Christopher Cowan and his lab at the Medical University of South Carolina recently conducted a study in mice in order to understand how defective MEF2C genes impact brain development. A…
NORD has received thousands of phone calls and emails each week from concerned rare disease patients. They are asked for advice and how to decipher the myriad of contradictory information…
AVROBIO AVROBIO is based out of Cambridge, Massachusetts. They specialize in single-dose gene therapy as a cure for rare genetic conditions such as cystinosis, Gaucher disease, and Fabry disease. Most…
Mobile County Mobile County has unfortunately become one of the hotspots for COVID-19 in Alabama. But individuals and organizations are working tirelessly to help their community. Individuals Catherine Drake has…
A recent Phase 4 study has shown that Opsumit can improve function of the right heart ventricle for patients with pulmonary arterial hypertension (PAH). The right ventricle pumps blood to…
Atypical hemolytic uremic syndrome (aHUS) is a rare condition which can be sparked by pregnancy, although it can also occur without it. Essentially, if you are genetically predisposed to the condition,…
The Change in Hospitals Due to COVID-19 Between 10 and 15 percent of all hospital staff is forced to isolate due to the virus at any one time. This means…
Contact Tracing Contract Tracers are an essential component to stopping the spread of COVID-19. Essentially, it entails finding those exposed to the virus and quarantining them until they are no…
A recent report has documented a positive case study of a potential treatment option for one of the complications Marfan syndrome can cause. This report was published in the Journal of Oral Implantology. …
Ocala Fire Rescue Department (OFD) has just launched a "community paramedicine program." The primary aim of this new program is to help keep patients who frequently call 911 out of…
Idiopathic Pulmonary Fibrosis Progression Veracyte has just signed a deal with Yale University which will help them develop the very first test which can predict disease progression for idiopathic pulmonary…
Disposable Scopes Disposable scopes are exactly as they sound. Medical scopes utilized for the bladder, lungs, colon, etc. can be made reusable or disposable. Disposable scopes allow faster and more…
Ana Pina from the Centro de Estudos de Doencas Cronicas at NOVA Medical School in Portugal, and her colleagues recently published an innovative study regarding the diagnosis of familial hypercholesterolemia (FH).…
Edwin Chapman, who works at the University of Wisconsin-Madison, has been studying neurons for most of his career. He and his team recently made a discovery regarding SYT1-associated neurodevelopmental disorder.…
Maxwell and Riley Freed are twins who just celebrated their third birthday. Maxwell has a rare disease called SLC6A1. Sadly, this was a notable birthday because at 3, Maxwell will…
The European Commission has just granted their approval to Pharming for an extended indication of RUCONEST (conestat alfa) for Hereditary Angioedema (HAE). This extension allows the therapy to be utilized for…
A New Study A new study, conducted by CLS Behring, has found that a new method of administration for Hizentra as a treatment for primary immunodeficiency (PI), could improve quality…
Minorities and Healthcare As a whole, racial minorities, particularly black and Latino people, have more health comorbidities. This is due to a wide array of factors including structural elements, socioeconomic…
A recent study examined three different follicular lymphoma (FL) patients to try to better understand how the disease presents differently for different individuals. Ultimately, this study has reiterated the importance…
APDS Activated PI3K delta syndrome (APDS) is a form of primary immunodeficiency (PI). There are fewer than 100 reported cases of the condition. APDS has two types (1 and 2),…
Sean Boyle is a PhD candidate at Emory University. He just signed up to participate in a trial for a coronavirus vaccine when he doesn't know the risks. That's because…
A new study published in Blood has found different genetic variants of myelodysplastic syndromes (MDS). The most common of these is called SF3B1, which occurs in around 1 in every 5 patients. It…
Of course, parents are not used to taking on the role of educator. Many are still working full time jobs at home. That, in addition to the normal household chores,…
A new resource guide has been developed for X-linked hypophosphatemia (XLH) by Prime, a medical education firm. This project has been supported by Ultragenyx Pharmaceutical Inc. The guide provides resources…
Armené and Michael Kapamajian live in LA. Their son Sasoun was diagnosed with severe combined immunodeficiency (SCID). This means that his immune system is compromised and he is extremely vulnerable…
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