Take Part in AADC Deficiency Awareness Day 2021

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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To bring attention to the rare disease aromatic L-amino acid decarboxylase deficiency, the second annual AADC Deficiency Awareness Day will be observed Friday, Oct. 22.

The event is a collaboration among the AADC Family Network, PTC Therapeutics, MassBio (a Massachusetts-based healthcare nonprofit), and Boston Children’s Hospital.

In 2020, AADC Deficiency Awareness Day culminated in a Facebook LIVE presentation in Massachusetts that was co-hosted by MassBio and the Boston Children’s Hospital. The presentation received more than a million impressions from around the world.

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This year’s awareness day again will feature a Facebook LIVE presentation, but it is expanding to include even more locations, specifically in New Jersey and California. BioNJ, a biotechnology-focused nonprofit based in New Jersey, and the California Life Sciences Association have signed on as event sponsors.

This year’s presentation takes place Friday at 11 a.m. ET. The event’s Facebook page can be viewed here.

The presentation will feature opening remarks from Joe Boncore, the CEO of MassBio. Hosts returning from last year’s presentation include Kelly Heger, who founded the AADC Family Network after her daughter, Jillian, became the fourth person to be diagnosed with AADC deficiency, and Bob Coughlin, former CEO of MassBio and a rare disease “dadvocate.”

Matthew Klein, MD, the chief development officer at PTC, also will speak.

AADC deficiency is caused by mutations in the DDC gene, which provides  instructions to produce the AADC enzyme needed to make the neurotransmitters — signaling molecules used by nerve cells to communicate — dopamine and serotonin. The lack of these neurotransmitters impairs the development and function of the brain, ultimately resulting in developmental delays and movement disorders, among other symptoms.

Of note, PTC is developing a gene therapy that is intended to deliver a functional version of the DDC gene to nerve cells in patients’ brains that are affected most by the disease.

The upcoming Facebook LIVE event will feature overviews of the basic information about this extremely rare disease. Experts also will discuss how gene therapies might be used to treat AADC deficiency and other severe genetic diseases, as well as the journey that patients undertake to find an accurate diagnosis.