Illness and Big Data

Richard Barker is director of the Center for the Advancement of Sustainable Medical Innovation, Oxford. He states, 'Illness just became another big-data problem'.

Cameron was Alissa Lundfelt's first child, so initially she didn't realize anything was wrong. He would demand milk constantly, but she thought that wasn't unusual. But when his fingers and toes started to go cold, his eyes rolled back in his head and his skin turned grey, he was taken to the emergency room and diagnosed with Type 1 diabetes. At five months old, he was the youngest person ever to receive this diagnosis in his home state of Alaska.

This meant testing his blood sugar every two to four hours and giving frequent insulin injections, since -- in Type 1 diabetics -- the insulin-producing beta cells in the pancreas are attacked by the body's own immune system, stopping the production of insulin that the body needs.

But even with this regimen, Cameron didn't thrive. When he was two years old, Ian Glass, associate professor of paediatrics and medicine at the University of Washington, and visiting Alaska from Seattle, ordered a test. This revealed that Cameron's diabetes was caused by a mutation in the KCNJ11 gene. Lundfelt went online and read about a group of scientists who had discovered that, in this rare form of diabetes, the beta cells produced plenty of insulin, but it couldn't get out of the cells. All Cameron needed was to take a single pill three times a day to restore his glucose levels to normal.

So diabetes isn't just diabetes: it's a cluster of diseases with different causes and different remedies. This story is just a glimpse of a quiet medical revolution: from defining diseases by the symptoms they cause or the part of the body affected, to the underlying molecular mechanism.

Everything from the situation in the womb to the way someone lives their life can result in a set of molecular patterns that appear as symptoms, which often hides more than they reveal
Richard Barker
The tools we have to power this revolution are being added to daily. We are testing cancers that arise in the skin, the colon and the lungs and finding that a proportion of all of them have mutations of the BRAF gene, suggesting they will all respond to the same medication. And often we can work backwards from different responses to a drug to find that superficially similar diseases have different mechanisms -- as in many autoimmune diseases, for example.

It isn't just genetics that influence the existence of a disease, or the form that it takes. Only one of a pair of identical twins may have schizophrenia, for example. Everything from the situation in the womb to the way someone lives their life can result in a set of molecular patterns that appear as symptoms, which often hides more than they reveal.

This redefinition of disease will also set us a fascinating semantic challenge. Your doctor might tell you that your swollen joints are symptomatic of a TLR and IL-1R signalling pathway imbalance: or instead perhaps she will just say you have arthritis type 13-2. Or perhaps your doctor is not aware of this new precision medicine and simply says you've got rheumatoid arthritis. So when you search for "molecular mechanisms of rheumatoid arthritis", you find over 2,270,000 results.

We'll discover a lot about ourselves and our diseases from big data -- assessing the outcomes of different therapies and finding out in retrospect what works best for who. We will then match that against our gene sequences, which may be stored confidentially at birth. If Cameron Lundfelt had been born a few years later, his parents and doctors would perhaps have known before his symptoms had even appeared that he had monogenic diabetes type KCNJ11. And they would have known immediately what to do.


Click here for the article on the web.



<< Click here to see more recent news articles >>

 

Latest Jobs

Salary

US$140000 - US$160000 per annum

Location

South San Francisco, California

Description

Data Engineer role for a unicorn start up.

Salary

US$150000 - US$170000 per annum

Location

San Francisco, California

Description

This Senior Data Engineer will have a great opportunity to work collaboratively among teams to be a part of building out this redefining software tool.

Salary

US$120000 - US$130000 per annum + Additional Benefits

Location

Cincinnati, Ohio

Description

My client in Ohio are looking for big data engineering experts looking to join a learning-based cutting edge environment to grow technically!

Salary

US$130000 - US$160000 per annum

Location

New York

Description

Looking for a senior data engineer to join a top consulting company focusing on building data solutions for BI, data science, and data analytics teams.

Salary

US$170000 - US$220000 per annum + Base Salary

Location

New York

Description

My client is looking for a seasoned Software Engineer in NYC looking to join their Investment Management business - read more below!

Salary

US$130000 - US$150000 per annum

Location

New York

Description

I'm looking for a data engineer/BI analyst to update the end-to-end analytics platform that delivers insights to internal teams and stakeholders.

Salary

US$176265 - US$198298 per annum

Location

San Francisco, California

Description

A really exciting opportunity for a talented Senior Data Engineer to join a fast paced team working in a global leading business.

Salary

US$130000 - US$150000 per annum

Location

New York

Description

I'm looking for a hybrid data engineer and data analyst to update/build their internal analytics reporting platform.

Salary

US$150000 - US$170000 per annum

Location

New York

Description

I'm looking for Senior Data Engineers to join the leading provider of connecting people to digital and live events across the globe.

Salary

US$120000 - US$130000 per annum + Additional Benefits

Location

Cincinnati, Ohio

Description

My client in Ohio are looking for big data engineering experts looking to join a learning-based cutting edge environment to grow technically!

Salary

€55000 - €70000 per annum

Location

Paris, Île-de-France

Description

Cette Start up spécialisée dans le secteur de la publicité recherche son futur DevOps Engineer

Salary

US$170000 - US$220000 per annum + Base Salary

Location

New York

Description

My client is looking for a seasoned Software Engineer in NYC looking to join their Investment Management business - read more below!

Harnham blog & news

With over 10 years experience working solely in the Data & Analytics sector our consultants are able to offer detailed insights into the industry.

Visit our Blogs & News portal or check out our recent posts below.

Bridging the Gap: The Role of a DevOps Engineer

Siloed teams are swiftly becoming a thing of the past as organizations learn collaboration is key. Businesses are embracing transformation. But some may not know where to turn to help them manage such a massive restructuring of operations. Enter the DevOps Engineer. Yes, Virginia. The unicorn employee does exist. What is a DevOps Engineer? For many businesses, it’s a dream to find a technical person who can also communicate across departments. In the DevOps Engineer role is an IT Generalist who not only has a deep understanding of codes, infrastructure management, and agile familiarity but who also possesses interpersonal skills. It’s this combination that makes this role so imperative to businesses. Working across siloes and bringing teams together for collaboration bridges the gap between the technical and non-technical departments. One of their most important roles is as advocate. Moving from siloed teams to the more collaborative environment of a DevOps culture can be difficult for engineering team members. But as advocate for the benefits, the DevOps Engineer can explain it best to those with whom they’ve worked. Their technical expertise puts them on par with their peers and their interpersonal skills offer a way to communicate across the organization.   Want to Restructure Your Skills toward DevOps? If you’re an IT Generalist with great communication skills. DevOps Engineer could be your next role. But what skills do you need and how might you streamline what you already know into this key role for many businesses? Technical skills depend on team structure, technologies in place, and tools already in use. But the key element of a DevOps Engineer is their strong communication and collaborative skills. Can you morph your technical world into layman’s terms for the executives? Can you translate different needs across teams from QA testers to software developers, generalists and specialists alike? It’s this deep understanding which makes you so valuable to employers. For many organizations, this is the best of both worlds.  Knowing the pros and cons of available tools. Understanding the components of a delivery pipeline. And strong communication skills to bridge once siloed teams into a cohesive and collaborative environment. More technical skills include, but aren’t limited to System administration – such as managing servers, database deployment, and system patching just to name a few.Experience with DevOps tools – understand the lifecycle from building and infrastructure to operating and monitoring a product or service.Configuration management – experience with configuration management tools such as Chef, Puppet, or Ansible to automate admin tasks.Continuous Integration (CI) and Continuous Deployment (CD) – this is a core practice of DevOps. It’s this role’s approach to software development with tools to automate the building, testing, and deploying of software processes. System architecture and provisioning – ability to design and manage computer ecosystems whether in-office or in the cloud. Within this skillset is the importance of Infrastructure as Code (IaC). This is an IT management process that applies best practices from software development to cloud infrastructure management.  Collaborative management skills – while the CI/CD skills are core to the technical side, this is one of the key components for the soft skills required for a DevOps structure. In a Nutshell DevOps (Development + Operations) is a practice that involves new management principles and requires a cultural change. And a DevOps Engineer is the heart of the transformation. Yet they can’t do it alone. A good DevOps Team has more than just one engineer. It involves a mix of generalists and specialists to implement and improve these practices within the software development cycle. A few of these roles include:  DevOps evangelist Automation expert Software developer Quality assurance  If you’re interested in Big Data and Analytics, Harnham may have a role for you. Check out our current vacancies or contact one of our expert consultants to learn more.  For our West Coast Team, contact us at (415) 614 - 4999 or send an email to sanfraninfo@harnham.com.  For our Mid-West and East Coast teams contact us at (212) 796-6070 or send an email to newyorkinfo@harnham.com.  

Puzzle and Problem-Solvers: Software Engineers Drive Business

Software. It’s the drivers to your printer. It’s the word processor on your PC. And it’s the concept behind your productivity tools, your CRM systems, and your social media programs. Software engineers are to software what Data Engineers are to Data.  Software Engineers are the creators, builders, and maintainers of software systems and programs, so business runs smoothly. Now, that the majority of businesses have shifted online, it’s more important than ever to keep things running smoothly. These engineers must take into account not only what businesses might need to run, but also the limitations of the program. It’s a balancing act of software, hardware, limitations, and possibilities. If you took apart watches as a kid to see how they worked, Software Engineering might be for you. Are you a problem solver? Do you love putting the pieces of a puzzle together whether it’s on a board or in a crossword? Software Engineering might be for you. What Kind of Software Engineer are You? While there are a variety of roles to consider, below are some of the more popular paths taken. So, let’s say you want to build computer applications that affect what the end user sees. If you know programming languages such as Python and Java, and understand the mechanics of how to make a program work, then you may fit the classic example of a Software Engineer. If you’re more interested in the focus of robotics or automation, you may want to consider a role in Embedded Systems. You’ll still be designing, developing, and maintaining but your projects will be hardware and software used for a specific task.   Want to keep information secure? You may lean toward Security Engineer. In this role, you’ll ensure there are no security flaws. How? By operating as a ‘white-hat’ ethical hacker to attempt breaking into existing systems to identify threats. Technical Skills are Essential. Soft Skills are Important.  For anyone in the Data professions, technical skills are paramount. This not only gets your ‘foot in the door’, but ensures you know the basics. And for those who’ve been in the game a bit longer, also gives businesses confidence you can meet any challenges which may come up. Technical skills for Software Engineers include knowing programming languages like C++, Python, Java, and others like them. In this role, you’ll need to understand development processes as well as additional technical concepts. Technical skills are a standard requirement. And as important as it is to have a good portfolio and experience, you’ll want to show the business, you have the technical know-how to take on anything which may come your way. Now that cross-functional teams across departments are regular occurrences and C-suite executives are in the know, soft skills are just as important as technical skills. What are Soft Skills? In a nutshell, soft skills are communication skills. In the past, Data professionals may have been siloed away from other teams, and a liaison of sorts might have translated Data information into actionable insights. Now businesses and professionals have found it’s much more efficient to have the Engineer speak directly to their team, their leadership, or stakeholders. So, it’s imperative your soft skills are on par with your technical skills. Scope of Work for a Software Engineer According to the Bureau of Labor Statistics, Software Engineer employment growth is expected to grow 21 percent by 2028. Now that we’re working, studying, and socializing online more than ever, is it any wonder? Add to this the changing needs of organizations as they shift their practices into the cloud, and it’s more important than ever to have professionals who can design and maintain software to meet the needs of an organization. Whichever avenue you choose, whichever business you join or career path you follow, the full scope of work will be broad. You could be in charge of creating, developing, and maintaining a full product or just a single component of an app. Regardless of your scope of work, though, you’ll most likely be working with developers, cross-departmental staff, executives, clients, and stakeholders to mold, shape, and fulfill a design envisioned for their product. If you’re interested in the Data Science, Data Technology, Machine Learning, or Software Engineering, Harnham may have a role for you. Check out our current vacancies or contact one of our expert consultants to learn more.  For our West Coast Team, contact us at (415) 614 - 4999 or send an email to sanfraninfo@harnham.com.  For our Mid-West and East Coast teams contact us at (212) 796-6070 or send an email to newyorkinfo@harnham.com.  

Recently Viewed jobs