ASHG Show Preview: Heading to Houston for human genetics

The 2019 ASHG meeting will feature the latest research on human genetics

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American Society for Human Genetics 69th Annual Meeting
October 15-19, 2019
George R. Brown Convention Center, Houston
Heading to Houston for human genetics
The 2019 ASHG meeting will feature the latest research on human genetics
By Mel J. Yeates
HOUSTON—This year, the 69th annual meeting of the American Society of Human Genetics (ASHG) will be held in sunny Houston at the George R. Brown Convention Center, from Oct.15-19.
According to an ASHG spokesperson, “ASHG is the meeting for cross-disciplinary discussions, which inspires new ideas and collaborations. You get to learn about what’s coming down the pipeline and be at the forefront of discovery. Houston is also just an amazing city for a scientific meeting. It’s a hub for biomedical research, easily accessible from around the world and across the U.S. and has such a diversity of people, food and science that you can explore while you’re there. We really can’t wait for the science and the city.”
The exhibit and poster hall itself will be home to over 3,000 posters. With last year’s ASHG meeting attracting over 9,000 attendees and over 250 exhibiting companies, the 2019 meeting is expected to be the largest human genetics meeting and exposition worldwide.
“As ASHG is a big tent for a variety of researchers and clinicians, it’s difficult to identify one theme that will come out of this year’s meeting and predict what will be more widely attended and impactful,” notes the ASHG spokesperson. “To this end, we are excited for our Horizons Plenary Session on Saturday, which aims to summarize the meeting’s hottest science.”
Attendees can stay for the final session of the meeting, the Horizon Plenary Session (which is new to 2019), and catch up on the most exciting discoveries presented during the meeting. ASHG Program Committee speakers will share important breakthroughs and practical takeaways in what is billed as an “energetic, interactive session” to round out the meeting.
When asked about other new additions to this year’s meeting, the ASHG spokesperson mentions, “We’re really excited for ASHG’s first-ever career fair. It will take place in the exhibit and poster hall, and is a great opportunity to recruit and find attendees who are looking for their next career step. It also helps attendees identify exhibitors who are actively hiring.”
The career fair will be held on Wednesday, Oct. 16 and Friday, Oct. 18 from 1:15 p.m. to 3:15 p.m. To increase the chances of job exposure, ASHG suggests that attendees upload their resumes/CVs to the ASHG Career Center. This resource is available year-round, and will be the main location for job postings and resumes at the ASHG meeting.
Another selection new to 2019 is the Tuesday programming: three concurrent invited sessions starting at 1 p.m., including the ASHG/ESHG Building Bridges session titled “Potential Policy Implications of Genetic Research into Educational Attainment.”
ASHG has also added panel-style interactive sessions, select invited sessions which will include panel discussions, in addition to traditional didactic talks. Panelists will facilitate what is hoped to be dynamic dialogue on the latest lab practices and regulatory considerations.
Inspiration lounges, located in the exhibit and poster hall and in the grand ballroom foyer on level three of the convention center, will be expanded for 2019’s meeting. These lounges aim to create formal and informal opportunities for attendees to connect and discuss the meeting’s exciting research. Thought leaders will be scheduled each day around specific topics and sessions. The schedule for this will be available in early September.
ASHG also highlights its welcome reception, which “will encourage attendees to network with others in similar topic areas. In addition to general mingling space, there will be different sections labeled by topic area, so attendees can find people with similar interests with ease,” the ASHG spokesperson says.
The schedule include several new Focused Learning Opportunities features designed to extend scientific concepts to related applications and create opportunities to engage with Society programs. These include:
  • ASHG/National Society of Genetic Counselors: Achieving Successful Collaborations in a Research Setting
  • ASHG Communications Workshop: Going Global, Going Local
  • Perspectives on Germline Gene Editing Regulation: An ASHG Forum
  • CoLab Sessions
A new evening Diversity Reception, open to all meeting attendees, will recognize and celebrate the importance of diversity, as well as provide networking for the research and training community.
The new Solutions Hub in the exhibit and poster hall is billed as a one-stop solutions hub, full of new technology, exhibitors, posters and educational opportunities:
  • CoLab Theaters where you can listen to 30-minute technology-based talks throughout the day
  • Poster Sessions where the very latest science is presented every day.
  • Networking/Inspiration Lounges where you can talk to peers in the genetics and genomics community about what you’ve just learned in a session or burning questions in your field, and bring this valuable information back to your workplace
  • ASHG Central & Career Resources, where you can connect with ASHG and get questions answered, get career advice or browse job opportunities.
And, of course also in the exhibit hall, hundreds of exhibiting companies will show the latest technology and services, ready to collaborate and generate solutions.
“We have seen an uptick in the number of exhibiting companies that work in pharmacogenomics, and gene therapy has seen an uptick this year, which illustrates that important conversations are happening at ASHG 2019 and exhibitors want to be there,” adds the ASHG spokesperson. “Our scientific attendees also have a growing interest in these areas, and to respond to that interest, we’ve debuted a new abstract topic: Precision Medicine, Pharmacogenomics and Genetic Therapies. This topic received a lot of abstract submissions this year, and will lead to greater visibility and discussion in these areas.”
“There is a plenary talk on Saturday on a Phase 2/3 trial for a drug that would help with cerebral adrenoleukodystrophy,” the spokesperson continues. “There is also a platform session on pharmacogenomics and gene therapy, all well as the following invited sessions that may be of interest: ‘Genetics on Target: The Role of Genetic Evidence in Drug Discovery and Development, from Vision to Reality’ and ‘Clinical Spotlight: Basic Research to Clinical Implementation—A Multidisciplinary Overview of the Current State and Future Directions of Clinical Pharmacogenomic Testing.’”
The ASHG spokesperson also notes that abstract-based sessions, which form the bulk of the scientific program as plenaries, concurrent platforms and posters, are not posted until August. The August issue of DDNews went to press before this information became available, but attendees should now be able to find out more about the schedule details.
“We are continuing to work on new ways to connect attendees and allow them to network with like-minded colleagues, including industry attendees and exhibiting scientists,” the spokesperson concludes.

ASHG annual awards
The following awards will be presented at the 2019 ASHG annual meeting:
The William Allan Award is the top prize given by the American Society of Human Genetics. It was established in 1961 in memory of William Allan (1881-1943), who was one of the first American physicians to conduct extensive research in human genetics. The Allan Award is presented annually to recognize substantial and far-reaching scientific contributions to human genetics, carried out over a sustained period of scientific inquiry and productivity.
This year’s recipient is Dr. Stylianos E. Antonarakis, professor and chairman of genetic medicine emeritus at the University of Geneva Medical School.
The Curt Stern Award honors the memory of Curt Stern (1902-1981) as an outstanding pioneering human geneticist. This award is presented yearly for outstanding scientific achievements in human genetics that have occurred during the last 10 years.
Dr. Charles Rotimi and Dr. Sarah Tishkoff are the 2019 recipients of the Curt Stern Award. Rotimi is director of the Center for Research on Genomics and Global Health at the National Institutes of Health (NIH). Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the School of Medicine and the School of Arts and Sciences.
The Arno Motulsky-Barton Childs Award for Excellence in Human Genetics Education recognizes outstanding contributions to human genetics education. Nominees must have made contributions that are recognized nationally or internationally as being of exceptional quality and great importance to human genetics education.
Dr. Jeffrey N. Weitzel and Dr. Kathleen Blazer are the 2019 recipients. Weitzel is chief of the Division of Clinical Cancer Genomics and the Cancer Screening and Prevention Program at City of Hope Comprehensive Cancer Center. Blazer directs City of Hope’s Cancer Genomics Education Program.
The ASHG Advocacy Award honors individuals or groups of individuals who have exhibited excellence and achievement in promoting the science of human genetics and its application for the common good.
Rick Guidotti is the 2019 recipient of the Advocacy Award, and the founder and director of POSITIVE EXPOSURE, which utilizes the arts, film and narratives to present the humanity and dignity of individuals living with genetic, physical, behavioral and intellectual differences.
The ASHG Mentorship Award honors ASHG members who have significant records of accomplishment as mentors. The award is open to individuals at all academic ranks. Eligible candidates must have demonstrated a sustained pattern of exemplary mentorship at the graduate student, postdoctoral, residency or fellowship level.
Dr. Hal Dietz was named the recipient of the 2019 Mentorship Award.
The Early-Career Award recognizes scientists who are in the early stages of their careers as independent investigators. The candidate must not have been an independent investigator for more than 10 years and the work submitted for consideration must have been primarily the product of the candidate’s independent lab.
Dr. Stephen Montgomery has been named the recipient of the award. Montgomery is an associate professor in the departments of Genetics, Pathology and Computer Science at Stanford University School of Medicine.
The Victor A. McKusick Leadership Award was established by ASHG in honor of the late Dr. Victor A. McKusick, and is presented on behalf of the society to an individual whose professional achievements have fostered and enriched the development of various human genetics disciplines. Potential recipients should exemplify the enduring leadership and vision required to ensure that the field of human genetics will flourish and successfully assimilate into the broader context of science, medicine, and health.
Dr. Huda Zoghbi, is the 2019 recipient of this leadership award. Zoghbi is the director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, a professor of Molecular and Human Genetics at Baylor College of Medicine and an investigator with the Howard Hughes Medical Institute.

Social events and networking opportunities
Networking Reception
Wednesday, Oct. 16, 7:30-9:30 p.m.
Location: Texas Ballroom, Marriott Marquis Hotel
Enjoy an evening of mingling, relaxing and networking. Share experiences from the first day of the meeting, discuss innovations and share ideas. In addition to general conversation space, the reception will feature themed zones to connect with thought leaders and peers with similar interests, as well as engage informally with quizzes and games.
#ASHG19 Tweetup
Thursday, Oct. 17, 7:30-9:30 p.m.
Location: Grotto Downtown
Ever wonder what all of those people on Twitter or other social media look like in person? Here’s your chance to find out. Join ASHG attendees who use social media like Twitter—or anyone who wants to learn—for a happy hour and conversation next door to the Convention Center.

Exhibit and poster hall hours
Wednesday, Oct. 16
10 a.m. to 4:30 p.m.
Thursday, Oct. 17
10 a.m. to 4:30 p.m.
Friday, Oct. 18
10 a.m. to 3:30 p.m.

Meeting locations
Meeting Venue
George R. Brown Convention Center
1001 Avenida De Las Americas, Houston
(713) 853-8000
Headquarter Hotels
Hilton Americas Houston
1600 Lamar St, Houston
(713) 739-8000
Marriott Marquis Houston
1777 Walker St, Houston
(713) 654-1777

AVROBIO announces positive AVR-RD-01 data
CAMBRIDGE, Mass.—AVROBIO Inc. announced in June the first kidney biopsy result and additional positive data from two ongoing clinical trials of its AVR‑RD‑01 investigational gene therapy in Fabry disease, a rare lysosomal storage disease associated with significant morbidity and early mortality. To date eight patients have been dosed in the trials—three patients in the Phase 2 FAB-201 trial and five patients in the Phase 1 FACTs trial.
The primary efficacy endpoint for the Phase 2 FAB-201 trial is the change from baseline in the average number of Gb3 inclusions per peritubular capillary (PTC) as measured in a kidney biopsy one year post-treatment with AVR-RD-01. Gb3, or globotriaosylceramide, is a substrate (or fat) that accumulates in the cells of Fabry patients and can result in damage to multiple organs, including the kidneys and heart.
In addition to safety, the FAB-201 and Phase 1 clinical trials are examining a number of secondary efficacy and other endpoints, including biomarkers, such as measurements in the plasma of Gb3 and lyso-Gb3 (the toxic metabolite of Gb3), AGA enzyme activity levels in leukocytes and plasma, vector copy number (VCN) and indicators of kidney and cardiac function.
The kidney biopsy for the first treatment-naïve patient dosed in the FAB-201 trial showed a reduction from an average of 3.55 Gb3 inclusions per PTC at baseline to an average of 0.47 inclusions per PTC one year after administration of AVR-RD-01, representing an 87-percent reduction.
“We are excited by the magnitude of the Gb3 reduction observed in the first patient’s kidney biopsy at 12 months. This is the primary efficacy endpoint in FAB-201 and an efficacy endpoint that has previously been utilized by the FDA in evaluating and approving treatment for Fabry disease,” said Dr. Birgitte Volck, AVROBIO’s president of research and development. “Our prior data readouts have shown AVR-RD-01 is associated with reductions of Gb3 and lyso-Gb3 levels in the plasma, and today’s data further support its potential to reduce Gb3 levels in tissue, including in the kidney. We believe the 87-percent Gb3 clearance in the kidney biopsy may be considered clinically relevant since Gb3 accumulation in organs of Fabry patients is associated with significant morbidity and early mortality.”
Durability data for AVR-RD-01 continues to show sustained results across multiple parameters. All six patients across the trials for whom data are reported at six months or longer post-treatment with AVR-RD-01 show sustained AGA enzyme activity in leukocytes and plasma and exhibit consistent VCN trends, with VCN levels for the first Phase 1 patient stable at more than two years post-treatment.
Phase 1 patients who have discontinued enzyme replacement therapy (ERT) remain off ERT. The two patients in the Phase 1 trial who discontinued ERT post-AVR-RD-01 treatment remain off ERT to date. These patients have now been off ERT for 10 and nine months, respectively. A third patient is in the process of discontinuing ERT.
“I believe today’s data indicate that AVR-RD-01 is substantially reducing the build-up of Gb3 substrate in kidney tissue to potentially effective clearance levels,” noted Dr. Mark Thomas of the department of Nephrology at Royal Perth Hospital and Clinical Professor at the University of Western Australia Medical School, the lead investigator for the FAB-201 trial. “This, along with the sustained reduction in Gb3 and lyso-Gb3 in plasma observed to date, could translate into substantially improved patient outcomes over the current standard of care.”
Interim clinical data for all eight patients dosed to date in the FAB-201 and Phase 1 clinical trials appear to indicate that the company’s AVR-RD-01 investigational gene therapy has been generally well tolerated with no unexpected trends or safety events identified. No serious adverse events related to the AVR-RD-01 drug product were reported as of the safety data cut-off dates.
“With eight Fabry patients across two trials now treated with our investigational gene therapy, we are extremely pleased with the emerging data set and its support for AVR-RD-01 to potentially address the genetic basis of Fabry disease. As these clinical trials progress, we aim to position AVR‑RD‑01 as a first-line therapy,” added Geoff MacKay, AVROBIO’s president and CEO. “Looking beyond Fabry disease, we remain on track for other important anticipated milestones, including the dosing of the first patients in the Gaucher and cystinosis Phase 1/2 trials in the second half of 2019 as well as the introduction into our clinical programs of our commercial-scale plato platform.”
Enrollment in the FAB-201 clinical trial is ongoing.
Passage Bio partners with Paragon Gene Therapy
PHILADELPHIA—Passage Bio, a genetic medicines company developing AAV-delivered gene therapies for the treatment of rare monogenic central nervous system diseases, declared in July a collaboration agreement with Paragon Gene Therapy, a unit of Catalent Biologics, for the development of a dedicated manufacturing suite at their facility near Baltimore, Maryland.
“We are pleased to be able to support Passage Bio throughout their clinical and commercial milestones,” said Pete Buzy, president of Paragon Gene Therapy. “We highly value partnering with our clients to achieve successful patient treatments. Combining Passage Bio’s scientific knowledge with our world-class facilities and extensive AAV scale-up expertise perfectly aligns with our strategic goals in this time of gene therapy growth.”
The new cGMP suite will be built in accordance with global regulatory guidelines, and will be capable of supporting Passage Bio from clinical through to commercial supply. The suite is expected to be operational in the second half of 2020. It will be located in Harmans, Md., five miles from the Baltimore Washington Airport, within close proximity to Passage Bio’s corporate headquarters in Philadelphia.
Passage Bio will be using the iCELLis single-use fixed-bed bioreactor technology, a fully-integrated bioreactor system, which provides a scalable alternative for the cultivation of adherent cells and allows for a more robust and reproducible process. It is capable of meeting demand for both clinical and commercial-scale volumes.
“We understand that manufacturing is a critical part of a successful gene therapy program, and securing our own dedicated manufacturing suite through this new strategic partnership with Paragon Gene Therapy is a key facet of our business plan for Passage Bio. We look forward to the build-out of this facility soon,” said Stephen Squinto, co-founder and interim CEO at Passage Bio. “This milestone is evidence of how our team is applying its deep orphan drug development, manufacturing and commercialization know-how to ensure we are able to most efficiently advance our therapies through clinical development and subsequently to ensure they are readily available to patients upon approval.”
This manufacturing partnership follows a successful Series A financing by Passage Bio earlier in 2019 for their development portfolio of five therapeutic candidates.
Amicus Therapeutics and Catalent Biologics enter strategic partnership
CRANBURY, N.J.—Amicus Therapeutics Inc. recently entered into a strategic manufacturing agreement with Paragon Gene Therapy, a unit of Catalent Biologics, for clinical manufacturing capabilities and capacity for multiple active preclinical lysosomal disorder programs that are currently in development in collaboration with the University of Pennsylvania.
The university has transferred technology to Paragon in the past, and will collaborate with Amicus throughout the process. Amicus has also established a plasmid supply network and long-term supply agreements with industry-leading plasmid suppliers to support advancement of all current gene therapy pipeline programs.
“Amicus has a strong gene therapy pipeline focused on addressing many life-threatening conditions where there are urgent needs for treatments and cures,” said Pete Buzy, president of Paragon Gene Therapy. “Paragon has a proven track record to develop and successfully manufacture complex biotherapeutics using commercially-scalable processes. This agreement with Amicus highlights our world-class manufacturing team and our track record as a center of excellence for gene therapy, trusted by top biopharmaceutical companies.”
The collaboration includes multiple active preclinical lysosomal disorder programs. The current research and development production technologies and capabilities related to multiple active preclinical lysosomal disorder programs are being transferred to and developed at Paragon. The initial technology transfer and process development will focus on the Amicus Pompe AAV gene therapy program. Establishing an adeno-associated virus (AAV) manufacturing platform will further advance and establish manufacturing for multiple Amicus preclinical gene therapy programs, while leveraging Paragon’s established manufacturing capabilities for initial clinical supply and commercial product.
“As we continue to articulate our near- and long-term Amicus gene therapy manufacturing strategy, our collaboration with Paragon Bioservices is a significant next step in securing clinical scale-up and supply for our Pompe gene therapy, as well as our other active preclinical programs,” stated John F. Crowley, chairman and CEO of Amicus. “Advancing a robust manufacturing process and supply is critical to our success. Leveraging our internal expertise and process development in combination with Paragon’s expertise and platform capabilities we hope to expedite the process of moving our preclinical gene therapy programs into the clinic as quickly as possible.”

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