Whole genome sequencing has substantially accelerated the pace of discovery of genes that cause rare diseases, but while this has brought the diagnostic odyssey of some patients to a conclusion, 50% to 80% remain undiagnosed after initial analysis. That is because, of 10,000 rare monogenic Mendelian diseases, only around half the genes that are mutated have been identified, with many pathogenic variants yet to be discovered. Rather than patient-by-patient analysis of genome sequences, researchers in the U.K. have now developed a new framework for analyzing sequence data at a cohort level. Applying this method to almost 35,000 undiagnosed rare disease patients whose genomes were sequenced as part of the U.K. 100,000 Genomes Project led to the identification of 141 new disease-gene associations.
Bipartisan PBM reforms back on the congressional table
The U.S. Congress is turning its attention, once again, to bipartisan pharmacy benefit manager (PBM) reforms, including requiring transparency, prohibiting spread pricing and delinking PBM compensation from the list price of a drug. But even if the reform bills that gained bipartisan support in the 118th Congress were introduced and passed tomorrow, it would take two to three years for them to have the desired impact, pharmacist Hugh Chancy told the House Energy and Commerce Subcommittee on Health today. That’s why Congress needs to get this done sooner than later, he added. Blaming Elon Musk for killing the reform bills in December via his social media posts, committee member Alexandria Ocasio-Cortez, D-N.Y., urged the committee to get the legislation to the House floor so it can be voted on.
Eikon tops the year’s VC rounds as it enters a phase III in cancer
With the closing of its $350.7 million series D, Eikon Therapeutics Inc. has notched two financial high marks for the still young year. The funding is the biggest venture capital round of 2025 and it’s also the first series D. The financing brings the privately held company’s fundraising efforts to more than $1.1 billion. Investors include Lux Capital, Alexandria Venture Investments, AME Cloud Ventures, The Column Group, E15 VC, Foresite Capital, General Catalyst, Soros Capital and the Stepstone Group. Eikon’s lead development candidate is EIK-1001, a co-agonist of toll-like receptors 7 and 8, which is in a phase III study for treating advanced melanoma.
Biocom 2025: The quickly evolving AI landscape
A panel at Biocom California’s 15th Annual Global Life Science Partnering & Investor Conference covered the emerging use of artificial intelligence to discover and develop drugs. Many of the panelists noted how quickly the landscape is changing, while others stressed that overhyping the technology isn’t helpful for the long-term prospects of people feeling comfortable with the AI outputs.
Harbour Biomed newco HBM Alpha pens $395M hyperplasia drug deal
HBM Alpha Therapeutics Inc. signed a potential $395 million licensing deal Feb. 26 with an unnamed “business partner” for its endocrine asset, HAT-001, adding another contender to the congenital adrenal hyperplasia (CAH) space. The deal underscores the rise of the so-called China newco model, designed to help Chinese pharma companies adapt to a changing global industry. HAT-001, also known as HBM-9013, is HBM Alpha’s preclinical corticotropin-releasing hormone antibody in development for rare genetic disorders of CAH and polycystic ovary syndrome. The new deal gives HBM Alpha’s partner exclusive development and commercialization rights of HAT-001 worldwide, excluding mainland China, Taiwan, Hong Kong and Macau. HBM Alpha was founded in 2019 as a joint venture between Harbour Biomed and Boston Children’s Hospital of Harvard Medical School.
Biocity’s SC-0062 hits phase II endpoints in diabetic kidney disease
Biocity Biopharmaceutics Co. Ltd.’s selective endothelin receptor type A antagonist, SC-0062, met the primary endpoint of reducing proteinuria in a phase II diabetic kidney disease (DKD) cohort. Conducted at 40 sites across China, the 2-Succeed phase II trial is designed to evaluate the efficacy and safety of SC-0062 in patients with chronic kidney disease with proteinuria. It is a multicenter, randomized, double-blind, placebo-controlled study with two parallel cohorts in IgA nephropathy and DKD. In DKD, SC-0062 significantly reduced proteinuria in the high-dose group (20 mg) compared to the placebo group. The effect of SC-0062 on proteinuria was both clinically meaningful and statistically significant.
BioWorld Insider Podcast: Mega money well spent? Mammoth mergers fall short of the dream
Billion-dollar M&As are commonplace now, but not too long ago they were a rarity. So many have occurred in the past few years, they’ve become the norm. But were all these multi-billion-dollar mega mergers worth the money? Karen Carey, BioWorld’s senior managing editor and chief analyst, crunched the numbers on 21 of the biggest M&As in a three-part BioWorld series and found very few have been, so far, good deals for the buyer. In this podcast, Carey sifts through the winners and losers and explains the analysis.