Up at 5AM: The 5AM Solutions Blog

Newborn Screening in Morocco

Posted on Tue, Dec 23, 2014 @ 03:00 PM

Earlier this month, I had the honor of attending the second Newborn Screening in Morocco Workshop, which tookk place at the School of Medicine and Pharmacy in the city of Fes. It is an amazing city that was founded in the 9th century and features an old city (or medina) that is the largest car-free urban area in the world. One of the world’s first universities was founded in Fes, and it is a center of arts, education and culture. These days, public health officials are establishing screening programs for newborns in the slightly-larger-than California-sized kingdom. 

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Tags: newborn screening

Patients as Peer Reviewers

Posted on Thu, Dec 18, 2014 @ 03:00 PM

Back in August, we published a post about Kim Goodsell, an endurance athlete who took a DIY approach to getting to the bottom of her rapidly and mysteriously declining health. She wasn't getting answers from her own physicians, and so she began to conduct her own research which led to her sequencing her own genome, and discovering that she had two genetic diseases that threatened to end her career as an elite athlete. She published her findings in a  white paper which she used to advocate for treatment for her diseases. 

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Tags: patients as partners

CIRM Wants to Turn Stem Cells Into Cures - Faster!

Posted on Tue, Dec 16, 2014 @ 03:00 PM

The California Institute for Regenerative Medicine (CIRM), has completely overhauled its process for funding projects to develop stem cell-based treatments and therapies. Beginning  January 1, CIRM, which is California's voter-supported, grant- and loan-making agency funding stem cell research, will launch CIRM 2.0 which will shorten the time from application to funding from nearly two years to 120 days. 

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Tags: clinical trials, stem cells

Newborn Screening Saves Lives

Posted on Thu, Dec 11, 2014 @ 03:49 PM

This week, the U.S. Senate unanimously passed the Newborn Screening Saves Lives Reauthorization Act. The bill supports continued funding and expansion for programs that identify, diagnose, and treat debilitating and potentially life-threatening illnesses as early as possible. 

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Tags: newborn screening

Clinical Trials: Finding Goldilocks to Cure Rare Diseases

Posted on Tue, Dec 09, 2014 @ 03:00 PM

One of the challenges in drug development is enrolling participants in clinical trials that meet very specific criteria. The reason for this is sound: make the trial too broad and researchers risk missing meaningful data about a potential therapy's efficacy.

However, there is a tension between mitigating that risk and the need to reach as many people with horribly debilitating -- and often life-threatening -- illnesses as possible with a life-altering miracle.  Often multiple trials have to be conducted that test lots of different scenarios, and each one needs participants whose conditions, like the porridge and the bed in the fairy tale, are "just right."

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Tags: clinical trials, rare diseases, drug development

5AM's Will FitzHugh is Speaking at "Newborn Screening in Morocco"

Posted on Thu, Dec 04, 2014 @ 03:00 PM

I'm very excited about a workshop I am attending next week. I've been invited to speak at Newborn Screening in Morocco in a city called Fes. After launching its first newborn screening pilot program in 2011, Morocco is starting to more regularly test newborns for a variety of conditions. An example  is Phenylketonuria (PKU), which is a rare genetic disorder that can cause serious health problems, but can be controlled with a modified diet.
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Tags: 5AM, newborn screening

Direct-to-Consumer Diagnostics vs. Regulatory Mechanisms

Posted on Tue, Dec 02, 2014 @ 04:15 PM

Today, I’m going to broaden the topic of diagnostics to talk about the most important person in this discussion - you! 

I’ve been focusing on diagnostic tests that your doctor orders for you. But there are some tests that you can buy yourself. For instance, you can go to a drugstore right now and buy a pregnancy test, a diabetes blood sugar test, or even a home drug test. These are often called direct-to-consumer tests. For a test to be direct-to-consumer, it has to be easy to take and the results have to be easy to understand.

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Tags: map of biomedicine, diagnostics, LDT


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