AADC News

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

Foundation event shares lastest on A*O treatment for rare diseases
18/12/2024

Foundation event shares lastest on A*O treatment for rare diseases

The latest on antisense oligonucleotide (A*O) treatment development for rare diseases was shared at the N-Lorem Foundation's annual event.

Taking personal time to improve mental health and reduce stress
17/12/2024

Taking personal time to improve mental health and reduce stress

Columnist Richard E. Poulin III and his wife, Judy, are each getting a holiday gift: bonding time for him, personal time for her.

Gene Therapy Is an Exciting Step in the AADC Deficiency World
13/12/2024

Gene Therapy Is an Exciting Step in the AADC Deficiency World

Columnist Richard E. Poulin III reflects on the approval of the first gene therapy for AADC deficiency and hopes for more innovations.

Appreciating the power of AADC Deficiency Awareness Day
11/12/2024

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.

Study highlights ways to diagnose rare genetic diseases in adults
11/12/2024

Study highlights ways to diagnose rare genetic diseases in adults

Comprehensive testing and re-evaluation of available data are needed to diagnose adults with rare genetic diseases, a new study highlights.

Our daughter with AADC deficiency continues to defy the odds
10/12/2024

Our daughter with AADC deficiency continues to defy the odds

Six years after an AADC deficiency diagnosis, columnist Richard E. Poulin III's daughter continues to surprise her parents and defy the odds.

‘Unacceptable’ situations faced by people with rare diseases in Europe
04/12/2024

‘Unacceptable’ situations faced by people with rare diseases in Europe

Situations faced by rare disease patients are overwhelmingly considered 'unacceptable,' according to a survey of more than 11,000 Europeans.

From bath-time tears to foam party cheers, thanks to bubbles
03/12/2024

From bath-time tears to foam party cheers, thanks to bubbles

Bubbles played a key role in helping columnist Richard E. Poulin III's daughter adjust to bath time, develop skills, and celebrate progress.

Researchers create AI algorithm to aid genetic testing decisions
27/11/2024

Researchers create AI algorithm to aid genetic testing decisions

A new algorithm that uses artificial intelligence (AI) aims to help clinicians decide on tests for genetic diseases such as AADC in children.

This year, we’re giving thanks to our daughter’s Grandpa Tim
26/11/2024

This year, we’re giving thanks to our daughter’s Grandpa Tim

Giving thanks for their time together, columnist Richard E. Poulin III pays tribute to his stepdad, Tim, who recently passed away.

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.

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