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Chan Zuckerberg Initiative supports a patient-led movement to cure ALS

The Chan Zuckerberg Initiative today announced $453,000 in funding for I AM ALS, a patient-led organization dedicated to raising awareness of Amyotrophic lateral sclerosis and empowering patients to lead the search for a cure.

25 Sep 2019

Improved mapping of genomes from 1,000 Swedish individuals

In so-called whole genome sequencing, surveys are made of the total genome of an individual. It is still relatively rare in healthcare today, but it occurs at an increasing rate, for example in order to make an accurate diagnosis in the case of a rare disease.

25 Sep 2019

Study uncovers new DNA sequences in Swedish genomes

People - or more specifically just Swedes - are more like chimpanzees than previously known. This is indicated in a genetic mapping of one thousand Swedish individuals, where new DNA sequences that should be included in the reference genome have been identified.

24 Sep 2019

C-Path and NORD launch new platform to accelerate drug development for rare diseases

The Critical Path Institute and the National Organization for Rare Disorders® launched the Rare Disease Cures Accelerator-Data and Analytics Platform in Rockville, MD on Tuesday, Sept. 17.

20 Sep 2019

Children's Tumor Foundation harnesses interest in rare disease research through NF Innovation Week

Neurofibromatosis, a genetic disorder that causes tumors to grow on nerves throughout the body and which affects 1 in 3,000 people - that's over 2.5 million worldwide - has no cure and few workable treatment options.

15 Sep 2019

LMRI scientists discover cause of debilitating eye disease

Scientists at the Lowy Medical Research Institute have discovered one cause of a progressive, debilitating eye disease called macular telangiectasia type 2 (MacTel).

11 Sep 2019

FDA approves first drug to treat patients with rare lung condition

The U.S. Food and Drug Administration today approved Ofev (nintedanib) capsules to slow the rate of decline in pulmonary function in adults with interstitial lung disease associated with systemic sclerosis or scleroderma, called SSc-ILD. It is the first FDA-approved treatment for this rare lung condition.

7 Sep 2019

Apathy can be used as biomarker of Huntington's disease progression

Researchers from the brain cognition and plasticity group of the Bellvitge Biomedical Research Institute and the Neuroscience Institute of the University of Barcelona have led an innovative study that identifies modifications in the connectivity of cerebral white matter associated with the heterogeneous nature of apathy in Huntington's disease, making it possible to use this syndrome as a biomarker of disease progression.

6 Sep 2019

Discover the latest advances in neuromuscular therapeutics at NMD 2019

The 2nd Neuromuscular Drug Development Summit, or NMD, will be held in Boston, MA, from October 23-25,2019.

From Hanson Wade 19 Aug 2019

Price of snakebite drug is sky high, but new competitor unlikely to lower costs

Dr. Steven Curry has treated patients with snakebites since the 1980s — long enough to remember when the treatment represented its own form of misery.

8 Aug 2019

FDA approves first therapy for symptomatic tenosynovial giant cell tumor

Today, the U.S. Food and Drug Administration granted approval to Turalio (pexidartinib) capsules for the treatment of adult patients with symptomatic tenosynovial giant cell tumor (TGCT) associated with severe morbidity or functional limitations and not responsive to improvement with surgery.

3 Aug 2019

An unexpected developmental hierarchy in a rare disease affecting young children

Langerhans cell histiocytosis is a rare disease affecting primarily young children. While LCH may heal by itself without treatment in some patients, others require intensive chemotherapy and suffer from long-term consequences, or may even succumb to the disease.

26 Jul 2019

Genetic mutations link rare skin disorder and non-alcoholic fatty liver disease

Fatty liver disease is often associated with alcoholism, but more than a third of Americans have fatty livers despite moderate or absent alcohol consumption.

25 Jul 2019

Novel therapeutic strategy for treating Lafora Disease shows promise in preclinical study

A team of scientists have designed and tested in mice a novel and promising therapeutic strategy for treating Lafora Disease, a fatal form of childhood epilepsy.

25 Jul 2019

UV-DDB protein scouts DNA damage and oversees repair

In the time it takes you to read this sentence, every cell in your body suffers some form of DNA damage. Without vigilant repair, cancer would run rampant, and now scientists at the University of Pittsburgh have gotten a glimpse of how one protein in particular keeps DNA damage in check.

22 Jul 2019

KHN’s ‘What the Health?’: Biden doubles down on Obamacare

Former Vice President Joe Biden has said if he's elected president he would build on the Affordable Care Act rather than move to a whole new health care system, such as the "Medicare for All" plan supported by some of his primary opponents for the Democratic nomination.

19 Jul 2019

Researchers reveal molecular cause for severe multi-organ disorder

Three unrelated families on three continents (from continental Portugal, the United States and Brazil), all with healthy ancestors, had children with a very rare disease.

18 Jul 2019

Fungal infection study identifies specific genetic vulnerability among Hmong people

Ten years ago, in Marathon County, Wisconsin, 55 people were sickened by an uncommon fungal infection called blastomycosis. Thirty patients were hospitalized. Two people died.

16 Jul 2019

Gene mutation discovery leads to novel treatment for patient with severe lymphatic condition

Faced with a preteen boy in pain and struggling to breathe from a severe, deteriorating rare condition, researchers at Children's Hospital of Philadelphia identified the responsible gene mutation and harnessed that knowledge to develop a novel treatment that dramatically improved the problem.

2 Jul 2019

FDA approves first drug for treatment of neuromyelitis optica spectrum disorder

The U.S. Food and Drug Administration today approved Soliris (eculizumab) injection for intravenous use for the treatment of neuromyelitis optica spectrum disorder in adult patients who are anti-aquaporin-4 antibody positive.

27 Jun 2019