January 27, 2021January 27, 2021 AADC Deficiency and Infections Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease with a range of symptoms, often first evident very early in life. Because hypotonia ... Read more
January 22, 2021January 21, 2021 NORD’s Caregiver Respite Program Continues Through Pandemic Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet ... Read more
January 21, 2021January 21, 2021 Genomic Database Screening Can Help Find People with Rare Diseases Screening genomic databases for disease-causing mutations could help identify people with possible aromatic l-amino acid decarboxylase (AADC) deficiency or other rare diseases, a study ... Read more
January 20, 2021January 20, 2021 Art Contest Salutes Creativity of Rare Disease Communities Butterflies, ballerinas, and abstract flowers are featured among the winning artwork of this year’s Rare Artist contest, hosted by the EveryLife Foundation for Rare ... Read more
January 20, 2021January 20, 2021 Neuropsychological Treatment of AADC Deficiency Patients Children with aromatic l-amino acid decarboxylase (AADC) deficiency may experience a number of emotional and cognitive difficulties in addition to the motor symptoms caused ... Read more
News PTC Preparing to Launch Gene Therapy, Pending Approval January 14, 2021January 14, 2021 PTC Therapeutics is preparing to launch PTC-AADC, its experimental gene therapy for aromatic l-amino ...
Health Insights Paramedical Treatments for AADC Deficiency Patients January 13, 2021January 13, 2021 Paramedical treatment is an important aspect in the care of many chronic diseases, including ...
Health Insights Becoming Teens and Adults With AADC Deficiency January 7, 2021January 7, 2021 Children with aromatic l-amino acid decarboxylase (AADC) deficiency can live to be teenagers and ...
News, syndicated NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum January 7, 2021January 8, 2021 The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life ...
Health Insights AADC Deficiency and Ethnicity December 18, 2020December 18, 2020 Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease caused by mutations ...
News, syndicated EURORDIS Award Contest Welcomes Photos of Life With Rare Disease December 17, 2020December 18, 2020 The annual EURORDIS Photo Award contest is inviting people worldwide to visually express what ...
PTC Therapeutics Develops Tools to Assess Health-related Quality-of-life December 10, 2020December 10, 2020 PTC Therapeutics has developed and validated tools to help assess health-related quality of life ...
Your Multidisciplinary Treatment Team: Who Will See Your Child With AADC Deficiency? December 9, 2020December 9, 2020 While aromatic l-amino acid decarboxylase (AADC) deficiency primarily affects the nervous system, it also ...
Centogene, PTC Expand Partnership to Offer AADC Deficiency Testing to More People December 3, 2020December 3, 2020
NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting December 2, 2020December 18, 2020
Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe November 26, 2020November 25, 2020
Respite Care for Children With AADC Deficiency November 25, 2020November 25, 2020 Providing constant care and supervision to a child who has a chronic disease such ...
Trials Data Predict PTC-AADC Gene Therapy to Result in Long-term Benefits November 19, 2020December 2, 2020
Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry November 18, 2020November 18, 2020
Scientists Discover 4 Potential Protein Biomarkers for AADC, Other Disorders November 12, 2020November 12, 2020
Medical Alert Cards for AADC Deficiency November 11, 2020November 11, 2020 Aromatic l-amino acid decarboxylase (AADC) deficiency can cause sudden cardiac issues, oculogyric crises, and problems with ...
NORD Hosting ‘RareLaunch’ Workshops to Help Start Rare Disease Non-profits November 5, 2020November 4, 2020
News Gene Therapy for AADC Deficiency Given Boost by NIH Grant October 29, 2020October 29, 2020 The development of new gene therapy to treat people with aromatic L-amino acid decarboxylase ...
News, syndicated UK Organization ‘Same But Different’ Announces ‘Glimmer of Hope’ Photo Contest Winner October 28, 2020October 28, 2020 A photo of a bespectacled young boy, his red baseball cap slightly askew as ...
Health Insights Feeding Tubes for AADC Deficiency October 28, 2020October 28, 2020 Nursing and swallowing can be difficult for children with aromatic l-amino acid decarboxylase (AADC) deficiency, ...
News, syndicated Telehealth ‘Helpful’ Alternative to In-person Care, Rare Disease Patients Say October 22, 2020October 23, 2020 A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience ...
Health Insights Prevalence of AADC Deficiency October 22, 2020December 2, 2020 Researchers don’t know the exact prevalence (how common a disease is among a population) ...
News AADC Deficiency Awareness Day Event Taking Place Oct. 23 on Facebook Live October 15, 2020October 15, 2020 Massachusetts is holding its first-ever AADC Deficiency Awareness Day on Oct. 23, according to ...
Health Insights My Child Has Been Diagnosed With AADC Deficiency, Now What? October 14, 2020October 14, 2020 As a parent, finding out that your child has a rare genetic disorder like aromatic ...
Health Insights Family Help for AADC Deficiency October 8, 2020October 11, 2020 Taking care of a child with aromatic l-amino acid decarboxylase (AADC) deficiency can be ...
News, syndicated Same But Different Asks Public to Vote on ‘Glimmer of Hope’ Calendar Photos October 8, 2020October 8, 2020 Same But Different, a nonprofit U.K. group that uses art for social change, is ...
