Rare Disease Genome Network (RDGN)

About 3.5–5.9% of the world population are affected by a rare disease, yet there are still many obstacles to overcome, including a difficult diagnostic process, limited access to effective therapies and high-quality care, and invisibility in the healthcare system. Understanding the genomes of uncommon disease can help clinicians determine the source of undetected disorders, helping families save years of hospital visits and unnecessary tests. Given that 80% of rare diseases are genetic or have a genetic component, comprehensive genomic sequencing increases the potential of uncovering an underlying etiology in patients.

There are currently more than 25 million individuals in Africa living with a rare disease, yet many of them, as well as their families, are often left coping alone and in silence. And while there are more than 6,000 individual rare genetic conditions, rare disease is collectively common in Africa.

The Rare Disease Genome Network (RDGN) is an advocacy group built on ESRI's  Geographic Information System (GIS) that allows patients with rare diseases host their genome with full control to their genome. The platform  serves as an advocacy group where individuals with similar rare disease can network and discuss treatment related their diseases and serve as a hub where these individuals can give biopharmaceuticals access to their genome in exchange for tokens to support available treatments. The platform also offers:

• Holistic care for people with rare diseases—including mental, social, and legal support since individuals with similar rare disease are together in a hub.

• Support daily care management for patients and/or their caregivers: Individuals can easily track nearest healthcare providers in case of emergency

• Mitigate barriers to accessing medical care after diagnosis which disproportionately affect disinvested communities and historically underrepresented identity groups in Africa

• Enhance coordination of care and strengthen data sharing between health care professionals, specialty services, and patients.

• Empower patients with quality information about their conditions to fight stigma associated with rare diseases; and

• Promote community and connection among rare disease patients and their advocates.

All rare disease patients. Our first priority is to increase awareness of rare disease and fight stigmatization that comes with it by bringing people with similar disease together in a hub to form a network in Africa. Our second priority is to give individuals with rare disease the ownership to their data and how it can be a source of income to support available treatments within or outside Africa. Our third priority is to collaborate with pharmaceuticals to accelerate research for these groups.

I have spent five years in the bio-tech space and two of those years were in rare disease and data sharing. Data sharing is one of the most debated concept in the biotech space with scientists not willing to give the ownership to the individuals where these data are generated. This became a motivation for me to start the "Digital Human" (https://www.linkedin.com/pulse...) project in 2021. And over the last six months we have proved that dynamic consent with genome hosted on the ArcGIS platform offers the best security for data sharing (https://www.linkedin.com/pulse...). And to prevent genomic data from being stolen or copied from Africans, GeneMap has built a web collaborative tool that offers maximum security for genomic data with individuals in control of their data in Africa (https://www.linkedin.com/pulse...). These individuals decides what research to participate in and the benefits from such studies.

The cost of Whole Genome Sequencing (WGS) in Africa is expensive for a continent where more than 50% survive on a dollar per day. And the lack of African genome has affected diversity and balance in research. With funding from MIT, GeneMap would be able to partner with sequencing labs and host more Africans genome with rare disease in order to build a network where these individuals can interact and connect with one another.

GeneMap's solution of hosting genome on ESRI's GIS is the first of its kind in Africa. It is a solution for the most controversial debate in the scientific community concerning data privacy and ownership. Our solution gives individuals right to their genome and ownership of their data. Individuals with data on our platform can consent to what research they want to participate in with direct benefits that can be passed on from generation to generations. GeneMap converts individuals genome using simple arithmetical formulas to build map layers on existing technology.  

1. Search for sponsors and create more than 20 unique networks for people with various rare disease in Africa

2. Host about 1000 genome on our ESRI server with individuals in control of their data

3. Partner with Governmental organization to implement new born screening in all teaching hospitals

4.  Successfully establish a service line in community healthcare that becomes the standard of care because it elevates rare disease patients to the priority in healthcare they should be

1. Number of consented  genomes hosted on our server

2. Number of networks for individuals with rare disease

The two problems that have not changed in the marketplace is the lack of data privacy and ownership of data belonging to people with rare disease in Africa. Before now the technology and model did not exist to accomplish this on scale. Until we can integrate new born screening across all rare diseases, we cannot disrupt this.

ArcGIS Online is a system created by ESRI aimed at providing a common platform to find, share, and organize geographic content and to build GIS applications. The web front end to ArcGIS Online is ArcGIS.com. Through ArcGIS Online you can access maps, applications, and tools published by ESRI and other geographic information systems (GIS) users.

ArcGIS Online provides web services that the user can use as data sources in ESRI products such as ArcMap, and for geoprocessing and analysis.

 ArcGIS Online enables you to control who can access the resources that you upload. You can create one or more user groups, within which you an share resources and collaborate. ESRI provides services that enable you to host your own content in ArcGIS Online, and you can publish your content as part of a community basemap that users can access freely through ArcGIS Online as a map service. ArcGIS Online also includes tools for creating online maps and for viewing maps created by others.

Since our goal is to assist Africans with rare disease, compassion for others serves as our compass. This true compass also applies to people, and it especially does so for our team. These individuals come first. We acknowledge the lack of diversity and balance in research and the lack of data ownership and we want to solve this problem.

The solution is to provide a platform where people with rare disease can host their genome and network with each other. Individuals with rare disease will have their genomes hosted based on a certain subscription fee. Networking among these group of individuals will enable them communicate with people of like-minds sharing deep thoughts and bond. This will help them break the social barrier and stigmatization they face within the society.

GeneMap will continue to accept donations from individuals and organization to increase diversity and balance in research. Also, GeneMap will partner with other research organization to apply for grants to accelerate drug discovery among the various group. Subscription fees by individuals whose data are hosted on our platform will serve as another source of income for GeneMap

GeneMap has benefitted from a monthly grant of $250 from DNA compass to sustain our work of hosting genomes for rare disease patients. Over the past six months DNA compass have also donated about $2000 to support the team and to improve genomic literacy among the various groups in Africa.