The goal of Project MinE is to systematically dig deep into thousands of DNA profiles in order to discover the different genetic mutations that can be connected with ALS. This connotation of “digging” or literally “mining” into the genetic data to find something valuable is the source of the “mine” in Project MinE.

DNA, or deoxyribonucleic acid, is the structure that carries all of the encoded hereditary characteristics inside of living organisms. DNA is present in the nucleus of all body cells. A DNA molecule consists of two long intertwining chains of molecular building blocks. Each of the building blocks in one of the chains is connected to a corresponding building block in the other chain. There are four types of building blocks: A (adenine), T (thymine), C (cytosine), and G (guanine). For example, the sequence of building blocks in a DNA chain might look something like this: AGGCTTATAAGGCCA.

These DNA molecules are surrounded by proteins which ensure that the long DNA chains are folded and twisted in an orderly fashion. The DNA molecules and the surrounding proteins form together what are called chromosomes. In each human cell nucleus, there are 46 chromosomes, organized in 23 pairs. Each pair features one chromosome inherited from the father and one from the mother. An inherited trait resides in a small piece of DNA called a gene. A full set of genetic information from a living organism is referred to as a genome.

Although a large portion of the DNA in each human being is exactly the same, there are also unique differences. You can see this reflected in a wide range of physical characteristics, such as eye colour, hair colour, and height. For certain diseases, a predisposition to develop them is determined in the DNA and therefore hereditary. In addition, there are also spontaneous changes, known as mutations, which can occur in the DNA and also cause various diseases. It is precisely these genetic differences and mutations in the DNA of ALS patients that we are examining in order to come to a better understanding of which genes contribute to the onset of the disease.

A DNA profile is the full description of the unique DNA characteristics of a given organism. It can be mapped and read with the aid of whole genome sequencing techniques. The full DNA code of an individual can be obtained from a blood sample. By comparing the full DNA profiles of people with ALS with those of carefully selected control subjects, Project MinE aims to detect the genetic differences and mutations that contribute to ALS.

Whole genome sequencing is the technique used in laboratories to read and map the complete DNA code of a living organism. The result of this process is a full DNA profile of that organism. On their own, these profiles do not provide a lot of valuable clinical information. They must be compared with the profiles of control subjects in order to come to a better understanding of the genetic differences and combinations of mutations that contribute to the onset of ALS.

We know that there are multiple (genetic) factors that contribute to people developing ALS and that oftentimes it is a complex combination of these (genetic) factors that leads to someone getting ill. We also know that it is possible for these genetic mutations to show up in healthy individuals and that they never lead to developing ALS. Because of this complexity, it is imperative for us to compare as many DNA profiles from people with ALS with control subjects as possible. This will allow us to come to a better understanding of the genetic differences and combinations of mutations that have a strong causal effect on an individual developing ALS. The more profiles we study, the more trustworthy the results of our research will be.

The DNA of 15,000 people with ALS needed for Project MinE will come not only from the Netherlands, but also from other countries around the world. Thanks to the cooperative relationship between the Netherlands ALS Center and other leading ALS centers throughout Europe, via the European Network for the Cure for ALS (ENCALS), and beyond, Project MinE can be quickly set up and rolled out further.

The Netherlands ALS Center is located in the University Medical Center (UMC) Utrecht. The goals of the ALS Center are to optimize and accelerate the diagnosis of ALS, to improve the quality of care and treatment that ALS patients receive, and to initiate, encourage, and facilitate research into the cause and a possible cure for ALS. The center is headed by Professor Leonard van den Berg and works closely with several ALS centers throughout Europe and the rest of the world.

The mission of the ALS Foundation of the Netherlands is to contribute to discovering the cause and eventually a cure for ALS in the future, while helping to make the lives of ALS patients more bearable now. It executes on this mission by organizing and coordinating fundraising campaigns, and facilitating the flow of funds in order to expand ALS treatment and research, most notably by the Netherlands ALS Center. The foundation bears the hallmark of the Central Fundraising Bureau (Centraal Bureau Fondsenwerving) and is officially registered with the Dutch Tax Authority (Belastingdienst) as an organization that serves the public good (Algemeen Nut Beogende Instelling).

For the research undertaken by Project MinE, genetic material obtained from blood samples of both people with ALS and control subjects will be used. If you are a resident of the Netherlands, your genetic material is also very welcome for several studies being undertaken by the Netherlands ALS Center, including the PAN research. If you’re interested, you can register directly via the following website: www.alsonderzoek.nl. Outside of the Netherlands, we recommend that you contact your doctor or local ALS center on how to participate in local ALS research. If your local ALS organization has not yet joined Project MinE, encourage them to get in touch with the Netherlands ALS Center.

For this study, genetic material from both people with ALS and control subjects will be used. In order to guarantee the quality of the comparative analysis, the control subjects must meet certain criteria. For this reason, it is not possible for control subjects to register themselves for the study.

For this study, genetic material from both people with ALS and control subjects will be used. Control subjects need to conform to specific requirements. A Standard Operating Procedure has been defined for this and can be found here.

Along with genetic material, some minimal clinical data needs to be collected for each individual in Project MinE. This core clinical dataset has been defined for Project MinE and guidelines can be found here. This includes the Edinburgh Cognitive and Behavioural ALS Screen (ECAS).

In addition, each individual can be asked to fill in a questionnaire about life style and environmental factors (form for patients/controls, form for examiners), for international collaborative research into risk factors for ALS.

As part of the European FP7-funded EuroMOTOR and the JPND-funded SOPHIA project, SOPs for neuropathology and blood & urine sample collection have also been developed.

If you’d like to learn more about collaborative data collection, please contact the project office at info@www.projectmine.com.