ISBER 2019Abasi Ene-Obong

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Current human genomic research is limited due to the under-representation of diverse populations

Revolutionary drug

targets can be missed in

global health research

<5%

80%

Limited inclusion of genetic

and clinical data from African

sub-populations may result in

suboptimal treatment outcomes

of GWAS (genome wide association studies) carried out in Caucasians (as of 2018)

of GWAS (genome wide association studies) carried out in people of African origin

of Oncology clinical trials carried out in people of African origin

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Greater acknowledgement on the lack of diversity in human genetic and clinical trial studies for precision medicine

«Does Precision Medicine Have a Minority Problem?»

July 19, 2019

«The Missing Diversity in Human Genetics Studies»

March 21, 2019

«Shocking Lack of Racial Diversity in Lung Cancer Clinical Trials»

September 6, 2019

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…yet there is a growing need for diversity in studies given the valueof African genetics for target discovery and drug development

PREMISES

• Modern humans originatedin Africa approx. 200,000 years ago resulting in a bottleneck effect that has left high levels of genetic diversity on the continent

• Africa contains morethan 2,000 languages representing approximatelyone third (1/3) of theworld’s languages, forwhich languages correlatewith genetic diversity

Drugs discoveries

New disease discoveries

LAUNCHED 2015

Treatment ofCardiovascular Disease

LAUNCHED 2019

Treatment ofOsteoporosis

$1B+year inrevenue

$22kpatientper year

The resultsof studying Africangenome

JULY 19, 2019

New Type 2Diabetes LocusIdentified in GWASof African Populations

Private and confidential

Why study African genetics?

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• Better fine mapping of genes and discovery of rare variants

• Ability to study closed (consanguineous) tribal populations with more gene variation than those studied in the past to identify protective variants

• Better drug efficacy

• Greater chance of finding someone living with knocked out gene to support development of RNA therapeutics

Drug Discovery

• Pharmacogenomics for better drug safety

• Development of polygenic risk scores for early intervention

Health Management of African Diaspora and African populations

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Introduction to 54gene

There are now more efforts to generate genomic data from the African continent and these hold the promise of improving healthcare for Africans and non-Africans

54gene is one of such efforts

Private and confidential

54gene is an African genomics company building the world’s largest pan-African biobank for the discovery of treatments and diagnostics for people of all races

We hope to contribute significantly to the diversification of genomic data used for research and treatment

We are building a cohort with the necessary ethical approvals, informed consents and robust phenotypic data

We store biospecimen in our biobank under the right conditions so that it retains samples’ quality until further use

We generate genetic data from the samples collected and in some cases perform additional disease-specific laboratory tests

Discovery of new drugs and treatment methods for all people

Improve precision medicine methods aimed at the African population

Investigating particular phenotypes, the interaction between genes and the environment

Affiliate research institutions and product development

companies

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Private and confidential

We aggregate different types of samples with detailed phenotypical data

Case samples / data

Case samples / data

DescriptionThese are samples from patients with diseases like:

• Cancers

• Endocrine disease

• Neurodegenerative disease

• Cardiovascular disease

• Sickle cell disease

Normal and reference samples/ data

Normal and reference samples / data

DescriptionThese are samples collected from non-sick individuals with extensive self-reported information

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Private and confidential

Some features of our Biobank

High statistical power to run Genome

Wide Association Studies (GWAS)

Multiple sample types: saliva, blood, tissue, urine

Phenotype collection methods: Electronic data, extensive self reported information, and family history

HIPAA and GDPR compliant data collection and storage processes

Ethnically diverse control samples with enough power in each ethnic group to improve the accuracy and applicability

of our dataset

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Private and confidential

How we are improving genetic diversity; Nigeria as a case study

Enrollment locationsOnly

2ethnic groups in Nigeria covered by 1 000 Genomes Project dataset

30+ethnic groups in Nigeria covered

by 54gene

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200mpeople

500languages

KanoKano

Sokoto

Plateau

Gombe

Abuja

Enugu

Calabar

Lagos

Ibadan

Kano

Private and confidential

Our plans are to go beyond

So how could we help each other in this challenging route?

Currently, 54gene is facing a process of lab expansion

sqft laband biobankavailable

1 000+

sqft genomics laband biobankis being builtin Nigeria

10 000+

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Our ethos is to contribute to the communities in which we operate

An independent Trust to fund the development of healthcare ecosystems in the countries we operate

Grants to empower the next generation of genomics researchers from Africa

54gene is setting up

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