The gap in genomic data for South Asian populations is critical

South Asia is home to a number of founder populations. Individuals from founder populations can trace their genetic roots back to a small group of ancestors. Some founder populations in South Asia have grown to be more than 1 million people. These groups have a higher incidence of genetic diseases.

Our data will create vital reference genomes for South Asian populations

A reference genome will allow us to see the common traits among members of a specific population. Creating reference genomes for South Asian populations will allow us to better diagnose children with rare genetic diseases and develop carrier tests to reduce such diseases in the future.

Meaning better diagnostics for millions of people

By mapping the gap in genomic data for South Asians, doctors will be able to diagnose genetic disorders more quickly and more accurately for those populations. The carrier tests developed as a result of our research will help people from all communities in South Asia determine their risk for inherited diseases.

Your genes can tell you how related you are to different people, your ancestry, and your risk for inherited diseases.

By studying the DNA of people from around the world we can understand how we inherit risk for diseases from our ancestors. We can also better understand these diseases and develop new diagnostics and treatment.

South Asians are at higher risk for genetic diseases as a result of a many groups only allowing marriages within their own community. As a result, 6% of children in the region are born with a genetic disorder. In India alone, more than 50 million people are currently affected by a genetic disease.

Map the Gap includes individuals from Bangladesh, India, Pakistan, Nepal and Sri Lanka.

We will create "reference genomes" which will serve as a template for South Asian communities at high risk for genetic diseases. This will allow doctors to identify diseases in children faster and provide better treatment.

Donate and share the message! You can also sign up for the Map the Gap database. We will contact you if a study arises related to your population.

Help us Map the Gap in Genomic Data

Map the Gap’s data will provide doctors with the information needed to diagnose genetic disorders more quickly and more accurately. Carrier tests developed as a result of our research will help people from all communities in South Asia determine their risk for inherited disease and then make lifestyle changes to help prevent them.

It takes 25 people from each community to create a reference genome, and it costs $1,000 per person to sequence their whole DNA. Help us raise $150,000 so we can create four new reference genomes and make an impact on preventing genetic diseases.

1 in 20

Indians hit by rare diseases

1 in 10

pediatric hospital visits are because of a genetic disease

View articles to see risk by country

Currently 50 million children affected by genetic disease in India

Indian J Pediatr 2001 Jan

India, like other developing countries, is facing an accelerating demographic switch to non-communicable diseases. In the cities congenital malformations and genetic disorders are important causes of morbidity and mortality.

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Indians prone to rare genetic diseases: Study

By : PTI | Boston | Published : July 19, 2017 4:30 pm

People living in India and other South Asian countries are particularly vulnerable to rare genetic diseases. Several diseases specific to South Asian populations had been identified in the past, but the genetic causes of the vast majority remained largely mysterious.

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In South Asian Social Castes, a Living Lab for Genetic Disease


In certain states in southern India, anesthesiologists know to ask anyone undergoing surgery whether they belong to the Vysya, a regional group traditionally associated with traders and businesspeople.

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Government Submits Rare Disease Policy to Delhi HC, Recommends Rs 100 Crore for Genetic Diseases

BY ANOO BHUYAN ON 26/05/2017

In November 2016, the Delhi high court had ordered the government to finalise a policy on rare disease as patients repeatedly petitioned the court asking that the expensive drugs required for treatment be provided for free.

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Genetic disorders cripple over 50 lakh people in Telangana and Andhra

TNN | Updated: Mar 1, 2017, 11.19 AM IST

HYDERABAD: Telangana and Andhra Pradesh together have over 50.79 lakh people who suffer from one of the globally identified 7,000 types of rare diseases. But neither the state nor the Centre recognise the concept of rare disease, leaving hapless parents struggling to cope.

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One in 20 Indians hit by rare diseases


A Hindi movie in 2009 depicted the poignant story of a child suffering from a genetic condition, Progeria, that causes premature ageing. The subsequent year, another movie showed the life of a person living with an autism disorder that causes difficulty in communication and social interaction called Asperger Syndrome.

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700 children born with genetic disabilities due to cousin marriages every year

8:45AM BST 22 Aug 2010

The problem is worst among children born in Britain's Pakistani community, where more than half of marriages are between first cousins, and children are 10 times more likely than the general population to suffer genetic disorders.

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Cousin marriage ‘triggers disorder’

The Newspaper's Staff ReporterUpdated March 27, 2017

LAHORE: The trend of marriages between cousins, within a clan or caste should be discouraged as the number of children suffering from a group of genetic diseases, called Lysosomal Storage Disorder (LSD) in medical terminology, is on the rise.

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Study finds 1,317 knocked-out genes in DNA samples from Pakistanis

Updated July 04, 2017

Research published in the journal Nature has analysed the DNA of 10,503 Pakistanis who were participating in a Pakistan Risk of Myocardial Infarction Study (PROMIS) and discovered 1,317 disabled or “knocked-out” genes.

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A new ray of hope for Pakistan's thalassemic children

Updated September 27, 2015

From the very first day of my career as a journalist, I have heard story after story about the horrific state of healthcare in Pakistan. The tales are ever-repeating; inhumane treatment of patients, filthy hospital premises, expired medicines, negligence of doctors... the list is long and depressing.

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Yes, the Sinhalese have their origins in Bengal, Odisha

New Delhi | Updated: December 16, 2016 11:55 am

When three years back, a Sri Lankan envoy sought Indian support on the basis of the claim that the Sinhalese people are descendents of Bengalis and Odias, there was an upsurge of perplexity and outrage among large sections of the Indian population.

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Gene diseases: Paying too big a toll

Sunday February 27, 2011

It was a few years ago that two brothers walked into the Human Genetics Unit of the Colombo Medical Faculty with a large rolled up flip-chart. Meticulously drawn on it were boxes in different colours.For Medical Geneticist Dr. Vajira H.W. Dissanayake that moment will be etched in his memory forever.

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What Genetic Studies Say about Sinhalese, Tamils in Sri Lanka and South Indians

Posted on February 5th, 2011

Sri Lanka is home to many different ethnic groups. They all have equal individual rights to Sri Lanka. No one has more rights than another for whatever reason or excuse. Due to the close proximity to South India, genetic interactions between Sri Lanka and South India share a long history. However, this does not preclude the possibility of Sri Lanka having a native population unique to the island.

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Dealing with Thalassaemia

2017-03-08 14:37:59

With no permanent cure except for bone marrow transplant, which is available only to a minority of patients, and lifelong treatment in terms of regular blood transfusions for others, Thalassaemia is recognized as a significant health challenge to many in today’s context.

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Life with sickle cell

20-26 June 2014

The head nurse in the sweltering Bheri Zonal Hospital in Nepalgunj goes through patient files. She stops at one of them and says, “Every week we get a couple of new cases of sickle cell disease.”

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Nepal ethnic group gets expanded help for sickle cell disease

Posted on Sep 21, 2017 by Global Press News Service

NEPALGUNJ, NEPAL — Ajit Chaudhary looks healthy. But Chaudhary, 21, who is thin with a fair complexion, says he has suffered from frequent aches in his chest, knees and other joints since he was 16

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Blood-related marriages may lead to genetic disorders: Doctors

Published: 2017-04-15 19:05:15.0 BdST | Updated: 2017-04-16 01:00:58.0 BdST

“We can see many genetic disorders that can be prevented if consanguineous (blood related) marriages can be prevented,” Diabetic Association of Bangladesh President Prof AK Azad Khan said, citing Cyprus as an example.

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Bangladeshi man begs government to euthanise his sons and grandson who have same genetic disorder

Tuesday 24 January 2017 13:59 GMT

A Bangladeshi father is begging his country's government for permission to euthanise his sons and grandson because they have “no hope of recovery”.

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Moyamoya: A disease well fought in Bangladesh?

Published at 09:26 PM September 01, 2017

In Japanese, the word “Moyamoya” means “puff of smoke,” but the disease it represents is a rare and progressive cerebrovascular disorder caused by blocked arteries at the base of the cranium. Moyamoya also describes the look of the tangle of tiny vessels formed to compensate for the blockage.

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GenomeAsia 100k

GenomeAsia 100K was launched in 2016 with the goal of sequencing 100,000 Asian genomes. With partnerships from local bioinformatics leaders such as MedGenome in India and Marcogen in Korea, the scientific team has already sequenced nearly 5,000 genomes. This will enable precision medicine on a global scale and fill the gap in data that exists in Asian populations. [ Know more ]

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