SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available

News, Events, Networks, News for Patients

We are proud to share the results from a crucial survey on diagnostic and monitoring activities for patients with metabolic disorders, a collaborative effort between Società Italiana per lo Studio delle Malattie Metaboliche Ereditarie e lo Screening Neonatale (SIMMESN) and MetabERN Italy, led by Prof Carlo Dionisi Vici (Bambino Gesù Children Hospital, Rome, Italy). This initiative […]

SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available Read More »

Rare Disease Day 2026 – More than you can imagine!

News, Events, News for Patients, Press Releases

The last day of February is a special occasion dedicated to raising awareness about rare diseases. Rare Disease Day aims to shine a light on these conditions and to advocate for improved access to treatment and care for the millions of individuals and families affected by these diseases. In the European Union, a rare disease is

Rare Disease Day 2026 – More than you can imagine! Read More »

Webinar – Smith-Lemli-Opitz syndrome from a holistic family perspective

News for Patients, Education for Patients, Education for Professionals

A MetabERN webinar on Smith-Lemli-Opitz syndrome featuring expert presentations and patient perspectives from the European SLOS Natural History project.

Webinar – Smith-Lemli-Opitz syndrome from a holistic family perspective Read More »

European Conference on Rare Disease (ECRD 2026)

Events, Networks, News for Patients

ECRD 2026, the largest patient-led rare disease conference in Europe, takes place in Prague on 3-4 June. Registration and poster submissions are open.

European Conference on Rare Disease (ECRD 2026) Read More »

MetabERN Fabry Disease Day

News, Education for Patients, Events, News for Patients

MetabERN and UZA host a Fabry Disease Day in Brussels on 28 March 2026. Focus sessions, expert talks and workshops. Free registration.

MetabERN Fabry Disease Day Read More »

Declaration on the European Innovation and Care Ecosystem for Rare and Complex Diseases

News, Events, Networks, News for Patients, Press Releases

The HLM Rare 2025 launched a Declaration setting strategic priorities for rare disease research and innovation in Europe.

Declaration on the European Innovation and Care Ecosystem for Rare and Complex Diseases Read More »

XVI International Glycogen Storage Disease (GSD) Conference

Events, Education for Patients, News for Patients

The XVI International Glycogen Storage Disease Conference was held in Getafe on 3-4 October 2025, organised by AEEG. Watch the recorded sessions.

XVI International Glycogen Storage Disease (GSD) Conference Read More »

upcoming national workshops on Cross-border Healthcare

Events, Networks, News for Patients

EU-funded national workshops on cross-border healthcare and patients’ rights. Events in Prague (26 Sept) and Groningen (30 Oct) 2025.

upcoming national workshops on Cross-border Healthcare Read More »

Upcoming Webinar: Think Ammonia! Test and Diagnosis of Hyperammonaemia in time

Events, Education, Education for Patients, Education for Professionals, News for Patients

A MetabERN webinar on hyperammonaemia diagnosis, testing and management. With expert presentations and insights from Metabolic Support UK.

Upcoming Webinar: Think Ammonia! Test and Diagnosis of Hyperammonaemia in time Read More »

Recognising Fabry Disease in Cardiology

Education, Education for Patients, Education for Professionals, News, News for Patients

Free video lectures by UZA and MetabERN on recognising Fabry disease in cardiology, covering genetic aspects and clinical red flags for cardiologists.

Recognising Fabry Disease in Cardiology Read More »

Rare Neurotransmitter Diseases (RND) Researchers Forum

News, Events, Networks, News for Patients

A forum on rare neurotransmitter diseases in Zagreb on 16 May 2025, bringing together researchers, clinicians, patients and caregivers.

Rare Neurotransmitter Diseases (RND) Researchers Forum Read More »

European Parliament Consultation on Rare Diseases

News, Networks, News for Patients, Other

A public consultation by the European Parliament’s SANT Committee to gather insights on rare disease challenges, open until 31 March 2025.

European Parliament Consultation on Rare Diseases Read More »

SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available

Webinar: Young Patient Advocacy – A Call to Action for Transition!

Essential biomarkers in IEM: basic course

SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available

SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available

Rare Disease Day 2026 – More than you can imagine!

Webinar – Smith-Lemli-Opitz syndrome from a holistic family perspective

European Conference on Rare Disease (ECRD 2026)

MetabERN Fabry Disease Day

Declaration on the European Innovation and Care Ecosystem for Rare and Complex Diseases

XVI International Glycogen Storage Disease (GSD) Conference

upcoming national workshops on Cross-border Healthcare

Upcoming Webinar: Think Ammonia! Test and Diagnosis of Hyperammonaemia in time

Recognising Fabry Disease in Cardiology

Rare Neurotransmitter Diseases (RND) Researchers Forum

European Parliament Consultation on Rare Diseases

SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available

Webinar: Young Patient Advocacy – A Call to Action for Transition!

Essential biomarkers in IEM: basic course

SIMMESN & MetabERN Collaborative Success: Survey Results on Diagnostic and Monitoring Activities for Patients with Metabolic Disorders are Available

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