News

Myasthenia gravis can be difficult to diagnose, and in this video, Beth Stein, M.D., Chief of Neurology at St. Joseph’s Regional Medical Center, discusses why the disease course makes it that way.

This is the first single-dose antibacterial approved for treating AOE.

Jersey Mike’s Subs kicked off the “Month of Giving” campaign by inviting 22q11 deletion syndrome patient Claudia and revealed they'd fly her to California so she could attend a teen awards show.

Ionis Pharmaceuticals reported positive top-line data from a completed Phase 1/2 study of RG6042 (Ionis HTTRx) in people with early stage Huntington’s disease .

Following their review, the authors concluded that the SDS reports are useful in informing acute randomized placebo-controlled studies.

A new classification of diabetes may provide information about underlying disease mechanisms and ultimately guide the choice of therapy.

In a panel at Rare Disease Day at the NIH, a panel discussed how younger rare disease patients can support research through social media and modern technology.

Rigel Pharmaceuticals announced that data from its FIT Phase 3 extension study of fostamatinib in patients with chronic ITP will be presented at the Biennial Summit of the Thrombosis and Hemostasis Societies of North America.

The findings were true even for early-onset dementia.

In a panel at Rare Disease Day at the NIH, Marshall Summar, M.D. served as the moderator for a panel about collaborating for rare disease research.

Despite prior evidence showing that those with CVD live longer if they are overweight or obese at the time of diagnosis leading to confusion, new data has shed light on why this paradox exists.

One week after Vertex Pharmaceuticals Incorporated initiated its first Phase 3 study of VX-659, tezacaftor and ivacaftor regimen for people with cystic fibrosis, the company has announced it is initiating a second.

Spruce Biosciences has announced the launch of the CAH Natural History Study, an initiative to advance knowledge and awareness of congenital adrenal hyperplasia.

Researchers ease patients fear around hormonal contraceptive side effects.

Physician self-medication is the dangerous product of unrealistic expectations and fear of retribution. What’s being done to lift the stigma of doctors becoming patients?

Hospitals utilizing BedsidePEWS did not see a reduction in mortality, but the rate of late admissions to the ICU was decreased.

Biopharmaceutical company Incyte has partnered with Academy Award winning filmmaker Cynthia Wade to develop a series of short documentary films to raise awareness for MPNs.

The promising relapsing MS therapy had previously shown benefits in relpase rates and T2 lesion limitation.

The ZTlido patch utilizes a 36-mg dose of lidocaine, compared to the 700-mg dose used by other available patches.

A $2.8 million Fast Track Small Business Innovation Research (SBIR) grant has been awarded to PhaseBio Pharmaceuticals from the National Institutes of Health (NIH) to support the clinical development of PB1046 in treating patients with pulmonary arterial hypertension (PAH).

These quotes come from respected, well-known personalities working within the rare disease community, and stress the importance of continued funding, research and collaboration.

The Manton Center for Orphan Disease Research at Boston Children’s Hospital and Alexion Pharmaceuticals aim to increase the accuracy and precision of diagnosing pediatric rare disease patients.

FDNA has launched the global Genomics Collaborative, a group of collaborative research efforts focused on using computational techniques and phenotypic data to analyze human genetics.

Varicose veins were rarely thought to have severe health effects, but should now be monitored closely, new evidence suggests.

In observance of World Rare Disease Day, the U.S. FDA has announced a collaboration with NORD, in which a pilot project would assist medical reviewers in better understanding rare disease patient experiences.

Time constraints, confusion about the definition, and a litany of other factors all played a role in the collection of vital drug AE data.

In this video, Stephen Spaulding, M.A., Director Of Care Services for the ALS Association Greater Philadelphia Chapter, discusses how certain science and drugs can apply to more than one patient population.

Data from a Phase 2 trial of galinpepimut-S (GPS) in acute myeloid leukemia (AML) have been published in the current issue of the peer-reviewed medical journal Blood Advances.

Those with chronic depression have a 37% increased risk of missing appointments, a 23% heightened risk of having a detectable viral load and a mortality risk that's twice as high.

The results confirm that inattention and processing speed index in primary school children are linked to peer problems in adolescents, and support that their importance is not restricted to children with a specific diagnosis.