Jnana Therapeutics Raises $107 Million to Advance Lead PKU Program and Progress Therapeutics Pipeline Discovered by the RAPID Platform
Series C financing led by Bain Capital Life Sciences to support PKU program and pipeline in immune-mediated diseases and cancer; Ron Renaud joins Jnana's Board of Directors Jnana initiates Phase 1 clinical trial of JNT-517, a potential first-in-class or... Biopharmaceuticals, Venture Capital Jnana Therapeutics, chemoproteomics, phenylketonuria (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - November 15, 2022 Category: Pharmaceuticals Source Type: news

Daily Express campaign wins PKU twins a new lease of life
Five-year-old twins Olivia and Ruby Barnett are thrilled by mealtimes now, as a life-changing drug the Daily Express helped them access means they can finally enjoy the same food as their mum and dad. They have phenylketonuria, or PKU, a genetic condition where sufferers cannot eat protein without risking brain damage. (Source: Daily Express - Health)
Source: Daily Express - Health - October 1, 2022 Category: Consumer Health News Source Type: news

Phenylketonuria drug available
The NHS is set to make a drug for the rare, debilitating disorder phenylketonuria (PKU) available to patients of all ages for the first time. (Source: NHS Networks)
Source: NHS Networks - December 20, 2021 Category: UK Health Source Type: news

What Causes Irritability?
Discussion Child abuse or non-accidental trauma is a clinical diagnosis. It is the constellation of history, physical examination, radiographic evaluation, laboratory testing and investigation that determines if child abuse has occurred. Irritability caused by fractures or other trauma can be a presenting symptom of abuse. Fractures can be a presentation but they are also common problems not associated with abuse. Femoral shaft fractures are estimated to account for only 1.6% of all fractures in children, therefore they are potentially more suspicious for child abuse. A review of femur fractures can be found here. A review...
Source: PediatricEducation.org - October 18, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

U.S. FDA Placed a Clinical Hold on BMN 307 Phearless Phase 1/2 Gene Therapy Study in Adults with PKU Based on Interim Pre-clinical Study Findings
BioMarin Also Pausing Further Enrollment of Additional Participants Outside the U.S. in Phearless Phase 1/2 Study BioMarin is Working with FDA and Other Health Authorities and Will Communicate Next Steps When Available SAN RAFAEL, Calif., Sept. 6, 20... Biopharmaceuticals, FDA BioMarin Pharmaceutical, phenylalanine hydroxylase, phenylketonuria (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - September 6, 2021 Category: Pharmaceuticals Source Type: news

Could a Synthetic Probiotic Replace a Strict Diet for Patients with Phenylketonuria?
Synthetic biologists introduced an engineered microbe that may lead to new treatment options for phenylketonuria. (Source: The Scientist)
Source: The Scientist - August 16, 2021 Category: Science Tags: Sponsored Article Source Type: news

Noncoding RNA Improves Symptoms in Mice with Metabolic Disorder
A long noncoding RNA from humans appeared to help the enzyme phenylalanine hydroxylase work better in a mouse model of phenylketonuria, the disorder characterized by reduced activity of that enzyme. (Source: The Scientist)
Source: The Scientist - August 6, 2021 Category: Science Tags: News & Opinion Source Type: news

What Are Some Etiologies for Intellectual Disability?
Discussion “Intellectual disability (ID) is a neurodevelopmental disorder that is characterized by deficits in both intellectual functioning and adaptive function whose onset is in the development period.” Global developmental delay (GDD) is used to describe children from 0-5 years old with significant delays in 2 or more developmental areas. These delays may be transient but up to 2/3 of children with GDD will have ID. Overall 1-3% of the general population has ID which makes it very common. Most children with GDD/ID are identified because of delays in meeting milestones or general academic achievement. ID pat...
Source: PediatricEducation.org - May 3, 2021 Category: Pediatrics Authors: Pediatric Education Tags: Uncategorized Source Type: news

BioMarin, Pioneer in Phenylketonuria (PKU) and Gene Therapy, Receives FDA Fast Track Designation for PKU Investigational Gene Therapy, BMN 307
2nd Investigational Gene Therapy in Clinic, Potential 3rd Therapy in PKU Franchise, 15+ Year Commitment to PKU Community SAN RAFAEL, Calif., Oct. 2, 2020 -- (Healthcare Sales & Marketing Network) -- BioMarin Pharmaceutical Inc. (NASDAQ: BMRN), a pionee... Biopharmaceuticals, FDA BioMarin Pharmaceutical, phenylketonuria, gene therapy (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - October 2, 2020 Category: Pharmaceuticals Source Type: news

Boris Johnson to investigate miracle drug after plea from teenage sufferer of PKU
The Prime Minister has vowed to probe the NHS's 11-year refusal to buy a miracle drug ... after being moved by a teenage sufferer's letter. During the general election campaign, Boris Johnson promised to "do his utmost" to help those with genetic condition Phenylketonuria get life-changing medicine Kuvan. (Source: Daily Express - Health)
Source: Daily Express - Health - July 5, 2020 Category: Consumer Health News Source Type: news

PTC Therapeutics Successfully Completes Acquisition of Censa Pharmaceuticals
SOUTH PLAINFIELD, N.J., June 1, 2020 -- (Healthcare Sales & Marketing Network) -- PTC Therapeutics, Inc. (NASDAQ: PTCT) today announced that it has successfully completed the acquisition of Censa Pharmaceuticals, Inc., a biopharmaceutical company focused ... Biopharmaceuticals, Mergers & Acquisitions PTC Therapeutics, Censa Pharmaceuticals, sepiapterin, phenylketonuria (Source: HSMN NewsFeed)
Source: HSMN NewsFeed - June 1, 2020 Category: Pharmaceuticals Source Type: news

Russian scientists improved the way of treatment of phenylketonuria
(Immanuel Kant Baltic Federal University) A person affected by this disease has to follow a low-protein diet all his life. Otherwise, phenylalanine will accumulate in the body and can lead to severe damage to the central nervous system. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - May 21, 2020 Category: International Medicine & Public Health Source Type: news

Heel Prick, 1957
Robert Guthrie's blood test for the metabolic disorder phenylketonuria launched a worldwide movement to screen every baby for the disease soon after birth. (Source: The Scientist)
Source: The Scientist - July 15, 2019 Category: Science Tags: Foundations Magazine Issue Source Type: news

Semisynthetic sensor proteins enable metabolic assays at the point of care
Monitoring metabolites at the point of care could improve the diagnosis and management of numerous diseases. Yet for most metabolites, such assays are not available. We introduce semisynthetic, light-emitting sensor proteins for use in paper-based metabolic assays. The metabolite is oxidized by nicotinamide adenine dinucleotide phosphate, and the sensor changes color in the presence of the reduced cofactor, enabling metabolite quantification with the use of a digital camera. The approach makes any metabolite that can be oxidized by the cofactor a candidate for quantitative point-of-care assays, as shown for phenylalanine, ...
Source: ScienceNOW - September 13, 2018 Category: Science Authors: Yu, Q., Xue, L., Hiblot, J., Griss, R., Fabritz, S., Roux, C., Binz, P.-A., Haas, D., Okun, J. G., Johnsson, K. Tags: Biochemistry, Medicine, Diseases reports Source Type: news

Matter: Scientists Are Retooling Bacteria to Cure Disease
By manipulating DNA, researchers are trying to create microbes that, once ingested, work to treat a rare genetic condition — a milestone in synthetic biology. (Source: NYT Health)
Source: NYT Health - September 4, 2018 Category: Consumer Health News Authors: CARL ZIMMER Tags: Digestive Tract Microbiology Bacteria Synthetic Biology Genetic Engineering Phenylketonuria (PKU) E Coli (Bacteria) Biotechnology and Bioengineering Massachusetts Institute of Technology Collins, James J Source Type: news