PHEFREE Consortium

The mission of the PHEFREE Consortium is to improve the lives of those with #PKU through clinical research efforts across the US #phefreetogether2020

[PHEFREE Consortium @PHEFREE_Info]

Rare diseases affect an estimated 30 million people in the US. Today @NIH is hosting it's annual Rare Disease Day to raise awareness about these disorders, the people they affect & current research collaborations underway. Join us: https://t.co/Gn0l31Dx4u #NIHRDD #RareDiseaseDay

[Synlogic @synlogic_tx]

Almost 17,000 people in the US struggle with #PKU. Mark your calendars and come with questions tomorrow at 5:00pm ET: the Synlogic #PKU team and our partnering Metabolic Dieticians will discuss the SynPheny-1 Phase 2 study (now enrolling): https://t.co/rAD1hF2Hj4 #GMDI #synbio

[NPKUA @NPKUA_Info]

Teens & Adults with PKU, do you want to make some new connections? Let’s get together and have some fun during this virtual social gathering. A time to celebrate PKU Awareness & ring in the Holidays with others with PKU. Register by 12/3 @ 12:00 pm CST.https://t.co/5NB9ltqkF8

[NPKUA @NPKUA_Info]

Today is #GivingTuesday! On this global day of giving, let’s come together to raise $10,000 for NPKUA education, support, advocacy, and research programs. The PKU community is small but mighty. We can do this! Text PKU to 243725 or visit https://t.co/CiPlfau1OW to give today.

[PHEFREE Consortium @PHEFREE_Info]

@DrJNurse Hi @DrJNurse, yes there is! Here you are: https://t.co/AOZxiONeIC

[PHEFREE Consortium @PHEFREE_Info]

"The correlation between blood phe with tyrosine and tryptophan give a better idea of brain phe concentration. This ratio might be able to predict out come better but is difficult to measure frequently." Francjan van Spronsen #phefreetogether2020 #pku #pkuresearch #phe

[PHEFREE Consortium @PHEFREE_Info]

@IntermountainP So funny! Good old autocorrect 🤣

[PHEFREE Consortium @PHEFREE_Info]

Thank you to all of our wonderful speakers and participants for joining us on Day 1 of our 1st Annual PHEFREE Consortium Scientific Meeting!

Join us again this Thursday for Day 2 with more live tweets from our presentations 🙂 #phefreetogether2020

@NPKUA_Info @rarediseasesnet

[PHEFREE Consortium @PHEFREE_Info]

"Despite early delays with #ptpsdeficiency, patients can achieve independence supporting a positive effect of therapies." Dr. Nicola Longo #phefreetogether2020 @UofUHealth

[PHEFREE Consortium @PHEFREE_Info]

"PTPS deficiency is associated with an increased rate of prematurity and decreased birth weight." Dr. Nicola Longo #phefreetogether2020 #ptpsdeficiency #research @UofUHealth

[PHEFREE Consortium @PHEFREE_Info]

Disorders of biopterin metabolism can cause elevated phenylalanine levels without variants in phenylalanine hydroxylase gene. - Dr. Nicola Longo #phefreetogether2020 #ptpsdeficiency #BH4 #research @UofUHealth

[PHEFREE Consortium @PHEFREE_Info]

Our goal is to develop a safe, effective #genetherapy method that will yield permanent PAH expression in a majority of hepatocytes, permanent decrease in blood phe, and lessen dependency on diet phe restriction. - Dr. Cary Harding #phefreetogether2020 #research #PKU @OHSUNews

[IntermountainPKU @IntermountainP]

So interesting! Has anyone with #PKU had their Teyptoohan levels checked?

[IntermountainPKU @IntermountainP]

This is such an important area for more study! What really happens to the brain in those with #PKU?

[PHEFREE Consortium @PHEFREE_Info]

"What we are talking about with editing is not addition it's gene correction." - Dr. Cary Harding #phefreetogether2020 #geneediting #research #ohsu @OHSUNews

[PHEFREE Consortium @PHEFREE_Info]

Our own Dr. Cary Harding is up next speaking about Gene editing approaches in PKU #phefreetogether2020 #pku #geneediting #ohsu @OHSUNews

[NPKUA @NPKUA_Info]

Hi All! We are sharing live tweets from the @PHEFREE_Info conference today using #phefreetogether2020. Enjoyed presentations from NPKUA funded researchers, Dr. Desiree White and Dr. Shawn.

[PHEFREE Consortium @PHEFREE_Info]

Synlogic currently has a #genethreapy trial in Phase 2 looking at the the effect of an oral synthetic therapy on patients with PKU #phefreetogether2020 #biotics #research #clinicalresearch #microbiome

[PHEFREE Consortium @PHEFREE_Info]

Moderna is doing RNA therapy which involves injecting mRNA in the body, which the body then uses to make proteins. It is a temporary version of gene therapy, but not a front runner for #PKU treatment #phefreetogether #clinicaltrials #research

[PHEFREE Consortium @PHEFREE_Info]

Biomarin has developed a #GeneTherapy trial looking at AAV5 therapy in patients age 15 and older. This study is currently in Phase 1/2. #phefreetogether2020 #clinicaltrials #PKU

[PHEFREE Consortium @PHEFREE_Info]

Another new treatment currently in early phase clinical trials is Homology HMI102 #genetherapy, which is intended for adults with PKU #phefreetogether2020 #PKU #clinicaltrials #research