Curing rare genetic diseases with an opportunity in longevity
US-based biotech company Perlara aims to repeat its previous success and find new medicins for at least 2 more rare genetic diseases. The molecules the team is studying at Perlara have a longevity application in increasing lifespan and improving quality of life.
Supported by Barney the West-Coast Cockatoo
Funding Goal
$165,000 to research up to two rare genetic diseases in exchange for a share on the patents.
This is split in a minimum funding goal of $82,000 to research one disease and a maximum of $165,000 to research up to two diseases.
Highlights
Trusted
Y-combinator backed founder from Harvard and Princeton.
Momentum
New global infrastructure that allows research at a fraction of the cost.
Proven
Previous spectacular success in developing medicines for rare genetic diseases with Maggie's Pearl.
Opportunity
New opportunity right in time before first success is proven in clinical study.
What you are bidding for
With a total funding amount of $82,000, Ethan’s lab can research one of the rare genetic diseases. If the funding drive brings in $165,000, at least two related diseases can be researched, increasing the chance of finding cures.
With their funding amount, funders buy a share of the resulting patents. While this has probably no significant commercial value in terms of treating the diseases, the patents will protect the rights if those molecules are used in subsequent longevity research.
With this, we add a significant chance to the mission of curing thousands of children.
What you get for funding
As stated above, a patent has no commercial use in treating children with rare diseases, but there might be one in longevity. We can offer to allow funders to co-own the patent on the molecules. If there is a future commercial use of those molecules for longevity, this ownership could hold a monetizable value.
The process is as follows: Perlara will research two molecules that can be applied to at least two rare genetic diseases. There is roughly a 50% chance that each molecule is usable as a treatment. In that case, Marabou will organize the filing of a provisional patent in the US.
A patent incurs two costs. First, a lawyer must file the patent. The far more substantial cost is the fee for maintaining the patent, which can cost up to $20,000. Given our overall funding amount, the cost of maintaining the patent is only warranted IF there is already an application for longevity when the patent is granted.
Since there will be years between the filing and the acceptance, Marabou will undoubtedly file the patent but ONLY maintain it IF the application is straightforward. Otherwise, the cost will be too high. This constitutes a risk the funders have to be aware of.
Since adding owners to a patent is a costly process, the only prudent way is to put the patent into Marabou’s non-profit organization and make separate contracts with each funder about further use.
What We Can Achieve
The following video shows the progress of patient 1, Maggie Carmichael who has been treated with a molecule the Perlara team has researched. You can see that before the treatment she couldn’t even sit up and how she moves after two years. This project will make this happen.
Why rare genetic disease research?
A disease is called rare when it affects fewer than 200,000 patients, ultra-rare with fewer than 2000. While the patient-number is low for each disease, there are so many rare genetic diseases that 1 in 10 of all people have one.
The disease group that Perlara researches has mostly children as its patients because only a fraction survive their fifth birthday.
The effects are so severe that it warrants every research effort possible.
Why funding by the Marabou community?
Researching rare genetic diseases has only limited commercial value. Too low for the pharmaceutical industry to weigh in. If they are researched today, it is funded by the families of affected children who become entrepreneurs by necessity.
What the project needs is funding by a community who want to support the cause and support the mission to eradicate rare diseases. A community that places the mission to bring positive change even over return of investment. A true Marabou community.
What Perlara does
The Perlara team around Ethan Perlstein has previously found a curative treatment for a rare genetic disease through smart science of repurposing existing drugs with a novel trial-approach. Maggie’s Pearl, named after the first patient, has become a small media sensation.
Improving further on his method and using new advances in infrastructure, the company sets out to find cures for up to four more rare genetic diseases.
The molecules he is working on have shown potential applications in improving lifespan and healthspan in studies, giving this research further commercial potential.
Team
Ethan Perlstein PhD
Trailblazer in molecular biology research of rare genetic diseases. Y combinator-funded smart research with repurposed drugs and 1-over-n studies. Previous success now in phase-3 clinical trial at the world-renowned Mount Sinai Hospital in New York.
Kristin Kantautas, PhD
CDG Research Program Director, Perlara. Scientist, consultant and research director, passionate about drug discovery and development for rare diseases.
Mathuravani Thevandavakkam PhD
Drug Discovery at Perlara and Life Sciences Consultant. Passionate, versatile, and result-driven Biotech professional with a strong background in synthetic biology, rare diseases, and project management.
About Ethan Perlstein
Ethan is not just a scientist; he is a trailblazer who has dedicated his life to pushing the boundaries of molecular biology and translating groundbreaking research into tangible medical solutions. As the founder and CEO of Perlara, Ethan has embarked on an ambitious mission to revolutionize the way we understand, diagnose, and treat rare diseases.
With a Ph.D. in Molecular and Cell Biology from Harvard University, his deep understanding of cellular mechanisms and genetic pathways has paved the way for numerous scientific advancements. But Ethan’s brilliance doesn’t stop at the lab bench—he is a visionary who sees beyond conventional methods and dares to challenge the status quo.
In 2014, Ethan founded Perlara with a bold vision: to create a platform that leverages the power of model organisms to discover personalized treatments for rare diseases. Perlara’s unique approach combines state-of-the-art technology with the simplicity of model organisms like yeast, worms, and flies to unlock new therapeutic possibilities. Under Ethan’s leadership, Perlara has become a beacon of hope for countless families affected by rare genetic disorders.
Meet Maggie
Success with Maggie's Pearl
“Not a snowball’s chance in hell.” That was the verdict of what doctors told Maggie Carmichael’s parents about potential treatment for her then 3-year-old daughter. She suffers from a rare genetic disease called PMM2-CDG, which is a minor glitch in the DNA that causes a lot of suffering.
“We discovered a molecule that was never approved in the United States, but in Japan for a different purpose and an entirely different patient population.” After extensive lab-work, Ethan and Dr. Eva Morava-Kozics from the Mayo Clinic created a study-of-one with Maggie as the sole patient. The treatment was so successful that Dr. Morava-Kozicz now leads a clinical phase-3 trial at the Mount Sinai Hospital in New York.
The effects were so astounding that Maggie is now the hope for many more children suffering from rare genetic diseases.
Read the full story of Maggie and the sleuthing of Ethan here.
Finding more cures
Ethan Perlstein has identified four genes that are good candidates for finding cures. AARS1/2 and HARS1/2.
AARS1 and AARS2 are genes that code for enzymes essential for protein production in cells, and mutations in these genes can lead to rare genetic diseases. They can result in infantile-onset spastic ataxia, leading to motor dysfunction and developmental delays, as well as leukoencephalopathy with ovarian failure, causing brain abnormalities and premature ovarian failure. These conditions primarily affect children and young adults. 1 in 2500 people can be affected by it.
As a backup, there are HARS1 and HARS2 which are similar genes that also code for vital enzymes in protein production, and their mutations are linked to rare genetic disorders. They can cause rare disorders that affect fewer than 1 in 1 million people, causing hearing loss in both males and females and ovarian dysfunction and infertility in females. These diseases underscore the critical roles of these genes in normal cellular functions and how their disruptions can lead to significant health challenges for those affected.
Renegade Science - Repurposing Drugs
Discovering a new drug costs hundreds of millions and is out of reach for rare diseases. That’s why Perlara does research on over 8,500 existing compounds to find a second purpose for existing drugs. This is one of two reasons, why we can research a treatment for $82,000. Here is Ashley, the mother of a kid with AARS-2, explaining repurposing drugs:
The longevity angle
Perlara researches molecules that are directly involved in tRNA which is creating proteins. This shows very strong similiarities in longevity research which uses the same tRNA.
One of the studies that point into the same direction can be accessed here.
This study explores how specific genes impact the lifespan of a tiny worm species called Caenorhabditis elegans. Researchers found that turning off certain genes related to protein production in the cell’s powerhouses (mitochondria) can make the worms live longer. These genes are responsible for attaching amino acids to tRNA, which is crucial for making proteins. Interestingly, when they turned off similar genes in the cell’s main body (cytoplasm), the worms had shorter lifespans. This suggests that mitochondrial and cytoplasmic genes play opposite roles in how long the worms live. In summary, the study reveals that while reducing protein production in mitochondria promotes longevity, doing the same in the cytoplasm has the opposite effect.
How Perlara's Research Works
Perlara’s research director Kristin Kantautas on how the research from 8,500 compounds to treatment with a patient works.