Latest news articles

Added 2 days ago Drug news

Results of Phase 1/II Northstar (HGB-204) study and ongoing, Phase III Northstar-2 (HGB-207)study of LentiGlobin Gene Therapy for beta-thalassemia. - bluebird bio.

bluebird bio, Inc. announced that new data from the completed Phase 1/II Northstar (HGB-204) study in adolescents and adults with...

Added 9 days ago Drug news

Phase III ARRIVAL data on Kalydeco in cystic fibrosis published in The Lancet Respiratory Medicine.- Vertex Pharma.

Vertex Pharmaceuticals announced data from the ongoing Phase III, open-label ARRIVAL study and published online in The Lancet Respiratory Medicine...

Added 24 days ago Drug news

FDA approves Palynziq to reduce blood phenylalanine concentrations in adult patients with phenylketonuria (PKU).- BioMarin.

BioMarin Pharmaceutical Inc. announced that BioMarin received standard approval from the FDA for Palynziqâ„¢ (pegvaliase-pqpz) Injection to reduce blood phenylalanine...

Search all news articles for Medical genetics
 

 

Learning Zones

An epgonline.org Learning Zone (LZ) is an area of the site dedicated to providing detailed self-directed medical education about a disease, condition or procedure.

Cystic Fibrosis Knowledge Centre

Cystic Fibrosis Knowledge Centre

View disease awareness information, treatment options and European Cystic Fibrosis Society best practice guidelines.

Chronic Lymphocytic Leukaemia (CLL)

Chronic Lymphocytic Leukaemia (CLL)

Refine your knowledge of chronic lymphocytic leukaemia (CLL) with information on pathophysiology, diagnosis, treatment options and more

+ 1 more

Psoriasis

Psoriasis

See information on psoriasis pathophysiology, signs and symptoms, comorbidities, treatment options, and more.

+ 2 more

Load more

 

Guidelines

Cystic fibrosis: diagnosis and management

This guideline covers diagnosing and managing cystic fibrosis. It specifies how to monitor the condition and manage the symptoms to improve quality of life.

Added 5 days ago

British Association of Dermatologists guidelines for biologic therapy for psoriasis 2017

The overall aim of the guideline is to provide evidence-based recommendations on the use of biologic therapies (adalimumab, etanercept, infliximab, ixekizumab, secukinumab and ustekinumab) in adults, children and young people...

Added 8 years ago

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.

Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care.

Added 1 hour ago

Search all guidelines for Medical genetics
 

Journal articles

Tolvaptan in the treatment of autosomal dominant polycystic kidney disease: patient selection and special considerations.

Standard of care therapies for autosomal dominant polycystic kidney disease (ADPKD) may limit morbidity and mortality due to disease-related complications, but they do not delay disease progression.

Added 2 days ago

Is the light at the end of the tunnel nigh? A review of ADPKD focusing on the burden of disease and tolvaptan as a new treatment.

Autosomal dominant polycystic kidney disease (ADPKD) causes pathological cystic changes to the kidney and is characterized by numerous renal and systemic manifestations.

Added 2 days ago

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Background: KCNJ11 mutations cause permanent neonatal diabetes through pancreatic ATP-sensitive potassium channel activation. 90% of patients successfully transfer from insulin to oral sulfonylureas with...

Added 6 days ago

Search all journal articles for Medical genetics
 

Clinical trials

Efficacy, Safety, and Pharmacokinetic Study of Prophylactic Emicizumab Versus No Prophylaxis in Hemophilia A Participants (HAVEN 5)

This randomized, multicenter, open-label, Phase 3 study is designed to investigate the efficacy, safety, and pharmacokinetics of emicizumab in participants with hemophilia A regardless of factor VIII (FVIII) inhibitor status.

Added 3 months ago

A Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Emicizumab Given Every 4 Weeks in Participants With Hemophilia A (HAVEN 4)

This multicenter, open-label, non-randomized study will assess the efficacy, safety, pharmacokinetics, and pharmacodynamics of emicizumab administered at a dose of 6 milligrams per kilogram (mg/kg) every 4 weeks...

Added 3 months ago

Setmelanotide for the treatment of early-onset POMC deficiency obesity

The purpose of the study is to determine the effect of setmelanotide (RM-493) on weight and other factors in patients with pro-opiomelanocortin (POMC) deficiency obesity due to rare bi-allelic loss-of function POMC or PCSK1 genetic mutations.

Added 1 year ago

Search all clinical trials for Medical genetics
 

Blog Posts

Hugh Harvey

Metrics Madness

Posted 2 years ago

You shouldn't judge a book by its cover. That much is true, but it's also common sense not to judge a book by measuring the whiteness of its pages, or the amount of hamsters you can place on it. So why do we measure the fabulous NHS with nonsense metrics?

Kimberley Kendall

An Introduction to Complex Disease Genetics

Posted 4 years ago

What's the difference between a gene 'for' a disease and genes that predispose you to susceptibility? How can we use markers to determine the likelihood a patient will develop a disease? What's nature and what's nurture?

Dr Kimberley Kendall introduces the complexities of Disease Genetics. Affecting the whole of medicine, disease genetics are already revolutionising how we think about medicine. We welcome your views in the comments.

CME

Association of adherence to lifestyle recommendations and risk of colorectal cancer: a prospective Danish cohort study

Accrediting body
Union of European Medical Specialists (via European Accreditation Council for CME)
Credits available
1
Registration required
1
Subscription fee
90

The diagnostic value of hyperammonemia induced by the non-ischemic forearm exercise test

Accrediting body
BMJ Learning - British Medical Learning
Credits available
1
Registration required
1
Subscription fee
90

Carcinoma of unknown primary origin: diagnosis and management: putting NICE guidelines into practice

Accrediting body
Union of European Medical Specialists (via European Accreditation Council for CME)
Credits available
1
Registration required
1
Subscription fee
90
Search all CME for Medical genetics