Updates

News DDC Mutations Associated with Risk of Developing Severe Malaria, Review Study Shows
News ‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases
News At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
News Strengths and Pitfalls of Methods Used to Diagnose AADC Deficiency Focus of Review
News Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
News Study Suggests New Function for AADC, the Enzyme Missing in AADC Deficiency
News Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
News Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
News Gene Therapy Shows Promise for AADC Deficiency But Requires Early Diagnosis, Study Says
News European Initiative Targets Diagnosis, Treatment of Rare Diseases
News Gene Variant Linked to Worse Physical Symptoms, May Have Implications for AADC Deficiency, Study Suggests
News Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
News World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
News Report Characterizes Molecular Consequences of AADC Deficiency-causing Mutations
News NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
News Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
News ‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy
News DDC Gene Variant Linked to Higher Dopamine Production, Excretion in Kidney, Altered AADC Function, Study Reports
News Study Calls for Improved Screening, Diagnosis of Inherited Metabolic Disorders in Pakistan
News Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries
News Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
News #AANAM – AGIL-AADC Gene Therapy Improves Motor, Cognitive, and Speech Skills in AADC Children
News Gene Therapy with Small RNA Molecules May Correct Processing Errors in AADC, Study Says
News International Research Group Works to Increase Knowledge, Awareness of Neurotransmitter Disorders
News Gene Therapy May Improve Brain Tissue Integrity in AADC Deficiency, Study Suggests
News Parkinson’s Medications Lessened AADC Deficiency Symptoms, Case Report Says
News Dopamine-related Metabolites Could Help Diagnose AADC Deficiency Non-invasively, Study Says
News Gene Therapy May One Day Lead to Cure for AADC Deficiency, Review Suggests
News Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
News Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
News Gene Therapy Might Improve Clinical Outcomes for AADC Children, Study Says
News NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
News Analysis of Mutant Proteins Helps Understand Disease Mechanisms in AADC Deficiency
News WODC 2019 Organizers Expect 1,200 to Attend Rare Disease Conference in April
News Vienna to Host RARE2019 Meeting on Rare Diseases
News Agilis Biotherapeutics’ AADC Gene Therapy Ready for Submission to FDA
News AADC Deficiency May Impact Brain Development of Children, Study Says
News Patients, Family and Friends to Take Part in Variety of Rare Disease Day Events Worldwide
News Gene Therapy Improves AADC Deficiency Symptoms in Children, Trial Shows
News ICD-10 Codes, ‘Really Important’ to Rare Disease Patients, Soon Up for Fresh Consideration
News FDA Revising ‘Draft Guidance’ on Developing Treatments for Rare Diseases
News First Mouse Model of AADC Deficiency Developed, Researchers Report
News Researchers Develop Guidelines for Diagnosing, Managing, and Treating AADC Deficiency
News New DDC Gene Mutation Found in Chinese Siblings with AADC Deficiency
News Gene Therapy Corrects Irregular Brain Activity in AADC Deficiency, Mouse Study Shows
News Behavioral Abnormalities May Be Sole Symptom of AADC Deficiency, Case Report Shows
News DDC Gene Mutation Study Advances AADC Deficiency Research
News PTC Therapeutics Advances Gene Therapy for AADC Deficiency

September 13, 2019
Tips for Managing Stress for AADC Deficiency Caregivers

Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare disease that affects children from birth. Patients are often mentally and physically challenged. For parents ... Read more
September 6, 2019
How to Improve Diet and Nutrition for Children with AADC Deficiency

Since eating can be difficult for children with aromatic L-amino acid decarboxylase (AADC) deficiency, it’s important to have a good diet and nutrition plan ... Read more
September 3, 2019September 3, 2019
DDC Mutations Associated with Risk of Developing Severe Malaria, Review Study Shows

Mutations in the dopa decarboxylase (DDC) gene — the gene associated with aromatic L-amino acid decarboxylase (AADC) deficiency — are linked with an increased risk ... Read more
September 2, 2019August 30, 2019
‘Disorder’ Film Festival Offers Look at Siblings Touched by Rare Diseases

Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. ... Read more
August 29, 2019August 28, 2019
At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing

Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially ... Read more

Health Insights

How to Build a Treatment Plan for School/Daycare for a Child with AADC
August 29, 2019
Effectively managing your child’s aromatic l-amino acid decarboxylase (AADC) deficiency can be challenging. Because ...
News

Strengths and Pitfalls of Methods Used to Diagnose AADC Deficiency Focus of Review
August 27, 2019
A broad range of diagnostic tools are available for diagnosing AADC deficiency and similar ...
Health Insights

Taking Care of AADC Caregivers
August 23, 2019
Caring for a child with physical and mental disabilities is a full-time job that ...
News

Nebraska’s Neena Nizar Seeks Cure for Jansen’s, One of World’s Rarest Diseases
August 20, 2019August 19, 2019
Imagine living your whole life with a painful disease so rare that only 25 ...
Health Insights

Lumbar Puncture Can Help Diagnose AADC
August 16, 2019
A lumbar puncture (also called a spinal tap) is a test that can help ...
News

Study Suggests New Function for AADC, the Enzyme Missing in AADC Deficiency
August 13, 2019
Aromatic L-amino acid decarboxylase (AADC), the enzyme deficient in patients with AADC deficiency, also ...

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5 Tips for Making Every Doctor Visit Count When Your Child Has AADC Deficiency
August 9, 2019August 19, 2019
Effectively managing your child’s aromatic l-amino acid decarboxylase (AADC) deficiency can be challenging. Here ...
FAQs in AADC
August 2, 2019August 5, 2019
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare disease with about 100 people ...
Rare Disease Groups Seek Public Support to Renew Newborn Screening Act in Senate
August 1, 2019
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
August 1, 2019
Gene Therapy Shows Promise for AADC Deficiency But Requires Early Diagnosis, Study Says
July 23, 2019July 23, 2019
European Initiative Targets Diagnosis, Treatment of Rare Diseases
July 18, 2019

Gene Variant Linked to Worse Physical Symptoms, May Have Implications for AADC Deficiency, Study Suggests
July 16, 2019
A genetic variant of DDC, the gene encoding L-aromatic amino acid decarboxylase (AADC), contributes ...
Macedonian Gaucher Activist Publicizes Plight of Rare Disease Patients
July 9, 2019
World’s First Alport Stamp Is Macedonian Mom’s Latest Win for Rare Disease Patients
July 5, 2019July 4, 2019
Report Characterizes Molecular Consequences of AADC Deficiency-causing Mutations
July 2, 2019

NORD Honors Industry, Patient Advocates at Rare Impact Awards Gala
June 25, 2019
A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy ...
Eurordis Unveils Integrated-care Initiative for Rare Disease Patients
June 20, 2019
‘Rare Barometer’ Program Helps Eurordis Shape EU Rare Disease Policy
June 18, 2019June 17, 2019

News

DDC Gene Variant Linked to Higher Dopamine Production, Excretion in Kidney, Altered AADC Function, Study Reports
June 11, 2019
A specific variant in the DDC gene is associated with higher dopamine excretion and ...
News

Study Calls for Improved Screening, Diagnosis of Inherited Metabolic Disorders in Pakistan
June 4, 2019
Pakistan has a high rate of inherited metabolic disorders (IMDs) and needs better facilities ...
News

Agency Unveils RaDaR to Help Patient Groups Develop Rare Disease Registries
May 28, 2019May 24, 2019
RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims ...
News

Rare Diseases Constitute a ‘Public Health Issue,’ NCATS Director Warns
May 15, 2019
With 250 rare diseases newly identified every year, scientists can barely keep up — ...
News

#AANAM – AGIL-AADC Gene Therapy Improves Motor, Cognitive, and Speech Skills in AADC Children
May 9, 2019
Treatment with AGIL-AADC gene therapy induces sustained improvements in motor, cognitive, and language measures ...
News

Gene Therapy with Small RNA Molecules May Correct Processing Errors in AADC, Study Says
April 23, 2019
Gene therapy with small RNA molecules may be a promising therapeutic strategy to correct ...
News

International Research Group Works to Increase Knowledge, Awareness of Neurotransmitter Disorders
April 16, 2019
Since its founding in 2013, the International Working Group on Neurotransmitter related Disorders (iNTD) ...
News

Gene Therapy May Improve Brain Tissue Integrity in AADC Deficiency, Study Suggests
April 2, 2019
Gene therapy has demonstrated the ability to improve motor function in movement disorders, including ...
News

Parkinson’s Medications Lessened AADC Deficiency Symptoms, Case Report Says
March 26, 2019
Drugs used in Parkinson’s disease were seen to increase muscle tone and reduce eyelid droopiness ...

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