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July 10, 2020July 10, 2020

National Survey Seeks to Assess Full Social, Economic Burdens of Rare Diseases in US

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The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease ... Read more

July 8, 2020July 8, 2020

Healthy Diet Key for PKU Women to Deliver Healthy Babies, Study Suggests

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Women with phenylketonuria (PKU) can deliver healthy babies if they maintain an appropriate diet that keeps blood phenylalanine levels in normal range prior to and throughout pregnancy, a study from ... Read more

July 1, 2020July 1, 2020

Amino Acid Supplements Improve Cognitive Function, Quality of Life in Adults With PKU, Study Finds

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Supplementation with large neutral amino acids (LNAAs) improves cognitive function and overall well-being in adults with phenylketonuria (PKU) who poorly adhered to their dietary regimen, a study suggests. The ... Read more

June 24, 2020June 24, 2020

Activities, Events Ready for June 28 – International PKU Day

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Activities and events have been planned to raise public knowledge and understanding of phenylketonuria (PKU) on June 28 — International Phenylketonuria Day. Due to the ongoing COVID-19 pandemic, the ... Read more

June 22, 2020June 22, 2020

Alexion Charitable Foundation Giving $1.1M to Assist Rare Disease Community During Pandemic

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The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will ... Read more

June 17, 2020June 17, 2020

Gene Editing Approach for PKU Children Shows Precise Correction in Mice

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The gene editing approach being investigated by Homology Medicines to potentially treat children with phenylketonuria (PKU) is delivered to liver cells with high efficacy and without causing unwanted changes ... Read more

June 9, 2020June 10, 2020

Coalition Will Address Racial Disparities in Rare Disease Communities

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The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis ... Read more

May 29, 2020May 29, 2020

COVID-19 Delaying Rare Disease and Gene Therapy Trials, Pharma Execs Say

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While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene ... Read more

May 27, 2020May 27, 2020

Plant-based Capsule Shell May Lead to Oral Enzyme Therapies for PKU, Study Suggests

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Using extracts from plants in oral capsule formulations could lead to enzyme therapies that resist the acidic environment of the stomach and effectively treat phenylketonuria (PKU), an early study suggests. ... Read more

May 25, 2020May 25, 2020

Eurordis Urges Expansion of Newborn Screening Initiatives Across Europe

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European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session ... Read more

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