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…
News
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),…
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) —…
Vision degeneration in children with CLN2 disease, also known as late infantile Batten disease, occurs similarly in both eyes and seems to accelerate from ages 4 to 7, according to a recent study. This suggests that eye-targeted CLN2 therapies should be administered before, or as early as possible…
Anesthesia seems generally safe in children and adolescents with Batten disease, according to a study evaluating complications immediately before, during, and after procedures that require anesthesia. These complications, however, were associated with the number of anti-seizure medications taken by the patient, suggesting a more severe disease. The research also highlighted…
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…
The CLN3 protein — the defective form of which underlies juvenile Batten disease — regulates several degradation and recycling processes within cells, mainly associated with a protein called Rab7A, a study found. The findings shed light on CNL3 functions and may help identify new therapeutic targets for…
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…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar. William Whitman…
Recent Posts
- Many juvenile Batten disease patients face mental health issues: Study
- Our Batten disease journey carries on quietly, but with determination
- For our rare disease family, February is about love, advocacy, and unity
- Study maps juvenile Batten disease timeline, aiding care planning
- Rare disease awareness is about a brighter future for all of us
- Advocacy and communication were key to receiving quality care in a crisis
- Miglustat may slow physical decline in juvenile Batten disease: Study
- FDA clears late infantile Batten disease gene therapy for testing
- Giving thanks for every milestone as a CLN2 Batten disease parent
- Brain abnormalities can vary by age, sex in juvenile Batten