Arshaan and Jahaan may seem normal but cannot move around normally. Each year they have to learn to walk again after painful surgeries that are required because of a rare genetic condition. Learn about their struggle with life as they stand and fall to live normal.[ Know More ]
"His condition has bonded us even more as a family. Everyone in the home brings in their contribution to support the only son in the home."[ Know More ]
Kicking off day two of Festival of Genomics London 2018, GenomeAsia 100k is addressing the lack of genomic data from South Asians by launching the “Map the Gap” campaign. Map the Gap aims to sequence 100,000 South Asian genomes, enabling the development of carrier tests, diagnosis, and treatment for rare diseases, cancers, and diabetes.[ Know More ]
Nearly 90 per cent of couples at risk of having babies with devastating genetic conditions have no family history of the disorders and no idea they are potential carriers, a study of 12,000 tests has found.[ Know More ]
While other kids her age were busy playing and running around, Pari Kumar mostly sat in a corner, barely able to see due to drooping eyelids. Afflicted with a condition called blepharophimosis, the four-year-old’s vision was severely hampered.[ Know More ]
Chennai: In a breakthrough case of heart valve treatment, a four-day-old baby was treated for critical pulmonary stenosis. The baby was diagnosed with the rare condition before birth and was kept on an emergency medicine infusion. A team of doctors at Dr Kamakshi Memorial Hospital treated the baby on the fourth day.[ Know More ]
Shreyash Barmate, 11, who lives in Madhya Pradesh, India, has progeria – a condition which ages his body around eight times faster than normal. The condition leaves Shreyash suffering from baldness, heavy wrinkles and weakened limbs. The Progeria Research Foundation believe the syndrome is so rare it affects around 1 in 20 million people.[ Know More ]
Sonia Vallabh lost her mother to a rare brain disease in 2010, and then learned she had inherited the same genetic mutation. She and her husband, Eric Minikel, went back to school to study the family of illnesses — prion diseases — in the hope of finding a cure for Sonia.[ Know More ]
So far, gene therapy has only treated rare disorders. Now, for the first time, it has been used to treat a boy with sickle cell disease, a common genetic disease[ Know More ]
A chronic disease is a human health condition that is persistent over a long period of time. It is termed 'chronic' if the disease lasts for more than three months
people are affected by diabetes in India, which is more than the entire UK population
Due to its prevalence, diabetes has an outsized effect on the health of the Indian population. It is a difficult disease to understand because there are multiple genes as well as environmental factors involved. Understanding the genetics of diabetes in India will reveal insights which can help patients around the world.[ Know More ]
Many people in India develop diabetes, a chronic condition with lifelong effects. Environmental factors such as diet can lead to the development of diabetes but there is also a significant genetic component.[ Know More ]
Indians is affected by diabetes
'Rare disease' as the name suggests is a rare disease which affects a minor percentage of the population. Most of these rare diseases are genetic and hence appear early in life.
of rare diseases do not have a cure
Though individual rare disease may affect only a small population, the combined burden of these diseases is large. The vast majority of rare diseases do not yet have a cure.[ Know More ]
Most rare diseases have a genetic component and in many cases, a single gene is responsible. Having more genetic data on Asian populations will allow faster diagnosis of rare diseases in these communities as well as help identify cures.[ Know More ]
of rare diseases can be traced to a single gene
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.