AADC News

AADC News AADC News is a digital platform providing daily updates on research, science and advice news for AADC patients and caregivers.

Youngest child to get Kebilidi gene therapy now walking, talking
20/11/2024

Youngest child to get Kebilidi gene therapy now walking, talking

More than a year after treatment with the gene therapy Kebilidi, Sriansh Ojha, a toddler with AADC deficiency, is walking and talking.

Celebrating a personal milestone and an FDA approval
19/11/2024

Celebrating a personal milestone and an FDA approval

This year columnist Richard E. Poulin III is celebrating a milestone — his daughter's "Reborn Day" — atop FDA approval of her gene therapy.

Sharing Our AADC Deficiency Diagnostic Journey at SSIEM 2022
15/11/2024

Sharing Our AADC Deficiency Diagnostic Journey at SSIEM 2022

Energy, advocacy, hope, and knowledge are key takeaways from the SSIEM 2022 Annual Symposium, writes columnist Richard E. Poulin III.

AADC deficiency gene therapy, called Kebilidi, now approved in US
14/11/2024

AADC deficiency gene therapy, called Kebilidi, now approved in US

The U.S. Food and Drug Administration has approved PTC Therapeutics' one-time gene therapy, called Kebilidi, for people with AADC deficiency.

Results of genetic tests among racial populations found comparable
13/11/2024

Results of genetic tests among racial populations found comparable

Systemic barriers, not genetic tests, may cause disparities in diagnosing rare diseases in minority racial communities, a study suggests.

Implementing the principles of universal design for learning
12/11/2024

Implementing the principles of universal design for learning

Columnist Richard E. Poulin III explains how the principles of UDL have benefited their daughter, Rylae-Ann, who has AADC deficiency.

New European alliance to advance rare disease diagnosis, care
06/11/2024

New European alliance to advance rare disease diagnosis, care

ERDERA has launched officially with the vision to advance better diagnosis and treatment for the 30 million rare disease patients in Europe.

How we adapted our Halloween celebration for our daughter
05/11/2024

How we adapted our Halloween celebration for our daughter

Their Halloween celebration may not have been traditional, but it was perfect for columnist Richard E. Poulin III's AADC-deficient daughter.

Nerve fiber growth troubled with disease, may affect gene therapy
30/10/2024

Nerve fiber growth troubled with disease, may affect gene therapy

Low levels of dopamine, an AADC deficiency feature, was seen to slow and deform early nerve fiber growth in brain region key for movement.

The journey of helping our AADC-deficient child gain independence
29/10/2024

The journey of helping our AADC-deficient child gain independence

Independence is tricky for a child with a rare disease, but columnist Richard E. Poulin III found an approach that works for his daughter.

Florida State University gets $5M to fund pediatric rare disease research
23/10/2024

Florida State University gets $5M to fund pediatric rare disease research

Florida State University has received $5 million from the State of Florida to support its Institute for Pediatric Rare Diseases.

Lessons from my daughter on letting go of frustration
22/10/2024

Lessons from my daughter on letting go of frustration

Dealing with the daily challenges of AADC deficiency is hard, but columnist Richard E. Poulin III is working on letting go of frustration.

This Oct. 23, supporters will mark AADC Deficiency Awareness Day
16/10/2024

This Oct. 23, supporters will mark AADC Deficiency Awareness Day

AADC Deficiency Awareness Day, to be held this year on Wednesday, Oct. 23, aims to educate others about the extremely rare disease.

Appreciating the power of AADC Deficiency Awareness Day
15/10/2024

Appreciating the power of AADC Deficiency Awareness Day

Columnist Richard E. Poulin III describes how his first AADC Deficiency Awareness Day led him into advocacy work.

Seeking the best of gene therapy delivery methods to treat disease
09/10/2024

Seeking the best of gene therapy delivery methods to treat disease

Gene therapies delivered directly to the brain, like Upstaza, may have advantages in treating diseases like AADC deficiency, per a new study.

At the last minute, a desperate search for a home pays off
08/10/2024

At the last minute, a desperate search for a home pays off

Participating in a clinical trial far away was tricky for columnist Richard E. Poulin III's family, particularly their search for a home.

AI model identifies existing drugs to repurpose for rare diseases
02/10/2024

AI model identifies existing drugs to repurpose for rare diseases

A new AI model identifies drugs that can be repurposed to treat rare diseases, including an inherited neurodevelopmental condition.

Celebrating the hope from AADC deficiency gene therapy
01/10/2024

Celebrating the hope from AADC deficiency gene therapy

As Upstaza use for AADC deficiency becomes more widespread, columnist Richard E. Poulin III honors some of the people who made it possible.

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AWIR% Learning From Each Other
AWIR% Learning From Each Other

Patient advocate Liza Bernstein explains how #AWindowIntoRare will highlight what we can learn from each other as members of the #raredisease community. Join #BioNews in an online panel discussion + Q&A on #RareDiseaseDay at 3 p.m. EST Feb 28. Register: https://bit.ly/Bionews_RegisterNow

Rare Disease Day - A Window Into Rare
Rare Disease Day - A Window Into Rare

Patient advocate Liza Bernstein gives some insight into what will be discussed during "A Window Into Rare," our #RareDiseaseDay online panel discussion on Feb. 28. Register for this live event here: https://bit.ly/Bionews_RegisterNow #AWindowIntoRare #BioNews

A Window Into Rare - Rare Disease Day
A Window Into Rare - Rare Disease Day

"I have an understanding of what it feels like to feel isolated and erased": Patient advocate Liza Bernstein is hosting "A Window Into Rare," our #RareDiseaseDay panel discussion on Feb. 28. Register for this live event here: https://bit.ly/Bionews_RegisterNow #AWindowIntoRare #BioNews

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