugar levels, digestion, intestinal function, and heart function. This study will help determine what the most important problems in SMA patients are and help guide doctors to provide the most ideal clinical monitoring and therapies.

Basic Research Funding

This grant to Dr. Swoboda was generously funded by the Weisman Family Foundations, and is part of $1,325,000 in new basic research funding that we’re currently announcing.

Basic research is the first step in our comprehensive research model. We fund basic research to investigate the biology and cause of SMA, in order to identify the most effective strategies for drug discovery. We also use this funding to develop tools that facilitate SMA research.

Past Announcements

$150,000 to Chad Heatwole, MD

$150,000 to Bakri Elsheikh, MD

$50,000 to Rashmi Kothary, PhD

$150,000 to Robin Parks, PhD 

$150,000 to Brunhilde Wirth, PhD

$150,000 to Umrao Monani, PhD

$150,000 to Charlotte Sumner, MD

$75,000 to Robert Kalb, MD

$150,000 to Allison Ebert, PhD 

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