Use of model organism and disease databases to support matchmaking for human disease gene discovery

For parents of children with rare or chronic illnesses, it can be scary watching their child struggle with life-altering conditions, never fully knowing what their future may hold. The medical battles and unanswered questions can be extremely isolating. Her 7-year-old daughter, Lily, was born with a rare genetic condition called Ehlers-Danlos syndrome. She was diagnosed just over a year ago. But when Lily was just 5 years old, she asked her parents to help her find a friend like her. Allison began envisioning an organization that could help connect those with unique health conditions in a private way. With a background in social work and marketing, she knew she would need additional professional support to make her vision a reality. There are currently over 4, members looking to connect with those facing similar medical issues.

Rare congenital disorder discovered through genetic matchmaking

As the utility of genetic and genomic testing in healthcare grows, there is need for a high-quality genomic knowledge base to improve the clinical interpretation of genomic variants. Active patient engagement can enhance communication between clinicians, patients, and researchers, contributing to knowledge building. It also encourages data sharing by patients and increases the data available for clinicians to incorporate into individualized patient care, clinical laboratories to utilize in test interpretation, and investigators to use for research.

Data can be matched with queries from clinicians, laboratory personnel, and researchers to better interpret the results of genetic testing and build a foundation to support genomic medicine. Participation is online, allowing patients to contribute regardless of location.

Her daughter’s rare illness inspired this mother to create an organization that helps privately connect people living with unique health.

New technologies are already enabling the deployment of health services to remote areas and helping patients navigate health systems, allowing them more visibility on care cost and quality, among other things. Reducing the risk of investing in these markets is one of the objectives of TechEmerge Health, an IFC program that connects tech companies worldwide with leading health-care providers in emerging markets. IFC is calling on innovators from around the world to apply for the program, which will match their tech innovations with health facilities in East Africa.

Applications are being accepted for the next six weeks, through February TechEmerge is being implemented in partnership with the governments of Finland and Israel. IFC will provide seed funding and technical support for tech companies and technology adopters during the market-entry and tech transfer process. This will reduce the market-entry risk for innovators and the technology-adoption risk for health-care providers.

As the East Africa program advances, IFC will evaluate making investments in the tech companies and working with them to bring their solutions to scale in other emerging markets. Recent economic growth in Ethiopia and Kenya make these countries especially attractive for the introduction of innovations in the health space, Thakker said.

Phossy jaw

We bring together the brightest minds from the worlds of business, research, education and healthcare delivery to answer some of the biggest health challenges facing Europe. Europe faces a turning point in health. An ageing population, the rising burden of chronic disease, and growing multi-morbidity are all placing pressure on health systems across Europe.

Our vast community, including approximately world-class partner organisations, works across borders to connect the three worlds of business, research and education. Our ambition is to enable people in Europe to live longer, healthier lives. Our work goes beyond conventional approaches to disease management and disease prevention.

Once enough humans have their genomes sequenced, we can end inherited disease — if we all play along.

Children with congenital disorders of glycosylation may suffer from epilepsy, developmental delay, autistic features, decreased stature and chronic insomnia. However, children are often misdiagnosed, since these disorders are rare or unknown. For the parents of these children, the uncertainty about what is wrong with their child can be almost unbearable. We had a really hard time figuring out what was wrong with these children. We used a genetic test and then made comparisons with other reported gene mutations in the GeneMatcher database.

We found five more children worldwide with similar symptoms, all with the same genetic disorder. Congenital disorders of glycosylation are a growing group of rare genetic disorders caused by errors in sugar chains on proteins and lipids. Glycosylation is one of the most frequent modifications of proteins. It takes place after the protein has been translated and can induce proteins to fold in a special way, be transported to a special place or to communicate with other proteins in the body.

Matchmaking patients with studies

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GENESIS Genetic Matchmaking. When searching new Mendelian disease genes​, the identification of phenotype-matched multiple patients/families is crucial.

Everyone knows the beginning of the age of industrialization in England was not pleasant. People looking for work crowded into cities, which then became cesspools of disease and pollution. One particularly dirty job done by women and children actually made them glow in the dark: matchstick making. Recently, anthropologists studying the skeleton of a young teenager discovered that the bones appear to show the physical hallmarks of phosphorus poisoning, among other conditions.

Matchstick making was incredibly popular in 19th century England, with hundreds of factories spread across the country. For 12 to 16 hours a day, workers dipped treated wood into a phosphorus concoction, then dried and cut the sticks into matches.

A Genetic Data Matchmaking Service for Researchers

Catherine Best does not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and has disclosed no relevant affiliations beyond their academic appointment. But these were the women who worked 14 hours a day in the East End of London and who were exposed to deadly phosphorous vapours on a daily basis. The effect literally causing the jaw bone to rot. Doctors soon began treating these women for the disease — which would often spread to the brain leading to a particularly painful and horrific death, unless the jaw was removed.

IQVIA has kick-started a new matchmaking trial service to “accelerate from Asia to the U.S. and Europe, now the epicenters of the disease.

John T. However, serendipity has never proven to be a reliable or scalable approach in science. As such, the Matchmaker Exchange MME was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface API. The core building blocks of the MME have been defined and assembled.

Additional databases that support internal matching are anticipated to join the MME network as it continues to grow. The content of genetic tests has gradually expanded over the years, with major leaps happening recently with the introduction of exome and genome sequencing. A portion of these unsolved cases harbor suspicious variants in candidate disease genes. For such cases, finding just a single additional unrelated case with a deleterious variant in the same gene and overlapping phenotype may provide sufficient evidence to causally implicate the gene, enabling a diagnosis for the patient.

Methods for identifying these additional cases have evolved over time. From word of mouth between colleagues to sharing published case reports, laboratory diagnosticians and clinicians have worked to uncover connections between patients Loucks et al, , this issue. In a world of rapidly evolving information technologies, however, a more efficient solution is needed that can scale with the exploding growth in genomic sequencing. Multiple projects have addressed this need by developing platforms that use genotype and phenotype driven matching algorithms to identify cases with common phenotypes and disrupted genes Washington et al.

However, no organized system existed to facilitate the interaction between these multiple disconnected projects Figure 1 before the Matchmaker Exchange MME.

The undiagnosed diseases program: Approach to diagnosis

Phossy jaw , formally known as phosphorus necrosis of the jaw , was an occupational disease affecting those who worked with white phosphorus also known as yellow phosphorus without proper safeguards. It was most commonly seen in workers in the matchstick industry in the 19th and early 20th centuries. Modern occupational hygiene practices have since eliminated the working conditions that caused this disease. Those with phossy jaw would usually begin suffering painful toothaches and swelling of the gums.

Communities with population bottlenecks are highly susceptible to genetic diseases. The Ashkenazi Jews, for instance, commonly suffer from.

Friction matches gave people the unprecedented ability to light fires quickly and efficiently, changing domestic arrangements and reducing the hours spent trying to light fires using more primitive means. But they also created unprecedented suffering for match-makers: One of the substances used in some of the first friction matches was white phosphorus. A British pharmacist named John Walker invented the match by accident on this day in , according to Today in Science History.

He was working on an experimental paste that might be used in guns. He had a breakthrough when he scraped the wooden instrument he was using to mix the substances in his paste, and it caught fire. Experimentation with these new devices produced the first matches that included white phosphorus, an innovation that was quickly copied.

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