News

January 22, 2021January 21, 2021

NORD’s Caregiver Respite Program Continues Through Pandemic

News, syndicated

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization ... Read more

January 20, 2021January 20, 2021

Liver-targeting Gene Therapy Reduces Extra Phenylalanine in PKU Mice

News

Delivering the human PAL gene — phenylalanine amino lyase — into the liver cells of phenylketonuria (PKU) mouse models via gene therapy can safely reduce excess phenylalanine in the ... Read more

January 13, 2021January 13, 2021

Homology Medicines’ Gene Therapy, Gene Editing Programs Advance

News

Homology Medicines has announced the next steps for its gene therapy and gene editing clinical programs for the treatment of phenylketonuria (PKU). “We ended 2020 with positive data from the ... Read more

January 11, 2021January 11, 2021

NORD Seeks Speakers for 2021 Virtual ‘Living Rare, Living Stronger’ Forum

News, syndicated

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD ... Read more

January 6, 2021January 6, 2021

Inaccurate Protein Content Found on Most Food Labels in UK

News

Food labels on supermarket websites in the U.K. have high rates of misleading, incomplete, and inaccurate information relating to protein content, which could affect the metabolic control of people ... Read more

December 16, 2020December 16, 2020

New CRISPR-Cas9-created Pig Model Better Mimics PKU Symptoms in Humans

News

Using the CRISPR-Cas9 gene-editing tool, researchers created a pig model of phenylketonuria (PKU) that better mimics the disorder’s signs and symptoms in humans, compared with classic mouse models, a ... Read more

December 9, 2020December 9, 2020

New Paper-based Sensor Could Help Monitor PKU, Study Finds

News

A novel sensor that combines plant enzymes and nanomaterials can be used to measure levels of the amino acid phenylalanine in human blood, a new study shows. The sensor may ... Read more

December 2, 2020December 1, 2020

NORD Push for Rare Disease Advisory Councils Focus of Dec. 16 Public Meeting

News, syndicated

To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders ... Read more

November 26, 2020November 25, 2020

Survey Finds COVID-19 Disrupted Care, Well-Being of Rare Disease Patients in Europe

News, syndicated

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to ... Read more

November 25, 2020November 25, 2020

Pfizer Invests in Homology Medicines, Supporting Gene Therapies for PKU

News

Homology Medicines, which specializes in gene therapies for rare diseases and is developing two potential such therapies — HMI-102 and HMI-103 — for people with phenylketonuria (PKU), has received a $60 million equity investment from ... Read more