News

Measuring multiple metabolites at once in a single drop of cerebrospinal fluid (CSF) may hasten the diagnosis of many rare genetic disorders of metabolism that cause neurological problems, including aromatic l-amino acid decarboxylase (AADC) deficiency, research suggests. The new approach, which identified a new biomarker of AADC…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD), said it will still take place at the…

Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…

Although an ultra-rare condition, aromatic L-amino acid decarboxylase (AADC) deficiency appears to be more common among people being tested for neurological problems of unknown origin than thought, with an estimate of about 1 in every 900 at-risk patients, a study reports. Its researchers also suggest that people…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…

In recognition of Rare Disease Day Feb. 29, Bionews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…

Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Two previously unknown gene mutations that cause aromatic L-amino acid decarboxylase (AADC) deficiency have been identified in two siblings whose cases were described in a new report. The mutations were found in the DDC gene in the African American sisters. Titled “Case report: discovery of 2…