Drug manufacturers have begun amassing enormous troves of human DNA in hopes of significantly shortening the time it takes to identify new drug candidates, a move some say is transforming the development of medicines.
The efforts will help researchers identify rare genetic mutations by scanning large databases of volunteers who agree to have their DNA sequenced and to provide access to detailed medical records.
It is made possible by the dramatically lower cost of genetic sequencing - it took government-funded scientists $3 billion and 13 years to sequence the first human genome by 2003. As of last year, the cost was closer to $1,500 per genome, down from $20,000 five years ago.
Regeneron Pharmaceuticals Inc, which signed a deal with Pennsylvania’s Geisinger Health System in January 2014 to sequence partial genomes of some 250,000 volunteers, is already claiming discoveries based on the new approach. Company executives told Reuters they have used data from the first 35,000 volunteers to confirm the promise of 250 genes on a list of targets for drugs aimed at common medical conditions, including high levels of cholesterol and triglycerides.
Regeneron says it has also identified "several dozen" new gene targets, including a novel gene that plays a role in obesity.
Pfizer Inc, Roche Holding AG and Biogen Inc are working on similar projects that use DNA and patient health data to find new drug targets or predict the effects of drugs.
Their investments have been inspired by early successes in cancer with drugs such as Pfizer's lung cancer treatment Xalkori, which was approved in 2011 and targets mutations in tumors driving the disease. More recently, Vertex Pharmaceuticals has changed the treatment of cystic fibrosis with Kalydeco, which targets the disease’s underlying genetic cause.
"All of a sudden, it all opened up," as companies recognize the potential for drugs targeting genetic glitches, Dr. Eric Topol, a genomics expert at the Scripps Translational Science Institute. "It's starting to really become a new preferred model for drug development."
In the past, discovering such genes was a painstaking process, often involving years of research into isolated populations. In 1991, for example, researchers discovered a rare mutation in a gene called Angptl3 that caused very low levels of artery-clogging cholesterol and triglycerides among families in the remote Italian village of Campodimele.
It took nearly two more decades and several groups of scientists to fully understand the potential cardiovascular benefits linked to mutations in that gene.
Since last autumn, the Regeneron Genetics Center has sequenced the DNA of more than 35,000 Geisinger patients and is on track to sequence 100,000 by year end. Already, the company has identified 100 people carrying similar cholesterol-affecting mutations to those first observed in Campodimele and elsewhere.
“You no longer have to find that one rare family in Italy, because it's just in the database," said Dr. George Yancopoulos, chief scientific officer of Regeneron.
Identifying target genes is just a first step, though, and does not guarantee that a drug can be developed on a genetic lead, or that it will ultimately be safe and effective enough to be used.
Experts also differ on approach. Regeneron is sequencing exomes, the protein-making genes that comprise 1 to 2 percent of the genome, a search that costs roughly $700 per person. Others favor looking at the whole genome, which costs the $1,500 per person.
Craig Venter, one of the first scientists to sequence the human genome, believes the whole genome approach will be more meaningful over time.
"I'd rather have a gold mine with a deep vein of gold and modern industrial equipment to mine it rather than sitting there with a pan in a stream looking for gold," he said. "Both will find gold. It's a question of how much you find."
Even so, the early returns from new "genomic" medicines have attracted attention from the White House. In January, President Barack Obama said he would seek $130 million from Congress to gather genetic data from 1 million volunteers as part of a “precision medicine” initiative.
Regeneron is lobbying for the Geisinger database to become a cornerstone of that effort, and proposes creating a consortium of drugmakers to fund it. In return, Yancopoulos said, the company hopes to recoup some of its investment.
Dr. Francis Collins, director of the National Institutes of Health, which is in charge of the precision medicine project, identified Regeneron among a short list of potential contributors to the 1 million-strong DNA study. Others on the list include Kaiser Permanente, Mayo Clinic, and the Marshfield Clinic in Wisconsin. A decision is expected by early fall.
For drug companies, the lure of a big payoff is strong. Regeneron and its partner Sanofi are expected to soon win regulatory approval for a cholesterol-lowering drug that works by blocking the PCSK9 gene. Amgen and Pfizer have developed similar treatments.
Individuals born with non-functioning versions of PCSK9 have very low cholesterol. The new drugs mimic that effect and are considered a poster child for treatments that take advantage of glitches in the genome that prove beneficial to the rare individuals who carry them. Wall Street analysts project Regeneron/Sanofi's PCSK9 drug will generate revenues of $4.4 billion by 2019.
>> SUBSCRIBE TO OUR NEWS ON WHATSAPP CHANNELS HERE (FROM YOUR CELL PHONE!)<<
Subscribers support this independent news site.
- Puerto Vallarta Businesses See Slowdown With Strong Peso Resulting in American Tourists Spending Less Puerto Vallarta, Mexico - The onset of 2024 has ushered in a challenging period for the restaurant sector and various other businesses in Puerto Vallarta, as reported by Francisco Gabriel Vizcaíno Rendón, President of the Employers' Confederation of the Mexican Republic (Coparmex) in the city. A significant factor contributing to this downturn is attributed to…
- Vallarta SBK Dance Festival 2024: A Congregation of Rhythms and Revelry in Puerto Vallarta Puerto Vallarta is set to host the electrifying Vallarta SBK Dance Festival 2024 from April 25 to April 29, promising four days of unparalleled musical and dance experiences. Located amidst the picturesque beaches of Puerto Vallarta, this festival is a celebrated congress dedicated to salsa, bachata, kizomba, and zouk, inviting enthusiasts from across the globe…
- Two Celebrated Weekly Markets in Puerto Vallarta That You Must Visit Before The Season Ends Puerto Vallarta, Mexico - Puerto Vallarta, renowned for its vibrant culture and bustling markets, is set to bid farewell for the season to two of its most cherished weekly markets in May 2024, but there is still time to visit. The Art & Market Marina Vallarta and the Olas Altas Farmers' Market have been central…
- Dancing in the Streets: Puerto Vallarta’s Annual Carnaval Promises Three Days of Unforgettable Celebrations Puerto Vallarta is set to host a vibrant celebration from February 22 to 24 under the theme “Dance, laugh, and celebrate” in anticipation of the annual Carnaval festivities. This year's Carnaval will feature an eclectic mix of live music performances, including mariachi, norteño, DJ sets, and banda music, spread out over four stages located in…
- Puerto Vallarta Anticipates Booming Tourism Season for Holy Week and Easter Puerto Vallarta is poised to achieve remarkable occupancy rates during the upcoming Holy Week and Easter holiday season, continuing its recent trend of strong tourism performance. Luis Villaseñor Nolasco, the director of the Public Trust for Tourism Promotion and Advertising of Puerto Vallarta, shared optimistic forecasts for the destination's tourism sector, extending from the present…
- Puerto Vallarta to Host the Fiestas de Mayo Festival 2024 Puerto Vallarta, Mexico, is gearing up for the eagerly anticipated Fiestas de Mayo Festival, set to take place from May 16th to June 2nd, 2024. Now in its third consecutive year, the festival will be held at the Explanada Vallarta, conveniently located near the International Convention Center (CIC) of Puerto Vallarta, promising an accessible and…
- Upcoming Highway Project Promises Quicker Access to Puerto Vallarta’s Shores Puerto Vallarta, Mexico - Following the Federal Government's announcement in July 2023, the Compostela-Las Varas segment of the new Guadalajara-Puerto Vallarta highway is set to open in March 2024, with the entire project expected to be completed by July 2024. This development has sparked curiosity among residents, motorists, and transport companies regarding the future travel…
- Puerto Vallarta to Welcome the First Breathless Resort & Spa in 2025, Expanding Luxury All-Inclusive Options Puerto Vallarta, Mexico - A new luxury hotel, Breathless Puerto Vallarta Resort & Spa, is set to open its doors in 2025. This resort marks the debut of the Breathless Resort & Spa brand in the popular Mexican destination and represents the fourth property of the brand within Mexico. The move is part of a…
- PGA Brings Golf Back to Puerto Vallarta With The Third Mexico Open at Vidanta Puerto Vallarta, Mexico - The 2024 Mexico Open at Vidanta, a highlight event in Mexico and Latin America known for its outstanding combination of social, culinary, and sports experiences, is swiftly approaching, with only 32 days remaining until the championship winner is announced. Scheduled to occur from February 22 to 25, this prestigious PGA TOUR…
- Restoration Efforts Underway for Puerto Vallarta’s Iconic Our Lady of Guadalupe Church Puerto Vallarta, Mexico - The historic Our Lady of Guadalupe Church, a landmark at the heart of Puerto Vallarta and a symbol of the region's cultural and religious heritage, is currently undergoing significant restoration efforts. The parish priest, Arturo Arana López, has announced that the restoration of the church's main dome, which began on January…