February 25, 2021February 25, 2021 Rare Disease Day ‘Patient Hero’ Raises Awareness Through Fashion Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from ... Read more
February 24, 2021February 24, 2021 About iNTD and How It Can Benefit Patients With AADC Deficiency The International Working Group on Neurotransmitter Related Disorders, known as iNTD, is an organization that seeks to raise awareness and improve the treatment of ... Read more
February 23, 2021February 23, 2021 Rare Disease Day at NIH, Set for March 1, Growing Year by Year Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, ... Read more
February 18, 2021February 18, 2021 Eurordis Survey: Healthcare Experience Worse for Rare Disease Patients People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted ... Read more
February 17, 2021February 17, 2021 Importance of Advocacy for AADC Deficiency If your child has a disease as rare as aromatic l-amino acid decarboxylase (AADC) deficiency, you might want to be involved with health advocacy ... Read more
News, syndicated Pandemic Won’t Stop Rare Disease Day on Feb. 28 February 11, 2021February 11, 2021 Scores of virtual events are afoot around the world to mark Rare Disease Day ...
Health Insights AADC Deficiency and Scoliosis February 10, 2021February 10, 2021 Children with aromatic l-amino acid decarboxylase (AADC) deficiency can, over time, develop scoliosis. This ...
News Italian Expert Panel Issues Diagnostic, Treatment Guidelines February 4, 2021February 4, 2021 An Italian panel of experts recommends using vitamin B6, dopamine agonists, and monoamine oxidase ...
News, syndicated NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns February 3, 2021February 3, 2021 While progress was made last year on newborn screening and other policy issues critical ...
Health Insights What Do Results of Various Tests Mean in AADC Deficiency? February 3, 2021February 3, 2021 Various tests, particularly blood tests, are normally requested if a doctor suspects your child ...
News, syndicated COVID-19 Vaccines Pose Little Risk to Rare Disease Patients, FDA, CDC Say January 29, 2021January 29, 2021 The two COVID-19 vaccines that recently received emergency approval from the U.S. and other ...
Non-invasive MRI May Help Diagnose AADC Deficiency January 28, 2021January 28, 2021 Systematic analysis of non-invasive MRI brain scans of people with aromatic l-amino acid decarboxylase ...
AADC Deficiency and Infections January 27, 2021January 27, 2021 Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease with a range of ...
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 ...
NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum January 7, 2021January 8, 2021
AADC Deficiency and Ethnicity December 18, 2020December 18, 2020 Aromatic l-amino acid decarboxylase (AADC) deficiency is a very rare disease caused by mutations ...
PTC Therapeutics Develops Tools to Assess Health-related Quality-of-life December 10, 2020December 10, 2020
Health Insights 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 ...
News Centogene, PTC Expand Partnership to Offer AADC Deficiency Testing to More People December 3, 2020December 3, 2020 Centogene has expanded its partnership with PTC Therapeutics to make its genetic and biomarker ...
News NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting December 2, 2020December 18, 2020 To empower and equip members of the rare disease community to engage state leaders ...
Health Insights AADC Deficiency and the Heart December 2, 2020December 2, 2020 As a very rare genetic medical condition affecting the nervous system, aromatic l-amino acid ...
News, syndicated Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe November 26, 2020November 25, 2020 The first wave of COVID-19 in Europe severely disrupted access to care and raised stress ...
Health Insights 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 ...
News Trials Data Predict PTC-AADC Gene Therapy to Result in Long-term Benefits November 19, 2020December 2, 2020 PTC Therapeutics’ investigational gene therapy PTC-AADC is expected to result in long-term and durable therapeutic ...
News, syndicated Latest NORD Webinar Offers Insights on Starting Nonprofit, Patient Registry November 18, 2020November 18, 2020 Leaders in the U.S. rare disease community came together recently for a webinar to ...
News Scientists Discover 4 Potential Protein Biomarkers for AADC, Other Disorders November 12, 2020November 12, 2020 Scientists discovered four potential protein biomarkers — apolipoprotein D, apolipoprotein H, oligodendrocyte myelin glycoprotein, ...
