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Variant Bio is developing life-saving therapies by studying the genes of people with exceptional health-related traits.

Mochtar Riady Institute for Nanotechnology (MRIN) and Variant Bio Launch Partnership in Indonesia

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Skyscrapers and bustling cities, lush forests, mountains, and the unlimited coastlines of Indonesia. Photo credits: Isabella Apriyana

Whenever I tell people that I am from Indonesia, the responses I get typically revolve around tropical paradise in such a far away place, volcanoes, earthquakes, and Bali. These are correct depictions, but nowhere near enough to describe this magnificent country. It is only when discussions move toward my work in the human genetic diversity of Indonesia that things get more interesting and I can see eyes widening with awe and sometimes disbelief at how little this huge country is known on the global level.

Indeed, the Indonesian archipelago has astounding diversity that remains largely underrepresented in the genetic literature. This chain of 13 thousand inhabited islands is home to 275 million people, making it the fourth most populous country in the world. Located along the equator, Indonesia is blessed with rich nature including forests, volcanoes, savannas, and pretty much unlimited coastal lines. In other words, you name it, we’ve got it. There are also more than 1300 ethnic groups and subgroups (2010 National Census) speaking more than 700 languages (SIL International 2022) in this country, making it one of the most culturally and linguistically diverse regions on the planet. The archipelago is a key hotspot for studying recent human history, as shown by countless ancient remains discoveries as well as evidence of genetic introgression of ancient hominins in its modern populations (see here for details). Such deep migration history, population admixture, geographical isolation, and environmental pressures in the past have resulted in culturally and biologically diverse populations today. At a molecular level, the wealth of Indonesian population diversity could potentially accrue important genetic variants related to diseases and environmental adaptations that are yet to be characterized in detail.

Various shapes of traditional houses show how diverse the communities in Indonesia are. Left to right: traditional houses from Sumba Island, Mentawai Island, Central Sulawesi, North Borneo, and Papua. Photo credits: Isabella Apriyana and Herawati Sudoyo

As a researcher in this field, working in Indonesia couldn’t be more exciting. Even more so since I have had the privilege and opportunity to join what are currently the brightest minds of the country tackling these topics in human genetics. Formally known as the Genome Diversity and Diseases Lab, the research group I am now a part of was first established more than two decades ago at the Eijkman Institute for Molecular Biology in Jakarta, Indonesia. It has evolved from studying mitochondrial diseases and blood disorders to human genomics, evolution, and health. The group is led by Dr. Herawati Sudoyo, a world renowned expert on Indonesian population diversity, and includes Dr. Safarina Malik, a prominent molecular biologist with expertise in lifestyle diseases and nutrigenomics, Dr. Pradiptajati Kusuma, a population geneticist, and currently nine junior researchers (including myself) with backgrounds in molecular biology, population genetics, bioinformatics, computational biology, and biological anthropology.

Half of the Genome Diversity and Diseases Lab members in Dieng Plateau, Central Java. July 2022. From left to right: Leonard Taufik, Lidwina Priliani, Isabella Apriyana, Dr. Herawati Sudoyo, Firda Maruf, and Dr. Pradiptajati Kusuma. Photo credit: Ichsan

We are currently the only group in the country working extensively on Indonesian human genetic diversity. Over the years, our research group has worked on studies with more than 150 Indonesian ethnic communities. Along the way we have met with communities across the archipelago, from islands off the coast of Sumatra to the lush jungles at the heart of Borneo, and from the highest village on the island of Java to the swamps of Papua. We work with communities of hunter-gatherers, agriculturalists, and urbanites alike. And yet, there is still so much to understand about this magnificent country!

Activities of the Genome Diversity and Diseases Lab: from the field to the lab. Photo credits: Isabella Apriyana

Our involvement encompasses major milestones in human population genetics and genomics studies, such as the ambitious project mapping Asia’s population genetic diversity by the HUGO Pan-Asian SNP Consortium, the first and most extensive report on Indonesian genetic diversity, and very recently a study on the archaic introgression among Papuans.

Beginning in 2022, the Genome Diversity and Diseases Research Group moved to the Mochtar Riady Institute for Nanotechnology (MRIN), a private research institution in Tangerang, near Jakarta, that is part of the Pelita Harapan University Medical Science Group. MRIN conducts research in health using molecular biology approaches.

Prior to moving to MRIN, our group had already worked for months with Variant Bio, holding many Zoom calls and extensively co-designing a project together entitled “Understanding Indonesia’s Genetic Diversity and Searching for Novel, Disease-Associated Genetic Variants.” MRIN and Variant Bio formally entered into a research collaboration in February of this year, and in March the project received approval from MRIN’s Ethics Committee.

Improving global sharing of genetic and phenotypic reference data by involving underrepresented populations is particularly critical for finding novel health-related variants, and for ensuring that any benefits of precision medicine initiatives (e.g., pharmacogenomics, gene therapy) are fairly distributed to everyone. Therefore, this research collaboration between MRIN and Variant Bio seeks to address the gap by initiating an integrated study of Indonesian population diversity, one where we plan to combine genetics, functional genomics, metabolomics, and epidemiological and clinical data to develop a preliminary understanding of genetic variations (especially disease-causing or disease-protective ones) among different Indonesian ethnic groups. For this study we will collect and analyze data from five ethnic populations that are selected to represent a wide geographical distribution across the archipelago (West, Central, and East Indonesia — see image below for approximate study locations).

Google Map of Indonesia adapted by the author to reflect locations of the MRIN-VB study

So far this year we have kickstarted the project with community consultations in two locations: 1) the Dieng Highland of Central Java, and 2) Northern Bali (see here for an article by medical anthropologist Noah Collins on the community engagement process there). Both communities expressed excitement to be part of this research, as they hope to understand more about both their individual and their community health. Next, our team will return to these sites to start sample and health data collection. Stay tuned for further details from this exciting collaboration!

About the Author:

Isabella Apriyana (Ibel) joined Variant Bio’s Standley Fellowship Program in 2021. Ibel started her career at the Eijkman Institute for Molecular Biology in Jakarta in 2012 doing research on wildlife and conservation genetics, and later became involved in human population genetics studies. She has extensive fieldwork experience working with various ethnic groups and remote communities across Indonesia. Ibel has a Bachelor’s degree in biotechnology from Atma Jaya Catholic University in Jakarta and received her Master’s degree from the Australian National University where she studied biological anthropology. Her accolades include receiving National Geographic’s Young Explorer Grant (2016) and an Australia Awards Scholarship (2018). She is currently a Research Assistant within the Genome Diversity and Disease Research Group at MRIN. As a Variant Bio Standley Fellow, Ibel is responsible for managing and executing the collaborative project between MRIN and Variant Bio that focuses on understanding the genetic diversity of populations in Indonesia and searching for novel, disease-associated genetic variants across the archipelago.

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Variant Bio
Variant Bio

Published in Variant Bio

Variant Bio is developing life-saving therapies by studying the genes of people with exceptional health-related traits.

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