Genetic Variant Tells the Story of Skin Color Evolution

Techonology Networks | January 21, 2019

A research team at the University College London (UCL) Genetics Institute has conducted a genome-wide association study (GWAS) that provides novel insight into the evolution of variation in human skin color. The study, published in the journal Nature Communications, analyzed pigmentation in a population of more than 6,000 Latin American volunteers, who have a mix of Native American, European and African ancestry. “Features such as skin color are among the most prominently observed traits in humans and show a huge diversity, so we were interested in studying their genetic basis to see how they evolved,” explains Kaustubh Adhikari, the joint first author (UCL Genetics Institute). “There are many studies of pigmentation in Western Europeans and White Americans, but very few in other ethnicities such as Latin American.”
For each volunteer, the level of melanin in the skin was quantified using a reflectance spectrophotometer, and a high-quality photograph was taken to measure the color of the eyes. The scientists discovered a variation in the gene MFSD12 that is linked to lighter skin color. “Notably, the genetic variant that we discovered is almost exclusively present in East Asians and Native Americans but absent everywhere else,” adds Javier Mendoza-Revilla, the joint first author (UCL Genetics Institute).

Spotlight

Introducing Southern Biological Tutorial series. Step by Step Tutorial for our pGreen Bacterial transformation Biolab.

Spotlight

Introducing Southern Biological Tutorial series. Step by Step Tutorial for our pGreen Bacterial transformation Biolab.

Related News

CELL AND GENE THERAPY

Casma Therapeutics Raises $46.0 M in Series C Funding

Casma Therapeutics, Inc. | November 21, 2022

Casma Therapeutics, Inc., a biotechnology company engaging the autophagy system to provide innovative new medicines, announced the closing of a Series C financing round of $46.0 million. New investors participating in the round include Amgen Ventures, LLC, Astellas Venture Management, Eisai Co., Ltd., Euclidean Capital, Mirae Asset, and Ono Venture Investment. Current investors Eventide Asset Management, LLC, Schroders Capital, The Column Group, Third Rock Ventures, and other funds also participated in the financing. Dr. Hiromichi Kimura, Investment Director of Astellas Ventures, has joined the board of directors. Dr. Tomotaka Okino of Ono Venture Investment and Amgen Ventures have joined as board observers. Casma will use proceeds to advance its lead program for MYD88 mutant lymphoma through preclinical and into IND enabling studies. “The closing of this financing has strengthened our resources to continue advancing our drug pipeline focused on autophagy-based degradation. We are thrilled to welcome several top-tier investors who recognize the potential of our biological platforms and therapeutic assets targeting well-known high-value and traditionally undruggable targets.” Keith Dionne, Ph.D., Chief Executive Officer of Casma Therapeutics, Inc "Casma’s autophagy-based degradation platform, PHLYT™, is unique and impressive,” commented Dr. Kimura. “Along with a rich pipeline of autophagy degraders, the company has also established a highly qualified team with extensive scientific experience in drug development. We expect that this round of funding will accelerate development of Casma’s pipeline assets, especially its degrader for MYD88 mutant tumors.” About Casma Therapeutics, Inc. Casma Therapeutics, Inc. is developing novel cellular degradation approaches based on the autophagy pathway to open new target areas for drug discovery and development that will profoundly impact the lives of patients. Autophagy is a conserved cellular process that contributes to overall cellular homeostasis. The autophagy machinery targets large and complex disease targets such as organelles, protein aggregates and large signaling complexes and before directing them to the lysosome for elimination. By selectively degrading disease targets by autophagy, Casma expects to arrest or reverse the progression of disease in multiple oncology, inflammation, neurodegeneration, and metabolic disorders.

Read More

MEDTECH

Bionaut Labs Closes $43M in Series B Led by Khosla Ventures to Advance First-in-Class Micro-Robotic Technology and Remove Barriers

Bionaut Labs | November 29, 2022

Bionaut Labs, the company that uses microscale robots to revolutionize the treatment of central nervous system diseases and disorders, announced $43.2M in a Series B round of financing led by Khosla Ventures, bringing the company’s total financing raised to date to $63.2 million. Also participating in the round are new investors Deep Insight, OurCrowd, PSPRS, Sixty Degree Capital, Dolby Family Ventures, GISEV Family Ventures, What if Ventures, Tintah Grace and Gaingels, along with all existing investors - Upfront Ventures, BOLD Capital Partners, Revolution VC, and Compound. Many diseases of the brain and central nervous system are hard to treat because it is difficult to deliver therapeutics beyond the blood-brain barrier and reach deep locations in the midbrain with precision. Through magnetic propulsion, Bionauts™ can navigate the depths of the human body to deliver drugs locally, generating efficacy and avoiding side effects and toxicity from systemically delivered drugs. By reaching the midbrain safely through novel routes, Bionaut Labs aims to develop solutions to treat the most debilitating conditions including Parkinson’s disease and Huntington's disease, malignant glioma and hydrocephalus. Funds will be used to advance clinical development of the company’s lead programs against malignant glioma brain tumors and Dandy-Walker Syndrome (a rare pediatric neurological disorder). Funds will also support further development of its proprietary Bionaut™ treatment platform, allowing future expansion of clinical targets and progression through Bionaut’s two accelerated FDA designations. Bionaut Labs will release major pre-clinical data packages from IDE and IND enabling studies in 2023, with the goal of initiating human clinical trials in 2024. “There has been a dearth of innovation around treatments for conditions that cause tremendous suffering, in large part because past failures have discouraged even the best of researchers. Bionaut Labs remains committed to finding new ways to treat these devastating diseases, which are long overdue for a breakthrough.” Michael Shpigelmacher, co-founder and CEO, Bionaut Labs Bionaut Labs is co-founded by two robotics entrepreneurs, Michael Shpigelmacher and Aviad Maizels, who previously co-founded PrimeSense, the company that developed the facial recognition tech behind iPhone’s FaceID. Its leadership and medical team consists of experts across robotics, neuroscience, biology and drug development. “We are extremely excited about the transformative potential Bionaut presents in treating debilitating neurological disorders,” said Vinod Khosla, founder of Khosla Ventures. “Anatomically precise treatment will make traditionally-used methods seem archaic, and Bionaut is at the forefront of this movement.” “Bionaut Labs tackles a complex pharmaceutical problem which many companies have failed to address in the past,” said Giammaria Giuliani, director of the GISEV Family Office. “As pioneers of micro-robotics for CNS treatment, the company enjoys a strong first-mover advantage and carries great promise.” As neurodegeneration continues to grow in prevalence in the aging global population, Bionaut Labs offers unprecedented therapeutic access to the brain and other hard-to-reach locations in the body, diagnosing and treating diseases that were previously unreachable. Bionaut Labs will transform the way the biopharmaceutical industry develops treatments by offering a mechanism to engineer the therapeutic index for optimal efficacy and safety. About Bionaut Labs Bionaut Labs is a biotech company pioneering precision micro-technology with the deployment of microscale robots to remove the barriers of localized treatment and detection of diseases. Magnetic propulsion-controlled Bionauts navigate to deep locations in the human body and brain safely and precisely through non-linear 3D trajectories, making Bionaut Labs the first to access the midbrain through previously inaccessible anatomical routes. Bionauts can perform localized treatment, detection and precise medical procedures to deliver outcomes that were previously unattainable. The FDA has granted Bionaut Labs a Humanitarian Use Device designation for BNL-201, a micro-robot design to treat Dandy Walker Malformation, and an Orphan Drug Designation for BNL 101, a drug-device combination for treatment of malignant glioma.

Read More

CELL AND GENE THERAPY

Kriya Acquires Redpin Therapeutics, Adding Neurology Pipeline to Gene Therapy Portfolio

Kriya Therapeutics | November 17, 2022

Kriya Therapeutics, Inc., a fully integrated gene therapy company advancing a broad portfolio of innovative therapeutics announced the acquisition of Redpin Therapeutics, Inc., a privately held biotechnology company developing regulatable gene therapies for intractable diseases of the nervous system. The acquisition serves as the foundation for Kriya’s neurology therapeutic area portfolio, with two lead gene therapy programs focused on epilepsy and trigeminal neuralgia. Redpin’s proprietary chemogenetics platform can selectively activate or silence disease-causing neurons, while leaving normal functioning cells unaffected. Currently available treatments for neurological disorders typically rely on systemically administered drugs or surgical interventions to address local neuron dysfunction. However, these approaches can have limited efficacy and off-target side effects. In contrast, chemogenetics leverages gene products that are selectively responsive to a chosen small molecule. Redpin’s technology utilizes gene therapy to express engineered ion channels that are responsive to modulation by the FDA-approved anti-smoking drug varenicline to either inhibit specific overactive neurons or stimulate underactive ones. “Redpin’s innovative chemogenetics platform has the potential to transform the lives of patients suffering from intractable neurological conditions. We are looking forward to integrating Redpin’s platform and pipeline into Kriya’s gene therapy engine as we advance our mission to develop life-changing gene therapies that can address diseases affecting millions of patients around the world.” Shankar Ramaswamy, M.D., Co-Founder and Chief Executive Officer of Kriya “Redpin has a built a breakthrough, validated chemogenetics approach that could have significant potential in the targeted treatment of neurological disorders,” said Dr. Elma Hawkins, Redpin Therapeutics’ President, Chief Executive Officer and Co-founder. “Kriya Therapeutics is the perfect company to take this leading ion channel-based platform forward and deliver an effective treatment option for patients. We look forward to working with the Kriya team to progress these unique targeted therapies to patients in need as rapidly as possible.” Redpin’s investors include 4BIO Capital, Arkin Bio Ventures, Takeda Ventures Inc, New York Ventures and Alexandria Venture Investments. About Epilepsy Epilepsy is a brain disorder that causes recurrent spontaneous seizures. Approximately 3.4 million people in the U.S. suffer from active epilepsy, according to the U.S. Centers for Disease Control and Prevention. Current treatments for epilepsy include medication, neurostimulation and surgery to remove sections of the affected part of the brain. However between 20% to 40% of patients with newly diagnosed epilepsy will become refractory to treatment, and will continue to suffer seizures. Uncontrolled epilepsy can lead to sudden unexpected death in epilepsy (SUDEP). About Trigeminal Neuralgia Trigeminal neuralgia also known as Tic Douloureux, is a severe and chronic disorder that affects the trigeminal, or fifth cranial, nerve. TN patients experience progressive intense stabbing facial pain attacks that can become more severe and last longer over time. Approximately 10,000 to 15,000 new cases of TN occur each year in the U.S., according to the National Organization for Rare Disorders. While currently available treatments include anti-seizure medications and surgical procedures, a significant proportion of patients are refractory to these approaches. About Kriya Therapeutics Kriya is a fully integrated company pioneering novel technologies and therapeutics in gene therapy. The company aims to revolutionize how gene therapies are designed, developed, and manufactured, improving speed to market and delivering significant reductions in cost. The company is advancing a deep and diversified pipeline of innovative gene therapies in multiple therapeutic area divisions, with current pipeline programs in metabolic disorders, neurology and ophthalmology. Kriya is backed by leading life sciences and technology investors, and has core operations in Silicon Valley, California and Research Triangle Park, North Carolina. About Redpin Based in New York City, Redpin Therapeutics is a privately held, preclinical stage gene therapy company developing a proprietary chemogenetics platform for targeted cell therapies to address currently intractable diseases of the central nervous system. Using a powerful and innovative technology that inverts traditional drug development by using gene therapy to target an engineered receptor to any cell type responsible for disease and modulating its function with an already-approved drug. This has the potential to deliver effective treatments for a wide range of currently intractable neurological and psychiatric diseases and disorders. Redpin has a worldwide exclusive license from the Howard Hughes Medical Institute for the therapeutic use of this technology, and the company is working with urgency to apply it to advance important medicines for patients in desperate need of effective therapies.

Read More