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Moment of Connection – Pager Publications, Inc.

Posted: Published on August 23rd, 2017

Law, medicine, and dentistry these were the careers that I was constantly exposed to at home. With my father as a practicing lawyer for over 25 years, two of my siblings already qualified as doctors, and the third on course to completing his medical journey, most of my relatives and friends thought medicine or law would be my choice naturally. Yes, carefully deciding on and pursuing ones own profession (which would hopefully turn into ones passion) seems like a common chapter in every adults life. It is uncommon, however, and frankly worrying, for an adult to experience this chapter as soon as he has entered university in his freshman year. During the spring quarter of my freshman year (at the University of Washington), I intended to apply for bioengineering. It was set in my mind. I wanted to pursue something different from my father and siblings, something unique. If everything went according to plan, I would graduate with a bioengineering degree. Or so I thought. A few weeks before my summer break, I had received news that my father suffered from stage-five kidney failure and needed to undergo a kidney transplant. Unfortunately, that meant finding a donor as well. Seeing … Continue reading →

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Krystal files for IPO to move gene therapies into clinic | FierceBiotech – FierceBiotech

Posted: Published on August 23rd, 2017

Krystal Biotech has filed to raise about $35 million in a Nasdaq IPO. The money will equip Krystals ex-Intrexon executive team to file an IND for its rare skin disease gene therapy in the first quarter of next year. That gene therapy, KB103, is designed to treat dystrophic epidermolysis bullosa, a rare disease that makes the skin fragile and susceptible to blisters and tears. Krystal thinks it can improve outcomes in these patients, who currently only have palliative options, by using a HSV-1-based vector to fix defects in the COL7A1 gene. Pittsburgh, Pennsylvania-based Krystal has yet to back up the idea with clinical data. But having run preclinical tests of topical and intradermal formulations of KB103 and met with the FDA late last year, it plans to embark on a whistle-stop development program. The plan is to file an IND in the first quarter, have results by the middle of the year and use that readout to guide the design of a pivotal trial. Krystal will need more than the forecast IPO haul to execute that strategy, although it does expect to have some money left over from the Nasdaq listing to fund work on its follow-up program, KB104. That … Continue reading →

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Apic Bio Launches to Advance First-in-Class Gene Therapy for … – Business Wire (press release)

Posted: Published on August 23rd, 2017

CAMBRIDGE, Mass.--(BUSINESS WIRE)--Apic Bio, Inc., a pre-clinical stage gene therapy company leveraging its proprietary platform to advance therapies to treat rare diseases with complex mechanisms, in particular Alpha-1 Antitrypsin Deficiency (Alpha 1), launched today with an initial investment led by the venture philanthropy arm of the Alpha-1 Foundation and a private investor with the disease. Its lead product, APB-101, targets the liver via an AAV delivered Dual Function Vector (df-AAV) whereby the Z-AAT protein is silenced and M-AAT protein is augmented. APB-101 has achieved a pre-clinical proof of concept with efficacy demonstrated in vitro and in vivo. It is currently undergoing pre-clinical GLP toxicology studies in non-human primates. Patients living with Alpha 1 lack sufficient levels of circulating AAT protein to protect lung tissue against damage from proteases, and experience the accumulation of mutant AAT polymers in the liver. Clinically, the deficiency is manifested by progressive emphysema and the accumulation presents a significant risk of liver cirrhosis. John Reilly, Co-Founder & President said: We are grateful to TAP and A1AT Investors, LLC who have supported the successful start of Apic Bio by providing the first tranche of our seed financing round allowing us to secure key intellectual property rights and … Continue reading →

Posted in Gene Therapy | Comments Off on Apic Bio Launches to Advance First-in-Class Gene Therapy for … – Business Wire (press release)

Using Genetics to Uncover Human History – JD Supra (press release)

Posted: Published on August 23rd, 2017

Human history is often something modern man only sees as through a glass, darkly. This is particularly the case when that history did not occur in the Mediterranean, the Nile Valley, India, or China, or when there is no written record on which scholars can rely. Exacerbating the disrupting effects of time on history can be when that history occurs in a region where extensive migration has disrupted whatever temporarily stable civilization happened to have taken root at that place at any particular time. But humans leave traces of themselves in their history and a variety of such traces have been the source of reconstructions outside conventional sources. Luigi Cavalli-Sforza began the study of human population genetics as a way to understand this history in 1971 in The Genetics of Human Populations, and later extended these studies to include language and how it influences gene flow between human populations. More recent efforts to use genetics to reconstruct history include Deep Ancestry: The Landmark DNA Quest to Decipher Our Distant Past by Spencer Wells (National Geographic: 2006), and The Seven Daughters of Eve: The Science that Reveals our Genetic Ancestry by Brian Sykes (Carrol & Graf: 2002). And even more recently, … Continue reading →

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How Jewish activism has wiped out Tay-Sachs – The Times of Israel

Posted: Published on August 23rd, 2017

JTA Parents of children born with Tay-Sachs disease talk about three deaths. There is the moment when parents first learn that their child has been diagnosed with the fatal disease. Then there is the moment when the childs condition has deteriorated so badly blind, paralyzed, non-responsive that he or she has to be hospitalized. Then theres the moment, usually by age 5, when the child finally dies. There used to be an entire hospital unit 16 or 17 beds at Kingsbook Jewish Medical Center in Brooklyn devoted to taking care of these children. It was often full, with a waiting list that admitted new patients only when someone elses child had died. But by the late 1990s that unit was totally empty, and it eventually shut down. Its closure was a visible symbol of one of the most dramatic Jewish success stories of the past 50 years: the near-eradication of a deadly genetic disease. Since the 70s, the incidence of Tay-Sachs has fallen by more than 90 percent among Jews, thanks to a combination of scientific advances and volunteer community activism that brought screening for the disease into synagogues, Jewish community centers and, eventually, routine medical care. Until 1969, when … Continue reading →

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Brain Health: The Promise of Science & Social Change – HuffPost

Posted: Published on August 23rd, 2017

The brain is an organ, just like any other. This is one of principles that guides our work at the Flawless Foundation, and we believe its essential that the medical community, political leaders, and the broader public come to embrace this view of the brain as well. For too long, weve understood, talked about, and treated the brain as separate from the rest of the body, and as a result, the health of this organ -- brain health -- has been overlooked or neglected. Furthermore, those with brain health disorders havent benefitted from the same level of care and concern, either from a medical standpoint or culturally. All of this needs to change, and it begins with seeing the brain for exactly what it is. The science is already here. Every day, neuroscience is revealing more and more about the nuances of this vital organ and about how to care for its health. Historically weve intervened with treatment far too late -- as the advocacy organization Mental Health America says, at stage four. Now, thanks to medical and technological breakthroughs, we have the potential for improved practices in prevention and early diagnosis. We now have the ability to screen for … Continue reading →

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Tie-up could benefit brain-injury patients – The Straits Times

Posted: Published on August 23rd, 2017

In the future, patients with neurological conditions such as brain injuries and Parkinson's disease could get faster diagnoses and more precise treatment, due to a collaboration between the National Neuroscience Institute (NNI) and Nanyang Technological University (NTU). The tie-up will see medical practitioners and engineers working together through annual fellowships and student attachment programmes over the next three years. One such project aims to speed up the time taken by radiologists to interpret computed tomography (CT) scans, which could result in faster treatment. It will explore the use of artificial intelligence to identify different types of traumatic brain injuries. An average of 2,000 CT scans are performed at the NNI's Tan Tock Seng Hospital campus every month, not all for brain injuries. Every week, between 20 and 30 patients with traumatic brain injuries are admitted to NNI. The collaboration is key to plugging gaps in real-life applications of both disciplines, said Professor Chen Tsuhan, NTU's dean of the College of Engineering. "A lot of time is spent in the lab working with algorithms or engineering solutions without knowing much about the (clinical) data," he said. "So it is very important for our engineering faculty and students to know the kind … Continue reading →

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Athletes Help Company Using Video Games For Concussion Management – SportTechie

Posted: Published on August 23rd, 2017

Hayley Wickenheiser once won multiple medals in Olympic and world championship competition for the Canadian national hockey team. Recently, she joined another high-profile team: the professional advisory board of Highmark Interactive, a medical technology company seeking to change how athletes manage concussions and other brain injuries. Wickenheiser is one of three former athletes to form the team that will advise Highmark Interactive as it develops a video game that will revolutionize patient management, according to a press release. The others joining the board are Olympic medal-winning snowboarder Mark McMorris and former NHL player Bryce Salvador. The three athletes will be joined also by Andy OBrien, the director of sport science and performance for the Pittsburgh Penguins. Highmark Interactive claims that over one million Canadians live with a brain injury, but management and treatment options are not widely known are available a silent epidemic. Major athletes are looking to the private sector for help in the fight against concussions, Wickenheiser said in a statement. Its great to be a part of such a collaborative team of athletes, doctors and tech innovators who care deeply about supporting the research and treatment of traumatic brain injuries. Get The Latest Sports Tech News In … Continue reading →

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Research Points To Genetic Link To Cerebral Palsy – Disability Scoop

Posted: Published on August 23rd, 2017

A new study finds a stronger genetic link to cerebral palsy than previously thought prompting researchers to recommend genetic testing for those with the most common form of the condition. More than 20 percent of kids with hemiplegic cerebral palsy have rare copy-number variations or structural alterations to their DNA affecting genes instrumental in brain development, according to findings published this month in the journal Genetics in Medicine. In about 5 percent of such children, researchers said the copy-number variation was likely the cause of their cerebral palsy. Advertisement - Continue Reading Below The findings come from a DNA analysis of 97 kids with hemiplegic cerebral palsy which affects just one side of the body and their parents. Results were compared to those from more than 10,000 people without the developmental disability. The genetic variations were far more prevalent in children with hemiplegic cerebral palsy the most common form of the condition than in the control group, the study indicated. We are getting closer to understanding the complex biology of CP and the potential brain development genes that impact a childs risk of developing it, said Darcy Fehlings, a senior clinician scientist at Holland Bloorview Kids Rehabilitation Hospital in Toronto … Continue reading →

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Back-to-School Tips for Students Who Have CP, Other Disabilities – Cerebral Palsy News Today

Posted: Published on August 23rd, 2017

The alarm clock sounds, waking you from your peaceful sleep. You wonder why the alarm went off so early. Then you realize this is the day to return to school after a summer that seemed to go by exceptionally fast. You hear a knock at the door and a parent comes into your room to help you get dressed. Your thoughts race about the normal back-to-school things, but you also wonder if your peers will accept you this year and how your teachers will react. This is a typical first day of school for a student who has a disability. I was that student, the only one who had a significant disability in school. Although not all of my school experiences were bad, there are some things I wish I knew then that I know now. School is a temporary, but necessary, journey for someone who has a disability. The better educated you are, the easier time youll have as an adult. So, no matter what happens in school, try your absolute best to earn great grades and learn. Not all teachers will welcome you with open arms into their classroom. Hopefully, nowadays, more teachers are open to and educated … Continue reading →

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