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Adrenal Bone Cardiovascular Diabetes Endocrine-Disrupting Chemicals Endocrine-Related Cancer Metabolism Neuroendocrinology Obesity Reproduction Steroid and Steroidogenesis Thyroid

BiosciAlliance - Conditions Rare Disease

Obesity Diabetes Acromegaly Diabetes Insipidus Endometriosis Prostate Rare Disease Eye Disease Growth

Congratulations to the awardees of our third round of 2024 grants

BSPED Research and Innovation Award 2024 now open

Research and Innovation Awards 2022 – applications open

Research and Innovation Awards 2022 – applications open

Funding for rare disease drug development research

European Health Data Space Consultation

Learnings from COVID-19 vaccine production could improve treatment for rare diseases

Research and Innovation Awards 2021 – applications open

ESPE Visiting Professorship of Rare Diseases - applications now open!

Welcome to your new Executive Committee members

Welcome to your new Executive Committee members

BSPED Research and Innovation Award 2019

BSPED Research and Innovation Award 2019

New BSPED Special Interest Groups – get involved

New BSPED Special Interest Groups – get involved

British Paediatric Surveillance Unit (BPSU) Sir Peter Tizard Bursary

Liver shows positive response to leptin therapy in patients with partial lipodystrophy

ERN-ENDO – a European Reference Network for Rare Endocrine Conditions

Gigantism sufferers to benefit from new drug subsidy

Upcoming call for ERNs – it’s never too early to get prepared.

Horizon 2020: New therapies for rare diseases

RARE DISEASE DAY

6th joint call for European research projects on rare diseases

PhD position in congentinal hyperinsulinism - University of Manchester, UK

Call for collaborative initiatives on rare disease research

DNA mapping to better understand cancer, rare diseases and infectious diseases (Department of Health, 5 July 2013)

GSK links with French venture firm to target rare diseases (Reuters, 20 June 2013)

Day 3 – ECE 2013 Programme highlights

Rare Disease Impact Report: insights from patients and the medical community

Researchers study a rare disease making people look like a woman but having male genitals under study (AlphaGalileo, 6 February 2013)

MRes/PhD studentships in reproduction, genetics and development research, Birmingham, UK

PhD studentships, University of Birmingham

NIHR Applied Clinical Research on Very Rare Diseases

ECRIN Integrating Activities call

Five rare disease projects selected for funding under the 2012 work plan of the Second EU Health Programme (OrphaNews, 1 September 2012)

European Commission issues FP7 call for proposals in the health field

Scientists discover gene which causes rare disease in babies (EurekAlert, 29 May 2012)

Acromegalic patients with hyperprolactinaemia

Acromegalic patients with hyperprolactinaemia

More drugs being approved for rare diseases in kids (Reuters, 28 February 2012)

International Rare Disease Day

ALD Life Christmas appeal

FP7 call for proposals on rare diseases

2011 Report on the state of rare diseases activities in Europe

New resource for rare diseases and orphan drugs

English Health Ministers agree to commissioning for six more rare conditions (OrphaNews, 22 April 2011)

Final Europlan conference takes stock of the progress of Member State national strategies for rare diseases (OrphaNews Europe, 30 March 2011)

New EURO-Rare Diabetes project will create registry for rare diabetes syndromes

Rare Disease Day 2011

New Rare Disease UK report highlights experiences of patients and families living with rare conditions

Orphan drugs: BMJ feature and open letter to the Prime Minister (NeLM News Service, 17 November 2010)

Orphanet Project Trainee - University of Manchester

Italian deal boosts Glaxo rare diseases business (Reuters, 18 October 2010)

SfE becomes member of Rare Disease UK

FDA and EMA Agree to Accept a Single Orphan Drug Designation Annual Report (EMA press release, 26 February 2010)

Rare Disease Day 2010 - 28 February

Rare Disease Day 2010 - 28 February

Patients, clinicians and industry welcome EU Health Ministers' move to tackle rare diseases

Gaining Access to Rare Disease Research Resources

The EU selects six European networks of expertise for rare diseases (OrphaNews, 20 November)

Championing Rare Disease Research

Awareness & Participation In Rare Disease Registries Within The European Reference Network On Rare E...

Factors affecting loss to follow-up for patients with chronic endocrine conditions during the pediatric period: a cohort study at a reference center for rare diseases

It matters - set up of clinical trials in rare diseases

ERNs and clinical trials; the ERICA and Rare Disease Partnership perspective

Comprehensive analysis of disease spectrum and mortality in Sanjad-Sakati Syndrome: A Rare Disease Perspective

Future of Registers for Rare Disease: the example E-REC

Genomics in rare diseases

Rare Disease Registries – Joining The Dots For Collaborative Research

Lessons from Rare Diseases – Repurposing Drugs and beyond

The ERNS as a tool for the European research on rare diseases

Symposium 8 - A systems pharmacology view of metabolic rare disease variants impairing GPCR signalling

The genomics revolution – precision medicine and centers for rare diseases – a new focus of Paediatr...

Metabolic and rare diseases: new effective treatments

Resource not read: Query You and Your Hormones

Two new mutations in the RET protooncogene: R770Q in coincidence with Y791N in the same family with medullary thyroid carcinoma

Primary hypothyroidism and unilateral thyroid eye disease: A case report

Rare Presentation of Rare Disease: Case report of Prenatal onset Hypophosphatasia

A rare association of hyperthyroidism with Darier disease: case report

A rare case of Moyamoya disease in association with Graves Disease in a Caucasian female

A rare case of Moyamoya disease in association with Graves Disease in a Caucasian female

A rare case of hydatid cyst disease in the adrenal gland

Association of Pituicytoma and Cushings Disease: a Rare Pediatric Case

Hypoparathyroidism and celiac disease a rare autoimmune disease combination

Pseudohyperkalaemia in thrombocytosis  a reminder

Autoimmune hypoglycemia: a rare case of Hiratas disease

Graves disease and isolated langerhans cell histiocytosis, a rare case presentation

Histological categorization of equine ovarian follicles from healthy and diseased mares

15.16. 100,000 genomes pilot on rare-disease diagnosis in health care - preliminary report

Diverse Presentations of Hypophosphatasia in Paediatric Patients: A Review of the Case Literature

A rare differential diagnosis of Pagets disease

Gitelman syndrome, a rare disease: case report

Sex Non-Specific Growth Charts and Potential Clinical Implications in the Care of Transgender Youth and Rare Disease Populations

Paediatric Cushing Disease: One Patients Path to Cure

Rare Disease Registries: Perception of Parents and Young People

Prevalence of celiac disease in autoimmune thyroid diseases, and its associaton with other autoimmune disesases: a single center study in Argentina

A Case of Short Stature Presenting with Multiple Exocytosis

Testicular neuroendocrine tumour with carcinoid heart diseaseon the background of urological cancers: a trio of malignancies

Severe hyponatremia in a case of ovarian hyperstimulationSyndrome

The First Case of Primary Generalized Glucocorticoid Resistance in Serbia in an 8-Year-Old Boy with G679S Mutation of the <em>NR3C1</em> Gene

The impact smoking on the course of type 2 diabetes mellitus. Case study

12.5. Perspectives of rare disease experts on newborn genome sequencing

Managing hypertension can be a night-mare!

Rare case of Graves disease resistant to methimazole: a case report

A rare cause of elevated liver enzymes: Addisons disease

How rare bone disease will advance bone biology (Role of the Musculoskeletal GeCIP)

4.10. Standards of Care for the Health of Transgender and Gender Diverse People, Version 8

McCune Albright syndrome  a clinicians challenge and a multidisciplinary approach: case report

Polyuria-polydipsia- first sign of a rare hematological disease

Leo-Buegers disease: a rare cause of gangrene in diabetics

The Significance of Family History in the Diagnosis of Hereditary Rare Diseases: A Case Report of Misdiagnosed 1q21.1 Microdeletion Syndrome and Literature Review

Epidemiology of Addison's disease in the area of banbury, oxfordshire

Morbid obesity revealing a rare genetic disease

Morbid obesity revealing a rare genetic disease

Morbid obesity revealing a rare genetic disease

Hearing the patient's voice: a focus group listening to the child and parent experiences of living with rare bone diseases

Acromegaly: a rare disease with multiple, complex complications

The effect of CCR2 G190A gene polymorphism on development of diabetic coronary artery disese

Curability rate of cushing’s disease 1 year posttreatment

Why does the endocrine dog not bark in the cytokine night?

Hirata disease: a rare form of hyperinsulinemic hypoglycemia

Endocrine diseases during pregnancy

HISTOPLASMOSIS, A RARE CAUSE OF ADDISON`S DISEASE: CASE REPORT

The increasing understanding of FGF23 in pathogenesis and treatment of diverse endocrine disease

Maffucci syndrome – as an extremely rare form of Ollier disease

Challenge the Experts – Clinical Case Studies of Cushing’s Syndrome – Reloaded! A live and interactive session. An HRA Pharma Rare Diseases sponsored satellite symposium