rare diseases

DNAdigest interviews Tim Guilliams from Healx

Tim Guilliams is the CEO of Healx – social enterprise with the focus on drug repurposing for rare diseases. Tim will be speaking at the BioData World Congress in Hinxton on 2-3 November 2017. Photo source: Tim Guilliams’ archive Could you please introduce yourself and tell us about your main activities and roles? (Both at Healx and CRDN) My name is Tim Guilliams, I am the founder and CEO of Healx. I am a scientist by background, I got a MSc degree in bioengineering and chemical engineering and moved to Cambridge for my PhD in biophysics. After getting my PhD, I decided to quit academia and started a social venture named Healx three and a half years ago. Our focus is on repurposing existing drugs for rare and genetic diseases by using artificial intelligence and genomics. I am also the founding director of Cambridge Rare Disease Network which is a charity aiming to bring together parties interested in rare diseases around Cambridge and to bridge gaps between patients, researchers, start ups, clinicians and bring them all around the table. CDRN grew out of Healx and GeneAdviser: we were interested in rare diseases and realised we didn’t have anyone to go to in […]

Bringing Genomics to the Clinic: upcoming event of the Cambridge Rare Disease Network

What is a rare disease? Rare (or orphan) diseases are defined as conditions affecting less than 1 in 2,000 people in the EU, or less than 200,000 people in the US, or less than 50,000 people in Japan. In the UK, 1 in 17 people has or will develop a rare disease at some point in their life. There are approximately 6,000 rare diseases identified today and the number is growing. 75% of all rare diseases affect children and 30% of rare disease patients die before the age of 5. 80% of rare diseases are of genetic origin, whilst 20% are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. Rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease, but also from patient to patient suffering from the same disease. Rare diseases are often chronic and life-threatening and are difficult to diagnose. On average, it takes 6-8 years to diagnose a rare disease. One of the biggest problems is that usually there are no drugs specifically targeting a given rare disease. And since the potential market segment would be quite narrow, pharmaceutical companies are usually […]

Best practices for Genomic analysis

Nowadays, rare genetic variants begin to be discovered more and more often. And still no clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are available. Without accurate standards an acceleration of false-positive reports of causality is at a high probability, therefore obstructing the translation of genomic research findings into clinical diagnostics setting and hinder biological understanding of disease. So what are the best practices for genomic analysis? In the paper Guidelines for investigating causality of sequence variants in human disease D. G. MacArthur et al discuss the primary challenges of assessing sequence variants in human disease, integrating both gene-level and variant-level support for causality and introduce guidelines for summarizing in variant pathogenicity and highlight several areas that require further resource development. For us the most interesting part of the paper is the emphasis on the value of sharing sequence and phenotype data from clinical and research samples to the fullest possible extent. D. G. MacArthur team recognises that many investigators and research funders look at data sharing as a moral and professional imperative, nevertheless, sharing of sequence data among testing laboratories has often been blocked, so that many potentially pathogenic […]

Survey: Genomic Data Access and Sharing

How do you make genomic data available? Genomic research is progressing more rapidly than ever before, as are the workflow habits and preferences of researchers. The question regarding the sharing of genetic data is the one that we at the DNAdigest team are trying very hard to answer. In order to gain an insight in to how researchers access and share genomic data, we have launched a survey that will ultimately further our aim of advancing genomic research by promoting efficient and ethical data sharing. So if you are a researcher who uses human genomic data and you are directly affected by the difficulties of accessing and sharing this data, it will be highly appreciated if you take part in DNAdigest’s survey. You can also have a say here and help us find out what the biggest problems regarding it are. DNAdigest Survey is online now! The Survey has a unique functionality which will allow you to go through it very quickly. It will not take more than 4-5 minutes of your time for filling it in. The outcomes will be published and shared with genomic research community, but your individual responses will be kept confidential. Thank you a lot in advance for your responses! Your participation is […]

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