HONG KONG, Jan. 25, 2024 /PRNewswire/ — Kosta Lešević, a three-year-old from Belgrade, Serbia, whose journey from symptoms to diagnosis provides valuable insights into the application of precision medicine in identifying and managing rare genetic disorders. His story also reminds us about the mission of precision medicine – to help patients and their family such as Kosta’s parents, especially his mother Nevena, whose unwavering commitment is an inspiration to all.
Kosta, at 17 months old, experienced a serious developmental regression following a COVID-19 infection. He was diagnosed with cerebellar atrophy, a condition where the cerebellum (a part of the brain) degenerates and shrinks. The exact cause of this condition was initially unclear to his doctors.
A breakthrough came with BGI Genomics Clinical Whole Exome Sequencing (cWES) test conducted at the Ginekalix laboratory in Skopje, Macedonia. cWES is a type of genetic test that sequences, or reads, the exons or coding regions of the genes in a person’s genome. These regions are responsible for producing proteins and are often where genetic disorders are found. Kosta was identified with autosomal recessive spinocerebellar ataxia-2 (ARCA2), caused by a PMPCA gene mutation. This rare condition led to symptoms like cerebellar atrophy, epilepsy, and developmental delay.
“When Kosta’s parents came to us, they already had genetic test results showing no trace of variant of uncertain significance (VUS) mutations or genetic changes whose impact on health is not clearly understood. I proposed a cWES trio test covering Kosta and his parents, which revealed two mutations that both parents are carriers for, giving us a clearer picture of Kosta’s condition”, says Andrea Maneska, Molecular Biologist and Physiologist at Ginekalix.
Following a thorough analysis of test results, the Ginekalix team referred him to a prestigious clinic based in Rochester, United States, for treatment. This U.S. clinic conducted whole genome sequencing, confirming cWES test validity and accuracy. Supported by these results, Kosta was enrolled in a clinical study. His journey continues under the care of a distinguished geneticist specializing in pediatric cases, underscoring the significance of Kosta’s case for the medical community.
Kosta had shown signs of improvement. He was able to sit for longer periods and raise his head independently. Although seizures persisted, their frequency had reduced to 5-6 occurrences per day. Currently, Kosta and his family remain in the U.S., seeking therapies that could further improve his condition. Individuals may contribute to Kosta’s ongoing treatment through this link.
Kosta’s experience underscores the importance of cWES in understanding complex genetic conditions, which can help medical professionals propose personalized therapies.
Introducing BGI Genomics XOME cWES
cWES is intended for use in conjunction with the clinical presentation and other markers of disease progression for the management of patients with rare genetic disorders and especially heterogeneous phenotypes. cWES sequences over 180,000 exons across 22,000 genes for more than 4,000 monogenic diseases.
Note: This content has been made available by BGI Genomics for informational and educational purposes only. It is not intended to be a substitute for professional medical advice, diagnosis, or treatment.
GINEKALIX DOOEL is a company that was founded in Skopje, Macedonia. It specializes in the field of IVF medical equipment, drugs and medical devices, genetic testing, stem cell banking, interventional radiology, gynecology and obstetrics.
About BGI Genomics
BGI Genomics, headquartered in Shenzhen China, is the world’s leading integrated solutions provider of precision medicine. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.
Shanghai’s Lujiazui adds 5 global asset management institutions
SHANGHAI, March 5, 2024 /PRNewswire/ — Five global asset management institutions, including Aspect Capital and Schroders Capital, have signed agreements to settle in Shanghai’s Lujiazui Financial City, said local authorities.
According to Xiao Jian, head of Lujiazui administration bureau under the China (Shanghai) Pilot Free Trade Zone, Lujiazui Financial City has so far attracted more than 8,000 financial institutions.
Lujiazui has become an important cluster for global asset management institutions in China. It now boasts about 80 percent of foreign-funded asset management institutions, 40 percent of foreign-funded corporate banks, nearly one-third of public fund management companies, and nearly one quarter of insurance asset management institutions of the total in the country, Xiao said.
More than 80 world-renowned financial institutions from 13 countries have established over 120 foreign asset management institutions in Lujiazui.
“Lujiazui is an important gathering place and business expansion place for global asset management institutions in China. We are very honored to have the opportunity to join the Global Asset Management Partner Program. We also hope that through this signing, we can contribute to building Lujiazui into the core area of a global asset management center and accelerating Shanghai’s entry into the forefront of global asset management center cities,” Li You, Chief Compliance Officer of Aspect Capital (China) Limited.
“Shanghai has made a great stride in pushing for financial openness and attracting more global financial institutions and investors. The next step could be to take advantage the special status of Shanghai Free Trade Zone and Lingang special area to develop an off-shore financial system, adopting the most advanced financial business models and regulatory regimes,” said Yan Hong, professor of finance of Shanghai Advanced Institute of Finance, Shanghai Jiao Tong University.
LAMPRO International Distributor Summit: A Feast of Gathering and Future Prospect
-Focus On Pro, Pro For Mate–
HUIZHOU, China, March 5, 2024 /PRNewswire/ — On March 2-3, right on the 20th anniversary of the establishment of LAMPRO, the International Distributor Summit was successfully concluded in Huizhou. With the theme of “Focus On Pro, Pro For Mate”, the summit attracted more than 200 partners from all over the world, sharing the industry trend and advanced leading technology. During the summit, LAMPRO held an appreciation award ceremony and signing ceremony as well for partners to co-build a partnership system and create a brighter future together.
At the summit, Sichuan opera performances, band shows, and other entertainment sessions created a warm and comfortable homey vibe, so that every guest fully enjoyed the process. One of our partners even took the initiative to sing on stage.
To share business opportunities with partners and demonstrate the vision of prosperous development, LAMPRO has elaborately planned the “Tree of Dreams” launching ceremony and the 20th-anniversary sand painting video. In the beginning, Chairman Tiger Lin thanked all partners for choosing Unilumin and LAMPRO, and he emphasized, “It is vital to choose the right brand and bind with it, which will help you become an outstanding leader locally.” Afterwards, Mr. Lawrence Liu, General Manager of LAMPRO, shared the development strategy of LAMPRO partner system. The project director introduced and demonstrated LMini and other major product series in details, which greatly boosted the confidence of global partners.
Furthermore, to thank partners for their support and seek mutual development, LAMPRO also held an awarding session, a signing ceremony, and a visiting journey to the Daya Bay intelligent manufacturing base on March 3, which demonstrated the industry-leading intelligent manufacturing capabilities of LAMPRO and high quality of products. LAMPRO sincerely expects to establish a closer cooperative relationship with global partners. Partners said that they gained valuable friendship and cooperation opportunities at the summit, and highly recognized the manufacturing strength and product capability of LAMPRO.
Meanwhile, elaborately arranged lucky draws pushed the atmosphere to a culmination, in which prizes included electronic equipment of well-known brands. At the end of the dinner party, LAMPRO prepared unique souvenirs, including the 20th-anniversary mascot of LAMPRO, hoping to leave an unforgettable impression on every guest.
Looking ahead, we expect to share greater joys of success with more partners in subsequent distributor summits, create a bright future and display a better world together.
Aptoide launches campaign for a truly open digital market with new DMA website
LISBON, Portugal, March 5, 2024 /PRNewswire/ — Aptoide, the pioneer in global alternative Android app distribution, has launched a new campaign website, Leveling the game, including an Open Letter from the Aptoide founders, to demand full compliance from gatekeepers with the EU’s Digital Markets Act (DMA) and to urge regulators to take further action against anti-competitive practices by digital gatekeepers. Since 2011, Aptoide has been a vocal advocate for fair competition in the mobile app market, consistently challenging the market dominance of tech giants like Google.
With the March 2024 deadline for complete DMA compliance from gatekeepers set for this week, Aptoide sees this as a critical juncture for achieving true fairness in digital markets. However, the company also points out that significant obstacles remain, particularly with Apple’s recent DMA-related proposals, which include the introduction of a Core Technology Fee (CTF) and restrictive terms that limit developers’ access to alternative platforms.
“Aptoide has always advocated for a digital marketplace where innovation thrives and fairness reigns”, said Paulo Trezentos, Aptoide’s CEO and co-founder. “The DMA is a landmark step in that direction, but it’s clear that some tech gatekeepers are reluctant to let go of their stranglehold on the mobile industry. We must continue to push for reforms that will truly level the playing field”.
Aptoide argues that Apple’s proposed changes mostly serve to preserve its market dominance rather than to foster genuine competition, maintaining control by imposing disproportionate fees on alternative app stores and discouraging users from exploring non-Apple ecosystems through complex installation processes and misleading warnings.
Álvaro Pinto, co-founder and COO of Aptoide, added, “We’re at a crucial moment where the actions of regulators will determine the future of digital markets. Apple’s half-hearted reforms under the DMA are simply not enough. We need to ensure that the spirit of the DMA is not lost in loopholes and half-measures”.
In response to these challenges, Aptoide calls on EU authorities to hold Apple accountable and to demand that they:
- Eliminate or significantly reduce the CTF to reflect actual costs.
- Offer developers the freedom to choose between distribution models without restrictions.
- Simplify the app installation process for a better user experience.
- Apply the CTF fairly across all market participants.
- Remove misleading warnings about alternative payment systems.
- Ensure the confidentiality of data from competing marketplaces.
Aptoide believes that real competition can only emerge if the EU takes decisive action to enforce open market principles, leading to a digital marketplace that values fairness and innovation. And that the fight for an open digital marketplace is far from over and requires a united front. That’s why the company urges developers, consumers and regulators to join in demanding more from both Apple and Google.
Aptoide invites all stakeholders to visit their new DMA advocacy landing page, Leveling the game, to learn more about the ongoing struggle for an open digital world and to join the movement against the outdated monopolistic tactics of dominant gatekeepers.
Read the Aptoide Founders’ Open Letter about the DMA and what we need for real digital freedom here:
Aptoide is a game-changing app distribution and payment processing platform, with over 430 million users, 10 billion downloads and 1 million apps. Available on multiple channels including Android, Web, TV and automotive, Aptoide offers developers a trusted, experienced partnership with a deep understanding of all ecosystems.
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- LAMPRO International Distributor Summit: A Feast of Gathering and Future Prospect
- Aptoide launches campaign for a truly open digital market with new DMA website
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