Category RARE DISEASES

PIER MARIA FORNASARI
2022-08-09

Acute hepatitis of unknown origin in children: an update by the European Reference Network ERN RARE-LIVER

Unexplained cases of acute liver inflammation in children, especially in the United Kingdom (UK) were reported earlier this year. In response, the European Reference Network on Hepatological Diseases (ERN RARE-LIVER) conducted a thorough investigation that did not confirm the alarming observation from the UK in other European countries. However, an infectious cause remains the main suspected

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PIER MARIA FORNASARI
2022-05-14

FDA’s Center for Drug Evaluation and Research (CDER) Launches New Accelerating Rare disease Cures (ARC) Program

FDA’s Center for Drug Evaluation and Research (CDER) has announced the launch of the new Accelerating Rare disease Cures (ARC) Program. The goal of the CDER ARC Program is to speed and increase the development of effective and safe treatment options addressing the unmet needs of patients with rare diseases. Launched in May 2022, CDER’s Accelerating Rare disease

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PIER MARIA FORNASARI
2022-03-23

Kids with rare autoimmune disease antiphospholipid syndrome show these symptoms before blood clots 

Antiphospholipid syndrome is rare in adults and even less common among children.  Each year, around two of every 100,000 American adults receive a new diagnosis of antiphospholipid syndrome, or APS, an autoimmune disease known to cause inflammation and recurring, potentially fatal, blood clots. The number of children with APS is likely much smaller but unknown –

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PIER MARIA FORNASARI
2021-12-15

NIH National Eye Institute researchers identify potential AMD drugs with stem-cell based research tool

Model replicates features of complex disease and provides platform for screening existing drugs Using a stem-cell-derived model, researchers have identified two drug candidates that may slow dry age-related macular degeneration (AMD), a leading cause of blindness for which no treatment exists. The scientists, from the National Eye Institute (NEI), part of the National Institutes of

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PIER MARIA FORNASARI
2021-04-10

New international consortium to promote stem cell-based therapy to treat Huntington’s disease

The Stem Cells for Huntington’s Disease ( SC4HD ) is a new international consortium created to drive advanced therapy drugs (ATMP), through stem cell transplantation, to treat Huntington’s disease. The entity, made up of twenty-eight renowned researchers from ten countries, has been officially featured in the Journal of Huntington’s Disease . The main objectives of the SC4HD consortium are to

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PIER MARIA FORNASARI
2021-04-09

An international working group (IWG) consensus report redefines outcomes in immune TTP

Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a potentially fatal thrombotic microangiopathy caused by autoantibody-mediated severe deficiency of ADAMTS13. Standardized definitions of response, exacerbation, remission, and relapse were initially proposed in 2003 and modified by the International Working Group for TTP in 2017. These definitions, which have been widely used in clinical practice and research, are

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PIER MARIA FORNASARI
2021-01-08

Orchard Therapeutics with research alliance partners Fondazione Telethon and Ospedale San Raffaele Milan Receives EC Approval for Libmeldy™ for the Treatment of Early-Onset Metachromatic Leukodystrophy (MLD)

First gene therapy to receive full EU marketing authorization for eligible MLD patients. One-time treatment with Libmeldy has been shown to preserve motor and cognitive function. Orchard Therapeutics, a global gene therapy leader, and its research alliance partners Fondazione Telethon and Ospedale San Raffaele, today announced that the European Commission (EC) granted full (standard) market authorization

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PIER MARIA FORNASARI
2021-01-08

DNA-editing method shows promise to treat mouse model of progeria

Using a recently developed DNA base-editing technique, researchers correct accelerating aging disorder. Researchers have successfully used a DNA-editing technique to extend the lifespan of mice with the genetic variation associated with progeria,  a rare genetic disease that causes extreme premature aging in children and can significantly shorten their life expectancy. The study was published in the journal Nature, and was

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PIER MARIA FORNASARI
2020-10-28

New inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS) discovered by NIH researchers

Researchers from the National Institutes of Health (NIH) have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene. VEXAS causes symptoms that included blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells. The scientists reported

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