Farewell #ASH24. It has been a real pleasure, a great source of information, and an amazing opportunity for collaborations. I’ve enjoyed sharing my experiences, and I only regret I could not share even more of the amazing hematology with everyone.

If you or someone you know or provide care for has RUNX1 Familial Platelet Disorder, please reach out to the NHGRI RUNX1 Natural History Study. #HemeSky #RUNX1 #FPD www.genome.gov/Current-NHGR...

Diversity in research is essential for research equity and equipoise. This is important for treatment AND natural history studies. At NHGRI #RUNX1 Natural History Study we strive to learn about ALL people with FPDMM. #ASH24 #HemeTwitter @ash-hematology.bsky.social

Dr. Rachael Grace of @bostonchildrens.bsky.social presents a comprehensive analysis of pedi AIHA. Half of patients will have one episode. For the it is a recurrent condition. With 70% untested, there is a need for more universal genetics to help stratify risks/treatment. #ASH24 #HemeSky

How rare is “rare”? Dr. M Mar Mañú Pereira (ERN EuroBloodNet / Vall d’Hebron) presents uRADAR data demonstrating that with transnational efforts we can better identify, study, and even treat vanishingly uncommon disorders, which may actually be more prevalent than we think #ASH24 #HemeSky

Iron deficiency is a critical issue during pregnancy. Oral repletion is inefficient with side effects. Traditional IV is intensive. Mary Morgan (Sunnybrook/ UofToronto) provides compelling data for ferric derisomaltose total dose infusion to treat pregnancy related #IDA #ASH24 #HemeSky

We think (rightly) of myeloid malignancy in IBMFS/CPS, but as Dr. Yael Kusne of @mayocliniccancer.bsky.social shows, DDX41 can be associated with lymphoid malignancies, too. Complicated by subsequent MN later in life. Great work characterizing the spectrum of DDX41 cancers. #ASH24 #HemeSky

Dr. Neha Nagpal of @bostonchildrens.bsky.social presents a synthetic eTERC that interestingly leads to longer telomeres, reduced cellular senescence, and is effective across multiple #telomere mutations. #ASH24 @teamtelomere.bsky.social

When do you pull the trigger on transplant in IBMFS/CPS? As Felicia Andresen of @bostonchildrens.bsky.social with the SDS Registry discusses, the ideal would be after the development of high risk features, when risk crosses a threshold, but before transformation #ASH24 #HemeSky

This slide by Felicia Andersen of @bostonchildrens.bsky.social is so important, specifically the little red box. ICC/WHO criteria are so important, but there are so many quirks to IBMFS/CPS monitoring. Work by registries and natural history studies is critical for defining these. #ASH24

Why do I study rare diseases? I love the patients and am fascinated by their disease. But as noted by Dr. Matteo Della Porta, rare monogenic disorders can teach us about the biology and treatment of more common, multifactorial diseases. #ASH24 @ash-hematology.bsky.social #EHA

Follow up of NHlBI Danazol for #TBD by Dr Nick Lee: Danazol remains safe and effective. Most require life-long treatment for count support, but organ dysfunction and infection (esp pulmonary) continues. Absent other risks (e.g., immune AA), clonal expansion is not seen. #ASH24 #HemeSky

Love is all around…and so are variants. Dr. Lisa McReynolds: @ncicancer.bsky.social IBMFS/CPS genes may be as prevalent as about 0.2%, with high penetrance. Some of these are associated with higher and/or earlier rates of malignant transformation. We need management guidelines #ASH24 #HemeSky

#ASH24 features cutting-edge developments for treating blood disorders, but #HamWassermanLecture by Dipty Jain critically remind us true change comes from dedication and commitment to our patients, and even simple interventions can be life-changing for thousands, if not millions.

DBA may be one of the most polygenic disorders (don’t quote me), but a defining feature is which ribosomal subunit is affected. Plethora of data defining the importance of the specific subunit to HSPCs in DBA by Yuefeng Tang of @northwellhealth.bsky.social #ASH24 #HemeSky

Gene therapy will come to DBA, but given its complex genetics, that time is still far off. However, work using alternative non-chemotherapeutic conditioning such as that by Leah Swartzrock of @stanfordmedicine.bsky.social is making the current cure, HCT, safer for patients. #ASH24 #HemeSky

Almost daily there is a new heritable BMF gene. ERCC6L2 is one of these new kids on the block. Sometimes it takes a bit to stress a stem cell, but when you do it right as Roman Schimmer has, TP53 (yes, that gene again) pops out as a (maladaptive) compensatory pathway. #ASH24 #HemeSky

It’s hard to believe that #ASH24 hasn’t technically started yet! Looking forward to more great work today.

Correlating specific variants with risk is the holy grail of IMBFS/CPS research, but findings can be so fleeting. We will succeed only with determination, careful subsetting, and examining large cohorts as occurs through collaboration as shown by Lili Kotmayer of St. Jude. #ASH2024 #HemeSky

Shameless shoutout to the #RUNX1 Natural History Program of NHGRI as presented by Erica Bresciani. It’s my absolute pleasure to be a part of the program bringing together amazing patients and collaborators to study #RUNX1FPD #ASH24

Speaking of variant detection: an elegant talk by Sara Torres-Esquius (Vall d’Hebron) showing that up to a *third of patients* (!) have P/LP germline variants, with the presence of symptoms/signs having a high PPV for finding something. #TestingMatters #ASH24 #HemeSky

A common concern for BMF, leukemia and HCT: how do we identify/classify variants especially dreaded VUS. This can drive surveillance, treatment, donor selection and other issues (e.g.: family planning). Only multidisciplinary approaches will get these much needed answers. #ASH24 #HemeSky

The Scientific Workshop on Germline Predisposition to Hematopoietic Malignancies and Bone Marrow Failure is always must-see cutting edge science in understanding the interface of marrow disease and malignancy #ASH24 #HemeSky #BMFS

Excited to be back in San Diego for #ASH24 Looking forward to science, discovery and innovation, but more importantly looking forward to reconnecting with so many friends, colleagues and future acquaintances. #Heme #Science #SanDiego #HemeSky

If you haven't gotten your Tdap (tetanus/diphtheria/pertussis) in the last 10 years, get updated! Pertussis can be deadly for infants but even in adults, it can lead to months of poor sleep from coughing and even broken ribs from the intensity of the cough. Protect yourself and others!

Bluesky, that other place, smoke signals…one constant remains: @shematologist.bsky.social preaching the good word of iron!

RPS19 and RPL5, the most commonly mutated genes in Diamond Blackfan anemia, impact DNA double-strand break repair https://www.biorxiv.org/content/10.1101/2024.10.10.617668v1

So let’s take a look around and see who’s here…