February 19, 2016

Pitt Hopkins Foundation Funds UAB Research in Rare Disease

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Grant named in memory of Kindal Kivisto will help advance research, treatment of Pitt Hopkins Syndrome.
BBVA David Sweatt, Ph.D. On January 16, the Pitt Hopkins Research Foundation announced UAB postdoctoral fellow Andrew Kennedy, Ph.D., as the recipient of the Kindal Kivisto Award for Promising Young Researchers, a $75,000 award named in honor of a 29-year-old woman who passed away in October.

Kennedy is a fellow in the lab of David Sweatt, Ph.D., the Evelyn F. McKnight Chair in the Department of Neurobiology and Director of the McKnight Brain Institute. In Sweatt’s lab, Kennedy studies the basic neurobiology underlying Pitt-Hopkins Syndrome (PTHS), an incredibly rare intellectual disorder on the autism spectrum. PTHS is characterized by developmental delays, breathing problems, seizures/epilepsy, and distinctive facial features.

“Kindal did not have Pitt Hopkins, but she was extremely close with one of our families,” said Audrey Davidow Lapidus, president of the PTHS Foundation, based in Winston-Salem, N.C. “Kindal’s family asked that all donations be made to the Pitt Hopkins Research Foundation. The outpouring of love and support for this clearly special young woman was overwhelming. Donations poured in. Her mother wrote to me that she hoped some good could come of this tragedy. We believe there is no team who could make that so more than the Sweatt lab.”

The PTHS Research Foundation’s relationship with UAB began when Lapidus’s son Calvin was diagnosed with PTHS in 2012. The diagnosis sent her searching for answers on the web, where she found information about Sweatt’s research on another rare genetic disorder, Angelman syndrome . “On a whim,” Lapidus said, she sent Sweatt an email asking for help.

That year, Sweatt’s lab received an initial $85,000 gift from the Pitt Hopkins Research Foundation, and Sweatt became the first molecular neurobiologist in the United States to investigate a disease so rare that no more than 200 cases were identified at the time.

In the years since, the Pitt Hopkins Research Foundation has donated more than $300,000 to UAB to fund the ongoing work in Sweatt’s lab. The funding helped Sweatt hire a team of post-doctoral investigators, including Kennedy, Dr. Cristin Gavin and Dr. Elizabeth Rahn, to research PTHS.

“Over the last decade, federal research grant funding rates have been in steady decline, so private philanthropy to support research is more important than it has ever been,” Sweatt said. “This is especially true for rare disorders such as Pitt Hopkins Syndrome, where large national grant review panels may have never even heard of this disorder. The investment in Dr. Kennedy and his research program by the Kivisto family is visionary in this regard.

“The Kindal Kivisto fellowship is the perfect example of private donations catalyzing new discovery in the area of orphan disease research,” he added.

An “orphan disease” is defined as a disease that affects fewer than 200,000 people nationwide. PTHS was first described by two physicians in 1978. At that time, diagnosis was made through medical history and a physical examination. Diagnosis is now made through a simple blood test. As further advancements are made in molecular genetic testing and microarray analysis, the number of identified cases is expected to rise.

“We are incredibly grateful that, in a time of loss, Kindal’s family first thought of helping others,” Kennedy said. “We are honored to receive the Kindal Kivisto Award, and to dedicate our work in her name.”

In 2014, the Sweatt lab received a five-year, $1,837,500 research grant from the National Institute of Mental Health to investigate the molecular and neural basis of PTHS. Sweatt said obtaining the NIMH grant was only possible because of the help and financial support of the PTHS families and the PTHS Foundation, which provided the seed funds necessary to submit a strong proposal based on the pilot data. The grant is the first PTHS research grant to be funded by the US National Institutes of Health.

For more on how to support research in Pitt Hopkins and other rare conditions: campaign@uab.edu; 205.996-0110.
 
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