NEW YORK (TIP): When New York City based Sikh American activist and lawyer, Gurjot ‘Jo’ Kaur and her husband Richie found out that their baby boy Riaan had been diagnosed with a severe condition giving him an average life expectancy of five years, their world came apart. Their son suffers from Cockayne Syndrome. An extremely rare condition, it’s part of a family of progeria-like diseases, and includes a phenomenon known as premature aging.

Children typically die of respiratory distress or kidney failure. There are only a few hundred cases reported in medical literature. Currently there exists no cure for the disease.

However, amid this life-altering crisis, Kaur who is well-known for her community-based activism decided not to buckle down. In a few months, Kaur with her unrelenting attitude has been able to launch the Riaan Research Initiative.

The initiative is a research advocacy organization directed at accelerating the development of a treatment for this ultra-rare and fatal neurodegenerative condition.

Riaan Research Initiative is one of the few women of color-led patient organizations and one of the first known Sikh-led rare disease patient advocacy organizations.

Talking about this initiative Kaur said, “We’re organizing to fight this disease with everything we’ve got. While significant advancements have been made regarding identifying disease-causing genetic mutations, older rare diseases like Cockayne Syndrome continue to silently lurk, wreaking havoc on families and killing children across generations.”

“Any possible treatments for ultra-rare diseases like Cockayne Syndrome often remain neglected in the dustbins of laboratories and/or sit comfortably for decades as conceptual subjects of stale science papers. We’re going to change that,” she said.

In March this year, the parents received the devastating news that there were no treatments or cures, and that all they could do was manage their child’s symptoms.

The symptoms of this lethal disease include vision and hearing problems, failure to thrive, microcephaly, an impaired ability to sit, walk, eat, or speak/communicate, as well as failures in multiple body systems, including pulmonary function, liver, kidney, and cardiovascular systems.

The disease is so rare that there are only a few hundred cases reported in medical literature.

After speaking with experts and other patient advocacy organizations, Riaan’s family learned that while treatment did not exist for their son, the primary reason there was not a cure for this devastating disease was the lack of research funding.

The family pored over research and met with engaged and optimistic scientists who believe a breakthrough is possible through gene replacement therapy.

Three months after their son’s diagnosis, Riaan’s family founded Riaan Research Initiative. Its first project is to establish a program for gene replacement therapy for Cockayne Syndrome (CSA mutations). Riaan Research Initiative is working with the University of Massachusetts Medical School, and the lab of Dr. Miguel Sena Esteves on this multi-year, multi-million-dollar project.

The CSA gene therapy program will be led by Dr. Rita Batista, and include Dr. Sena Esteves, international gene therapy pioneer Dr. Terence Flotte, and Dr. Alisha Gruntman.

Ajit Singh, a board member of Riaan and partner in Artiman Ventures, says, “Genetic disease can impact members of any community or background, whether they’re Sikh, Hindu, Christian, Muslim, Jewish, white, Black, brown, rich or poor.”

“Many times, there are no cures for these vicious diseases not because it is scientifically impossible to develop one, but because no one has created a research team and put in the resources to do so!”

“Riaan Research Initiative was founded to create a path to treatment for diseases like Cockayne Syndrome, and with the community’s financial support, we can push the research ecosystem to develop groundbreaking treatments to save children’s lives.”

Kaur says, “We request the community’s support to help us meet our ambitious fundraising goals. Gene therapy programs cost millions of dollars, and rely on private funding.”

“We aim to raise one million dollars by Riaan’s birthday in December 2021 to fund the research and development of a viable gene therapy.”