Latest news articles

Added 20 days ago Drug news

The National Institute for Health and Care Excellence refuses recommendation for Waylivra to treat Familial Chylomicronaemia Syndrome.- Akcea Therapeutics

The National Institute for Health and Care Excellence (NICE) has issued an Evaluation Consultation Document (ECD), refusing Waylivra (volanesorsen) as...

Added 1 month ago Drug news

Roche acquires non US rights to SRP 9001 from Sarepta Therapeutics, a treatment for Duchenne muscular dystrophy.

Roche and Sarepta Therapeutics, Inc. announced the signing of a licensing agreement providing Roche exclusive commercial rights to SRP 9001...

Added 1 month ago Drug news

Lonafarnib filed with FDA for rolling review in progeria.- Eiger Biopharma

Eiger BioPharmaceuticals announced that it has initiated submission of a New Drug Application (NDA) for Lonafarnib for the treatment of...

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.

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

Transplantation

Transplantation

See information on best practice in solid organ transplantation, and expert discussions on related hot topics.

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 1 year 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 10 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 year ago

Search all guidelines for Medical genetics
 

Journal articles

Association between the HLA-B alleles and carbamazepine-induced SJS/TEN: A meta-analysis.

Purpose: From our current understanding, the association between the human leukocyte antigen (HLA), HLA-B*1502, and carbamazepine(CBZ)-induced Stevens-Jonson syndrome and toxic epidermal necrolysis (SJS/TEN) in...

Added 18 days ago

What's new in: "genetics in childhood epilepsy".

In recent years, different mutations in genes that control the excitability of neurons have been described in idiopathic childhood epilepsies. Most commonly, sodium/potassium channelopathies and GABA-receptor mutations are involved.

Added 25 days ago

Advances in gene therapy for cystic fibrosis lung disease.

Cystic fibrosis (CF) is a multiorgan recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Gene therapy efforts have focused on treating the lung...

Added 1 month ago

Search all journal articles for Medical genetics
 

Clinical trials

Study of Nusinersen (BIIB058) in Participants With Spinal Muscular Atrophy

The primary objective of the study is to examine the clinical efficacy of nusinersen administered intrathecally at higher doses to participants with spinal muscular atrophy (SMA).

Added 4 months ago

A Dose-finding Study of Inhaled OligoG vs Placebo in Patients With Cystic Fibrosis (SMR3372)

Randomized, double blind, placebo controlled study. The study has two parts:
Dose-finding part, followed by longer term follow-up (6 months)

Added 3 months ago

A Study to Evaluate Safety and Efficacy of Subcutaneous Administration of Anakinra in Patients With CF (ANAKIN)

Primary Ojective:
- To evaluate efficacy of treatment with anakinra in subjects with CF who are ≥ 12 years of age by means of lung clearance index (LCI).

Added 6 months ago

Search all clinical trials for Medical genetics
 

Blog Posts

Hugh Harvey

Metrics Madness

Posted 4 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 5 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

Congenital heart disease in adults

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

Easily missed: Hereditary haemochromatosis

Accrediting body
Union of European Medical Specialists (via European Accreditation Council for CME)
Credits available
0
Registration required
1
Subscription fee
90

Breaking bad news: a how to do it guide

Accrediting body
Union of European Medical Specialists (via European Accreditation Council for CME)
Credits available
0
Registration required
1
Subscription fee
90
Search all CME for Medical genetics